Category Archives: Transhuman News

Grouping of humans based on shared physical or social qualities into categories

A race is a grouping of humans based on shared physical or social qualities into categories generally viewed as distinct within a given society.[1] The term was first used to refer to speakers of a common language and then to denote national affiliations. By the 17th century the term began to refer to physical (phenotypical) traits. Modern science regards race as a social construct, an identity which is assigned based on rules made by society.[2] While partially based on physical similarities within groups, race does not have an inherent physical or biological meaning.[1][3][4]

Social conceptions and groupings of races have varied over time, often involving folk taxonomies that define essential types of individuals based on perceived traits.[5] Today, scientists consider such biological essentialism obsolete, and generally discourage racial explanations for collective differentiation in both physical and behavioral traits.[7][8][9][10][11]

Even though there is a broad scientific agreement that essentialist and typological conceptions of race are untenable,[12][13][14][15][16][17] scientists around the world continue to conceptualize race in widely differing ways.[18] While some researchers continue to use the concept of race to make distinctions among fuzzy sets of traits or observable differences in behavior, others in the scientific community suggest that the idea of race is inherently naive[7] or simplistic.[19] Still others argue that, among humans, race has no taxonomic significance because all living humans belong to the same subspecies, Homo sapiens sapiens.[20][21]

Since the second half of the 20th century, the association of race with the discredited theories of scientific racism has contributed to race becoming increasingly seen as a largely pseudoscientific system of classification. Although still used in general contexts, race has often been replaced by less ambiguous and loaded terms: populations, people(s), ethnic groups, or communities, depending on context.[22][23]

Modern scholarship views racial categories as socially constructed, that is, race is not intrinsic to human beings but rather an identity created, often by socially dominant groups, to establish meaning in a social context. Different cultures define different racial groups, often focused on the largest groups of social relevance, and these definitions can change over time.

The establishment of racial boundaries often involves the subjugation of groups defined as racially inferior, as in the one-drop rule used in the 19th-century United States to exclude those with any amount of African ancestry from the dominant racial grouping, defined as "white".[1] Such racial identities reflect the cultural attitudes of imperial powers dominant during the age of European colonial expansion.[3] This view rejects the notion that race is biologically defined.[26][27][28][29]

According to geneticist David Reich, "while race may be a social construct, differences in genetic ancestry that happen to correlate to many of today's racial constructs are real."[30] In response to Reich, a group of 67 scientists from a broad range of disciplines wrote that his concept of race was "flawed" as "the meaning and significance of the groups is produced through social interventions".[31]

Although commonalities in physical traits such as facial features, skin color, and hair texture comprise part of the race concept, this linkage is a social distinction rather than an inherently biological one.[1] Other dimensions of racial groupings include shared history, traditions, and language. For instance, African-American English is a language spoken by many African Americans, especially in areas of the United States where racial segregation exists. Furthermore, people often self-identify as members of a race for political reasons.[1]

When people define and talk about a particular conception of race, they create a social reality through which social categorization is achieved.[32] In this sense, races are said to be social constructs.[33] These constructs develop within various legal, economic, and sociopolitical contexts, and may be the effect, rather than the cause, of major social situations.[clarify][34] While race is understood to be a social construct by many, most scholars agree that race has real material effects in the lives of people through institutionalized practices of preference and discrimination.

Socioeconomic factors, in combination with early but enduring views of race, have led to considerable suffering within disadvantaged racial groups.[35] Racial discrimination often coincides with racist mindsets, whereby the individuals and ideologies of one group come to perceive the members of an outgroup as both racially defined and morally inferior.[36] As a result, racial groups possessing relatively little power often find themselves excluded or oppressed, while hegemonic individuals and institutions are charged with holding racist attitudes.[37] Racism has led to many instances of tragedy, including slavery and genocide.[38]

In some countries, law enforcement uses race to profile suspects. This use of racial categories is frequently criticized for perpetuating an outmoded understanding of human biological variation, and promoting stereotypes. Because in some societies racial groupings correspond closely with patterns of social stratification, for social scientists studying social inequality, race can be a significant variable. As sociological factors, racial categories may in part reflect subjective attributions, self-identities, and social institutions.[39][40]

Scholars continue to debate the degrees to which racial categories are biologically warranted and socially constructed.[41] For example, in 2008, John Hartigan, Jr. argued for a view of race that focused primarily on culture, but which does not ignore the potential relevance of biology or genetics.[42] Accordingly, the racial paradigms employed in different disciplines vary in their emphasis on biological reduction as contrasted with societal construction.

In the social sciences, theoretical frameworks such as racial formation theory and critical race theory investigate implications of race as social construction by exploring how the images, ideas and assumptions of race are expressed in everyday life. A large body of scholarship has traced the relationships between the historical, social production of race in legal and criminal language, and their effects on the policing and disproportionate incarceration of certain groups.

Groups of humans have always identified themselves as distinct from neighboring groups, but such differences have not always been understood to be natural, immutable and global. These features are the distinguishing features of how the concept of race is used today. In this way the idea of race as we understand it today came about during the historical process of exploration and conquest which brought Europeans into contact with groups from different continents, and of the ideology of classification and typology found in the natural sciences.[43] The term race was often used in a general biological taxonomic sense,[22] starting from the 19th century, to denote genetically differentiated human populations defined by phenotype.[44][45]

The modern concept of race emerged as a product of the colonial enterprises of European powers from the 16th to 18th centuries which identified race in terms of skin color and physical differences. This way of classification would have been confusing for people in the ancient world since they did not categorize each other in such a fashion.[46] In particular, the epistemological moment where the modern concept of race was invented and rationalized lies somewhere between 1730 and 1790.[47]

According to Smedley and Marks the European concept of "race", along with many of the ideas now associated with the term, arose at the time of the scientific revolution, which introduced and privileged the study of natural kinds, and the age of European imperialism and colonization which established political relations between Europeans and peoples with distinct cultural and political traditions.[43][48] As Europeans encountered people from different parts of the world, they speculated about the physical, social, and cultural differences among various human groups. The rise of the Atlantic slave trade, which gradually displaced an earlier trade in slaves from throughout the world, created a further incentive to categorize human groups in order to justify the subordination of African slaves.[49]

Drawing on sources from classical antiquity and upon their own internal interactions for example, the hostility between the English and Irish powerfully influenced early European thinking about the differences between people[50] Europeans began to sort themselves and others into groups based on physical appearance, and to attribute to individuals belonging to these groups behaviors and capacities which were claimed to be deeply ingrained. A set of folk beliefs took hold that linked inherited physical differences between groups to inherited intellectual, behavioral, and moral qualities.[51] Similar ideas can be found in other cultures,[52] for example in China, where a concept often translated as "race" was associated with supposed common descent from the Yellow Emperor, and used to stress the unity of ethnic groups in China. Brutal conflicts between ethnic groups have existed throughout history and across the world.[53]

The first post-Graeco-Roman published classification of humans into distinct races seems to be Franois Bernier's Nouvelle division de la terre par les diffrents espces ou races qui l'habitent ("New division of Earth by the different species or races which inhabit it"), published in 1684.[54] In the 18th century the differences among human groups became a focus of scientific investigation. But the scientific classification of phenotypic variation was frequently coupled with racist ideas about innate predispositions of different groups, always attributing the most desirable features to the White, European race and arranging the other races along a continuum of progressively undesirable attributes. The 1735 classification of Carl Linnaeus, inventor of zoological taxonomy, divided the human species Homo sapiens into continental varieties of europaeus, asiaticus, americanus, and afer, each associated with a different humour: sanguine, melancholic, choleric, and phlegmatic, respectively.[55] Homo sapiens europaeus was described as active, acute, and adventurous, whereas Homo sapiens afer was said to be crafty, lazy, and careless.[57]

The 1775 treatise "The Natural Varieties of Mankind", by Johann Friedrich Blumenbach proposed five major divisions: the Caucasoid race, the Mongoloid race, the Ethiopian race (later termed Negroid), the American Indian race, and the Malayan race, but he did not propose any hierarchy among the races.[57] Blumenbach also noted the graded transition in appearances from one group to adjacent groups and suggested that "one variety of mankind does so sensibly pass into the other, that you cannot mark out the limits between them".[58]

From the 17th through 19th centuries, the merging of folk beliefs about group differences with scientific explanations of those differences produced what Smedley has called an "ideology of race".[48] According to this ideology, races are primordial, natural, enduring and distinct. It was further argued that some groups may be the result of mixture between formerly distinct populations, but that careful study could distinguish the ancestral races that had combined to produce admixed groups.[53] Subsequent influential classifications by Georges Buffon, Petrus Camper and Christoph Meiners all classified "Negros" as inferior to Europeans.[57] In the United States the racial theories of Thomas Jefferson were influential. He saw Africans as inferior to Whites especially in regards to their intellect, and imbued with unnatural sexual appetites, but described Native Americans as equals to whites.[59]

In the last two decades of the 18th century, the theory of polygenism, the belief that different races had evolved separately in each continent and shared no common ancestor,[60] was advocated in England by historian Edward Long and anatomist Charles White, in Germany by ethnographers Christoph Meiners and Georg Forster, and in France by Julien-Joseph Virey. In the US, Samuel George Morton, Josiah Nott and Louis Agassiz promoted this theory in the mid-19th century. Polygenism was popular and most widespread in the 19th century, culminating in the founding of the Anthropological Society of London (1863), which, during the period of the American Civil War, broke away from the Ethnological Society of London and its monogenic stance, their underlined difference lying, relevantly, in the so-called "Negro question": a substantial racist view by the former,[61] and a more liberal view on race by the latter.[62]

Today, all humans are classified as belonging to the species Homo sapiens. However, this is not the first species of homininae: the first species of genus Homo, Homo habilis, evolved in East Africa at least 2 million years ago, and members of this species populated different parts of Africa in a relatively short time. Homo erectus evolved more than 1.8 million years ago, and by 1.5 million years ago had spread throughout Europe and Asia. Virtually all physical anthropologists agree that Archaic Homo sapiens (A group including the possible species H. heidelbergensis, H. rhodesiensis and H. neanderthalensis) evolved out of African Homo erectus (sensu lato) or Homo ergaster.[63][64] Anthropologists support the idea that anatomically modern humans (Homo sapiens) evolved in North or East Africa from an archaic human species such as H. heidelbergensis and then migrated out of Africa, mixing with and replacing H. heidelbergensis and H. neanderthalensis populations throughout Europe and Asia, and H. rhodesiensis populations in Sub-Saharan Africa (a combination of the Out of Africa and Multiregional models).[65][verification needed]

In the early 20th century, many anthropologists taught that race was an entirely biological phenomenon and that this was core to a person's behavior and identity, a position commonly called racial essentialism.[66] This, coupled with a belief that linguistic, cultural, and social groups fundamentally existed along racial lines, formed the basis of what is now called scientific racism.[67] After the Nazi eugenics program, along with the rise of anti-colonial movements, racial essentialism lost widespread popularity.[68] New studies of culture and the fledgling field of population genetics undermined the scientific standing of racial essentialism, leading race anthropologists to revise their conclusions about the sources of phenotypic variation.[66] A significant number of modern anthropologists and biologists in the West came to view race as an invalid genetic or biological designation.[69]

The first to challenge the concept of race on empirical grounds were the anthropologists Franz Boas, who provided evidence of phenotypic plasticity due to environmental factors,[70] and Ashley Montagu, who relied on evidence from genetics.[71] E. O. Wilson then challenged the concept from the perspective of general animal systematics, and further rejected the claim that "races" were equivalent to "subspecies".[72]

Human genetic variation is predominantly within races, continuous, and complex in structure, which is inconsistent with the concept of genetic human races.[73] According to the biological anthropologist Jonathan Marks,[43]

By the 1970s, it had become clear that (1) most human differences were cultural; (2) what was not cultural was principally polymorphic that is to say, found in diverse groups of people at different frequencies; (3) what was not cultural or polymorphic was principally clinal that is to say, gradually variable over geography; and (4) what was left the component of human diversity that was not cultural, polymorphic, or clinal was very small.

A consensus consequently developed among anthropologists and geneticists that race as the previous generation had known it as largely discrete, geographically distinct, gene pools did not exist.

The term race in biology is used with caution because it can be ambiguous. Generally, when it is used it is effectively a synonym of subspecies.[74] (For animals, the only taxonomic unit below the species level is usually the subspecies;[75] there are narrower infraspecific ranks in botany, and race does not correspond directly with any of them.) Traditionally, subspecies are seen as geographically isolated and genetically differentiated populations.[76] Studies of human genetic variation show that human populations are not geographically isolated,[77] and their genetic differences are far smaller than those among comparable subspecies.[78]

In 1978, Sewall Wright suggested that human populations that have long inhabited separated parts of the world should, in general, be considered different subspecies by the criterion that most individuals of such populations can be allocated correctly by inspection. Wright argued that, "It does not require a trained anthropologist to classify an array of Englishmen, West Africans, and Chinese with 100% accuracy by features, skin color, and type of hair despite so much variability within each of these groups that every individual can easily be distinguished from every other."[79] While in practice subspecies are often defined by easily observable physical appearance, there is not necessarily any evolutionary significance to these observed differences, so this form of classification has become less acceptable to evolutionary biologists.[80] Likewise this typological approach to race is generally regarded as discredited by biologists and anthropologists.[81][14]

In 2000, philosopher Robin Andreasen proposed that cladistics might be used to categorize human races biologically, and that races can be both biologically real and socially constructed.[82] Andreasen cited tree diagrams of relative genetic distances among populations published by Luigi Cavalli-Sforza as the basis for a phylogenetic tree of human races (p.661). Biological anthropologist Jonathan Marks (2008) responded by arguing that Andreasen had misinterpreted the genetic literature: "These trees are phenetic (based on similarity), rather than cladistic (based on monophyletic descent, that is from a series of unique ancestors)."[83] Evolutionary biologist Alan Templeton (2013) argued that multiple lines of evidence falsify the idea of a phylogenetic tree structure to human genetic diversity, and confirm the presence of gene flow among populations.[29] Marks, Templeton, and Cavalli-Sforza all conclude that genetics does not provide evidence of human races.[29][84]

Previously, anthropologists Lieberman and Jackson (1995) had also critiqued the use of cladistics to support concepts of race. They argued that "the molecular and biochemical proponents of this model explicitly use racial categories in their initial grouping of samples". For example, the large and highly diverse macroethnic groups of East Indians, North Africans, and Europeans are presumptively grouped as Caucasians prior to the analysis of their DNA variation. They argued that this a priori grouping limits and skews interpretations, obscures other lineage relationships, deemphasizes the impact of more immediate clinal environmental factors on genomic diversity, and can cloud our understanding of the true patterns of affinity.[85]

In 2015, Keith Hunley, Graciela Cabana, and Jeffrey Long analyzed the Human Genome Diversity Project sample of 1,037 individuals in 52 populations,[86] finding that non-African populations are a taxonomic subgroup of African populations, that "some African populations are equally related to other African populations and to non-African populations," and that "outside of Africa, regional groupings of populations are nested inside one another, and many of them are not monophyletic."[86] Earlier research had also suggested that there has always been considerable gene flow between human populations, meaning that human population groups are not monophyletic.[76] Rachel Caspari has argued that, since no groups currently regarded as races are monophyletic, by definition none of these groups can be clades.

One crucial innovation in reconceptualizing genotypic and phenotypic variation was the anthropologist C. Loring Brace's observation that such variations, insofar as it is affected by natural selection, slow migration, or genetic drift, are distributed along geographic gradations or clines.[88] For example, with respect to skin color in Europe and Africa, Brace writes:

To this day, skin color grades by imperceptible means from Europe southward around the eastern end of the Mediterranean and up the Nile into Africa. From one end of this range to the other, there is no hint of a skin color boundary, and yet the spectrum runs from the lightest in the world at the northern edge to as dark as it is possible for humans to be at the equator.

In part this is due to isolation by distance. This point called attention to a problem common to phenotype-based descriptions of races (for example, those based on hair texture and skin color): they ignore a host of other similarities and differences (for example, blood type) that do not correlate highly with the markers for race. Thus, anthropologist Frank Livingstone's conclusion, that since clines cross racial boundaries, "there are no races, only clines".[90]

In a response to Livingstone, Theodore Dobzhansky argued that when talking about race one must be attentive to how the term is being used: "I agree with Dr. Livingstone that if races have to be 'discrete units', then there are no races, and if 'race' is used as an 'explanation' of the human variability, rather than vice versa, then the explanation is invalid." He further argued that one could use the term race if one distinguished between "race differences" and "the race concept". The former refers to any distinction in gene frequencies between populations; the latter is "a matter of judgment". He further observed that even when there is clinal variation, "Race differences are objectively ascertainable biological phenomena... but it does not follow that racially distinct populations must be given racial (or subspecific) labels."[90] In short, Livingstone and Dobzhansky agree that there are genetic differences among human beings; they also agree that the use of the race concept to classify people, and how the race concept is used, is a matter of social convention. They differ on whether the race concept remains a meaningful and useful social convention.

Skin color (above) and blood type B (below) are nonconcordant traits since their geographical distribution is not similar.

In 1964, the biologists Paul Ehrlich and Holm pointed out cases where two or more clines are distributed discordantly for example, melanin is distributed in a decreasing pattern from the equator north and south; frequencies for the haplotype for beta-S hemoglobin, on the other hand, radiate out of specific geographical points in Africa.[91] As the anthropologists Leonard Lieberman and Fatimah Linda Jackson observed, "Discordant patterns of heterogeneity falsify any description of a population as if it were genotypically or even phenotypically homogeneous".[85]

Patterns such as those seen in human physical and genetic variation as described above, have led to the consequence that the number and geographic location of any described races is highly dependent on the importance attributed to, and quantity of, the traits considered. Scientists discovered a skin-lighting mutation that partially accounts for the appearance of Light skin in humans (people who migrated out of Africa northward into what is now Europe) which they estimate occurred 20,000 to 50,000 years ago. The East Asians owe their relatively light skin to different mutations.[92] On the other hand, the greater the number of traits (or alleles) considered, the more subdivisions of humanity are detected, since traits and gene frequencies do not always correspond to the same geographical location. Or as Ossorio & Duster (2005) put it:

Anthropologists long ago discovered that humans' physical traits vary gradually, with groups that are close geographic neighbors being more similar than groups that are geographically separated. This pattern of variation, known as clinal variation, is also observed for many alleles that vary from one human group to another. Another observation is that traits or alleles that vary from one group to another do not vary at the same rate. This pattern is referred to as nonconcordant variation. Because the variation of physical traits is clinal and nonconcordant, anthropologists of the late 19th and early 20th centuries discovered that the more traits and the more human groups they measured, the fewer discrete differences they observed among races and the more categories they had to create to classify human beings. The number of races observed expanded to the 1930s and 1950s, and eventually anthropologists concluded that there were no discrete races.[93] Twentieth and 21st century biomedical researchers have discovered this same feature when evaluating human variation at the level of alleles and allele frequencies. Nature has not created four or five distinct, nonoverlapping genetic groups of people.

Another way to look at differences between populations is to measure genetic differences rather than physical differences between groups. The mid-20th-century anthropologist William C. Boyd defined race as: "A population which differs significantly from other populations in regard to the frequency of one or more of the genes it possesses. It is an arbitrary matter which, and how many, gene loci we choose to consider as a significant 'constellation'".[94] Leonard Lieberman and Rodney Kirk have pointed out that "the paramount weakness of this statement is that if one gene can distinguish races then the number of races is as numerous as the number of human couples reproducing."[95] Moreover, the anthropologist Stephen Molnar has suggested that the discordance of clines inevitably results in a multiplication of races that renders the concept itself useless.[96] The Human Genome Project states "People who have lived in the same geographic region for many generations may have some alleles in common, but no allele will be found in all members of one population and in no members of any other."[97] Massimo Pigliucci and Jonathan Kaplan argue that human races do exist, and that they correspond to the genetic classification of ecotypes, but that real human races do not correspond very much, if at all, to folk racial categories.[98] In contrast, Walsh & Yun reviewed the literature in 2011 and reported that "Genetic studies using very few chromosomal loci find that genetic polymorphisms divide human populations into clusters with almost 100 percent accuracy and that they correspond to the traditional anthropological categories."[99]

Some biologists argue that racial categories correlate with biological traits (e.g. phenotype), and that certain genetic markers have varying frequencies among human populations, some of which correspond more or less to traditional racial groupings.

The distribution of genetic variants within and among human populations are impossible to describe succinctly because of the difficulty of defining a population, the clinal nature of variation, and heterogeneity across the genome (Long and Kittles 2003). In general, however, an average of 85% of statistical genetic variation exists within local populations, ~7% is between local populations within the same continent, and ~8% of variation occurs between large groups living on different continents.[102] The recent African origin theory for humans would predict that in Africa there exists a great deal more diversity than elsewhere and that diversity should decrease the further from Africa a population is sampled. Hence, the 85% average figure is misleading: Long and Kittles find that rather than 85% of human genetic diversity existing in all human populations, about 100% of human diversity exists in a single African population, whereas only about 60% of human genetic diversity exists in the least diverse population they analyzed (the Surui, a population derived from New Guinea).[103] Statistical analysis that takes this difference into account confirms previous findings that, "Western-based racial classifications have no taxonomic significance."[86]

A 2002 study of random biallelic genetic loci found little to no evidence that humans were divided into distinct biological groups.[104]

In his 2003 paper, "Human Genetic Diversity: Lewontin's Fallacy", A. W. F. Edwards argued that rather than using a locus-by-locus analysis of variation to derive taxonomy, it is possible to construct a human classification system based on characteristic genetic patterns, or clusters inferred from multilocus genetic data.[105][106] Geographically based human studies since have shown that such genetic clusters can be derived from analyzing of a large number of loci which can assort individuals sampled into groups analogous to traditional continental racial groups.[107] Joanna Mountain and Neil Risch cautioned that while genetic clusters may one day be shown to correspond to phenotypic variations between groups, such assumptions were premature as the relationship between genes and complex traits remains poorly understood.[109] However, Risch denied such limitations render the analysis useless: "Perhaps just using someone's actual birth year is not a very good way of measuring age. Does that mean we should throw it out? ... Any category you come up with is going to be imperfect, but that doesn't preclude you from using it or the fact that it has utility."[110]

Early human genetic cluster analysis studies were conducted with samples taken from ancestral population groups living at extreme geographic distances from each other. It was thought that such large geographic distances would maximize the genetic variation between the groups sampled in the analysis, and thus maximize the probability of finding cluster patterns unique to each group. In light of the historically recent acceleration of human migration (and correspondingly, human gene flow) on a global scale, further studies were conducted to judge the degree to which genetic cluster analysis can pattern ancestrally identified groups as well as geographically separated groups. One such study looked at a large multiethnic population in the United States, and "detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity as opposed to current residence is the major determinant of genetic structure in the U.S. population."

Witherspoon et al. (2007) have argued that even when individuals can be reliably assigned to specific population groups, it may still be possible for two randomly chosen individuals from different populations/clusters to be more similar to each other than to a randomly chosen member of their own cluster. They found that many thousands of genetic markers had to be used in order for the answer to the question "How often is a pair of individuals from one population genetically more dissimilar than two individuals chosen from two different populations?" to be "never". This assumed three population groups separated by large geographic ranges (European, African and East Asian). The entire world population is much more complex and studying an increasing number of groups would require an increasing number of markers for the same answer. The authors conclude that "caution should be used when using geographic or genetic ancestry to make inferences about individual phenotypes."[111] Witherspoon, et al. concluded that, "The fact that, given enough genetic data, individuals can be correctly assigned to their populations of origin is compatible with the observation that most human genetic variation is found within populations, not between them. It is also compatible with our nding that, even when the most distinct populations are considered and hundreds of loci are used, individuals are frequently more similar to members of other populations than to members of their own population."[111]

Anthropologists such as C. Loring Brace,[112] the philosophers Jonathan Kaplan and Rasmus Winther,[113][114][115] and the geneticist Joseph Graves,[19] have argued that while there it is certainly possible to find biological and genetic variation that corresponds roughly to the groupings normally defined as "continental races", this is true for almost all geographically distinct populations. The cluster structure of the genetic data is therefore dependent on the initial hypotheses of the researcher and the populations sampled. When one samples continental groups, the clusters become continental; if one had chosen other sampling patterns, the clustering would be different. Weiss and Fullerton have noted that if one sampled only Icelanders, Mayans and Maoris, three distinct clusters would form and all other populations could be described as being clinally composed of admixtures of Maori, Icelandic and Mayan genetic materials.[117] Kaplan and Winther therefore argue that, seen in this way, both Lewontin and Edwards are right in their arguments. They conclude that while racial groups are characterized by different allele frequencies, this does not mean that racial classification is a natural taxonomy of the human species, because multiple other genetic patterns can be found in human populations that crosscut racial distinctions. Moreover, the genomic data underdetermines whether one wishes to see subdivisions (i.e., splitters) or a continuum (i.e., lumpers). Under Kaplan and Winther's view, racial groupings are objective social constructions (see Mills 1998[118]) that have conventional biological reality only insofar as the categories are chosen and constructed for pragmatic scientific reasons. In earlier work, Winther had identified "diversity partitioning" and "clustering analysis" as two separate methodologies, with distinct questions, assumptions, and protocols. Each is also associated with opposing ontological| consequences vis-a-vis the metaphysics of race.[119] Philosopher Lisa Gannett has argued that biogeographical ancestry, a concept devised by Mark Shriver and Tony Frudakis, is not an objective measure of the biological aspects of race as Shriver and Frudakis claim it is. She argues that it is actually just a "local category shaped by the U.S. context of its production, especially the forensic aim of being able to predict the race or ethnicity of an unknown suspect based on DNA found at the crime scene."[120]

Recent studies of human genetic clustering have included a debate over how genetic variation is organized, with clusters and clines as the main possible orderings. Serre & Pbo (2004) argued for smooth, clinal genetic variation in ancestral populations even in regions previously considered racially homogeneous, with the apparent gaps turning out to be artifacts of sampling techniques. Rosenberg et al. (2005) disputed this and offered an analysis of the Human Genetic Diversity Panel showing that there were small discontinuities in the smooth genetic variation for ancestral populations at the location of geographic barriers such as the Sahara, the Oceans, and the Himalayas. Nonetheless, Rosenberg et al. (2005) stated that their findings "should not be taken as evidence of our support of any particular concept of biological race... Genetic differences among human populations derive mainly from gradations in allele frequencies rather than from distinctive 'diagnostic' genotypes." Using a sample of 40 populations distributed roughly evenly across the Earth's land surface, Xing & et. al. (2010, p.208) found that "genetic diversity is distributed in a more clinal pattern when more geographically intermediate populations are sampled."

Guido Barbujani has written that human genetic variation is generally distributed continuously in gradients across much of Earth, and that there is no evidence that genetic boundaries between human populations exist as would be necessary for human races to exist.[121]

Over time, human genetic variation has formed a nested structure that is inconsistent with the concept of races that have evolved independently of one another.[122]

As anthropologists and other evolutionary scientists have shifted away from the language of race to the term population to talk about genetic differences, historians, cultural anthropologists and other social scientists re-conceptualized the term "race" as a cultural category or social construct, i.e., a way among many possible ways in which a society chooses to divide its members into categories.

Many social scientists have replaced the word race with the word "ethnicity" to refer to self-identifying groups based on beliefs concerning shared culture, ancestry and history. Alongside empirical and conceptual problems with "race", following the Second World War, evolutionary and social scientists were acutely aware of how beliefs about race had been used to justify discrimination, apartheid, slavery, and genocide. This questioning gained momentum in the 1960s during the civil rights movement in the United States and the emergence of numerous anti-colonial movements worldwide. They thus came to believe that race itself is a social construct, a concept that was believed to correspond to an objective reality but which was believed in because of its social functions.[123]

Craig Venter and Francis Collins of the National Institute of Health jointly made the announcement of the mapping of the human genome in 2000. Upon examining the data from the genome mapping, Venter realized that although the genetic variation within the human species is on the order of 13% (instead of the previously assumed 1%), the types of variations do not support notion of genetically defined races. Venter said, "Race is a social concept. It's not a scientific one. There are no bright lines (that would stand out), if we could compare all the sequenced genomes of everyone on the planet." "When we try to apply science to try to sort out these social differences, it all falls apart."[124]

Anthropologist Stephan Palmi has argued that race "is not a thing but a social relation"; or, in the words of Katya Gibel Mevorach, "a metonym", "a human invention whose criteria for differentiation are neither universal nor fixed but have always been used to manage difference." As such, the use of the term "race" itself must be analyzed. Moreover, they argue that biology will not explain why or how people use the idea of race; only history and social relationships will.

Imani Perry has argued that race "is produced by social arrangements and political decision making",[127] and that "race is something that happens, rather than something that is. It is dynamic, but it holds no objective truth."[128] Similarly, Racial Culture: A Critique (2005), Richard T. Ford argued that while "there is no necessary correspondence between the ascribed identity of race and one's culture or personal sense of self" and "group difference is not intrinsic to members of social groups but rather contingent o[n] the social practices of group identification", the social practices of identity politics may coerce individuals into the "compulsory" enactment of "prewritten racial scripts".[129]

Compared to 19th-century United States, 20th-century Brazil was characterized by a perceived relative absence of sharply defined racial groups. According to anthropologist Marvin Harris, this pattern reflects a different history and different social relations.

Race in Brazil was "biologized", but in a way that recognized the difference between ancestry (which determines genotype) and phenotypic differences. There, racial identity was not governed by rigid descent rule, such as the one-drop rule, as it was in the United States. A Brazilian child was never automatically identified with the racial type of one or both parents, nor were there only a very limited number of categories to choose from,[130] to the extent that full siblings can pertain to different racial groups.[131]

Over a dozen racial categories would be recognized in conformity with all the possible combinations of hair color, hair texture, eye color, and skin color. These types grade into each other like the colors of the spectrum, and not one category stands significantly isolated from the rest. That is, race referred preferentially to appearance, not heredity, and appearance is a poor indication of ancestry, because only a few genes are responsible for someone's skin color and traits: a person who is considered white may have more African ancestry than a person who is considered black, and the reverse can be also true about European ancestry.[133] The complexity of racial classifications in Brazil reflects the extent of genetic mixing in Brazilian society, a society that remains highly, but not strictly, stratified along color lines. These socioeconomic factors are also significant to the limits of racial lines, because a minority of pardos, or brown people, are likely to start declaring themselves white or black if socially upward,[134] and being seen as relatively "whiter" as their perceived social status increases (much as in other regions of Latin America).[135]

Fluidity of racial categories aside, the "biologification" of race in Brazil referred above would match contemporary concepts of race in the United States quite closely, though, if Brazilians are supposed to choose their race as one among, Asian and Indigenous apart, three IBGE's census categories. While assimilated Amerindians and people with very high quantities of Amerindian ancestry are usually grouped as caboclos, a subgroup of pardos which roughly translates as both mestizo and hillbilly, for those of lower quantity of Amerindian descent a higher European genetic contribution is expected to be grouped as a pardo. In several genetic tests, people with less than 60-65% of European descent and 510% of Amerindian descent usually cluster with Afro-Brazilians (as reported by the individuals), or 6.9% of the population, and those with about 45% or more of Subsaharan contribution most times do so (in average, Afro-Brazilian DNA was reported to be about 50% Subsaharan African, 37% European and 13% Amerindian).[136][137][138][139]

If a more consistent report with the genetic groups in the gradation of genetic mixing is to be considered (e.g. that would not cluster people with a balanced degree of African and non-African ancestry in the black group instead of the multiracial one, unlike elsewhere in Latin America where people of high quantity of African descent tend to classify themselves as mixed), more people would report themselves as white and pardo in Brazil (47.7% and 42.4% of the population as of 2010, respectively), because by research its population is believed to have between 65 and 80% of autosomal European ancestry, in average (also >35% of European mt-DNA and >95% of European Y-DNA).[136][142][143][144]

From the last decades of the Empire until the 1950s, the proportion of the white population increased significantly while Brazil welcomed 5.5 million immigrants between 1821 and 1932, not much behind its neighbor Argentina with 6.4 million,[145] and it received more European immigrants in its colonial history than the United States. Between 1500 and 1760, 700.000 Europeans settled in Brazil, while 530.000 Europeans settled in the United States for the same given time.[146] Thus, the historical construction of race in Brazilian society dealt primarily with gradations between persons of majority European ancestry and little minority groups with otherwise lower quantity therefrom in recent times.

According to the Council of the European Union:

The European Union rejects theories which attempt to determine the existence of separate human races.

The European Union uses the terms racial origin and ethnic origin synonymously in its documents and according to it "the use of the term 'racial origin' in this directive does not imply an acceptance of such [racial] theories".[147][148][full citation needed] Haney Lpez[who?] warns that using "race" as a category within the law tends to legitimize its existence in the popular imagination. In the diverse geographic context of Europe, ethnicity and ethnic origin are arguably more resonant and are less encumbered by the ideological baggage associated with "race". In European context, historical resonance of "race" underscores its problematic nature. In some states, it is strongly associated with laws promulgated by the Nazi and Fascist governments in Europe during the 1930s and 1940s. Indeed, in 1996, the European Parliament adopted a resolution stating that "the term should therefore be avoided in all official texts".[149]

The concept of racial origin relies on the notion that human beings can be separated into biologically distinct "races", an idea generally rejected by the scientific community. Since all human beings belong to the same species, the ECRI (European Commission against Racism and Intolerance) rejects theories based on the existence of different "races". However, in its Recommendation ECRI uses this term in order to ensure that those persons who are generally and erroneously perceived as belonging to "another race" are not excluded from the protection provided for by the legislation. The law claims to reject the existence of "race", yet penalize situations where someone is treated less favourably on this ground.[149]

The immigrants to the United States came from every region of Europe, Africa, and Asia. They mixed among themselves and with the indigenous inhabitants of the continent. In the United States most people who self-identify as African American have some European ancestors, while many people who identify as European American have some African or Amerindian ancestors.

Since the early history of the United States, Amerindians, African Americans, and European Americans have been classified as belonging to different races. Efforts to track mixing between groups led to a proliferation of categories, such as mulatto and octoroon. The criteria for membership in these races diverged in the late 19th century. During Reconstruction, increasing numbers of Americans began to consider anyone with "one drop" of known "Black blood" to be Black, regardless of appearance. By the early 20th century, this notion was made statutory in many states. Amerindians continue to be defined by a certain percentage of "Indian blood" (called blood quantum). To be White one had to have perceived "pure" White ancestry. The one-drop rule or hypodescent rule refers to the convention of defining a person as racially black if he or she has any known African ancestry. This rule meant that those that were mixed race but with some discernible African ancestry were defined as black. The one-drop rule is specific to not only those with African ancestry but to the United States, making it a particularly African-American experience.[150]

The decennial censuses conducted since 1790 in the United States created an incentive to establish racial categories and fit people into these categories.[151]

The term "Hispanic" as an ethnonym emerged in the 20th century with the rise of migration of laborers from the Spanish-speaking countries of Latin America to the United States. Today, the word "Latino" is often used as a synonym for "Hispanic". The definitions of both terms are non-race specific, and include people who consider themselves to be of distinct races (Black, White, Amerindian, Asian, and mixed groups).[152] However, there is a common misconception in the US that Hispanic/Latino is a race[153] or sometimes even that national origins such as Mexican, Cuban, Colombian, Salvadoran, etc. are races. In contrast to "Latino" or "Hispanic", "Anglo" refers to non-Hispanic White Americans or non-Hispanic European Americans, most of whom speak the English language but are not necessarily of English descent.

The concept of race classification in physical anthropology lost credibility around the 1960s and is now considered untenable.[154] A 2019 statement by the American Association of Physical Anthropologists declares:

Race does not provide an accurate representation of human biological variation. It was never accurate in the past, and it remains inaccurate when referencing contemporary human populations. Humans are not divided biologically into distinct continental types or racial genetic clusters. Instead, the Western concept of race must be understood as a classification system that emerged from, and in support of, European colonialism, oppression, and discrimination.[81]

Wagner et al. (2017) surveyed 3,286 American anthropologists' views on race and genetics, including both cultural and biological anthropologists. They found a consensus among them that biological races do not exist in humans, but that race does exist insofar as the social experiences of members of different races can have significant effects on health.[155]

Wang, trkalj et al. (2003) examined the use of race as a biological concept in research papers published in China's only biological anthropology journal, Acta Anthropologica Sinica. The study showed that the race concept was widely used among Chinese anthropologists.[156][157] In a 2007 review paper, trkalj suggested that the stark contrast of the racial approach between the United States and China was due to the fact that race is a factor for social cohesion among the ethnically diverse people of China, whereas "race" is a very sensitive issue in America and the racial approach is considered to undermine social cohesion with the result that in the socio-political context of US academics scientists are encouraged not to use racial categories, whereas in China they are encouraged to use them.[158]

Lieberman et al. in a 2004 study researched the acceptance of race as a concept among anthropologists in the United States, Canada, the Spanish speaking areas, Europe, Russia and China. Rejection of race ranged from high to low, with the highest rejection rate in the United States and Canada, a moderate rejection rate in Europe, and the lowest rejection rate in Russia and China. Methods used in the studies reported included questionnaires and content analysis.[18]

Kaszycka et al. (2009) in 20022003 surveyed European anthropologists' opinions toward the biological race concept. Three factors, country of academic education, discipline, and age, were found to be significant in differentiating the replies. Those educated in Western Europe, physical anthropologists, and middle-aged persons rejected race more frequently than those educated in Eastern Europe, people in other branches of science, and those from both younger and older generations." The survey shows that the views on race are sociopolitically (ideologically) influenced and highly dependent on education."[159]

Since the second half of the 20th century, physical anthropology in the United States has moved away from a typological understanding of human biological diversity towards a genomic and population-based perspective. Anthropologists have tended to understand race as a social classification of humans based on phenotype and ancestry as well as cultural factors, as the concept is understood in the social sciences. Since 1932, an increasing number of college textbooks introducing physical anthropology have rejected race as a valid concept: from 1932 to 1976, only seven out of thirty-two rejected race; from 1975 to 1984, thirteen out of thirty-three rejected race; from 1985 to 1993, thirteen out of nineteen rejected race. According to one academic journal entry, where 78 percent of the articles in the 1931 Journal of Physical Anthropology employed these or nearly synonymous terms reflecting a bio-race paradigm, only 36 percent did so in 1965, and just 28 percent did in 1996.[161]

A 1998 "Statement on 'Race'" composed by a select committee of anthropologists and issued by the executive board of the American Anthropological Association, which they argue "represents generally the contemporary thinking and scholarly positions of a majority of anthropologists", declares:[162]

In the United States both scholars and the general public have been conditioned to viewing human races as natural and separate divisions within the human species based on visible physical differences. With the vast expansion of scientific knowledge in this century, however, it has become clear that human populations are not unambiguous, clearly demarcated, biologically distinct groups. Evidence from the analysis of genetics (e.g., DNA) indicates that most physical variation, about 94%, lies within so-called racial groups. Conventional geographic "racial" groupings differ from one another only in about 6% of their genes. This means that there is greater variation within "racial" groups than between them. In neighboring populations there is much overlapping of genes and their phenotypic (physical) expressions. Throughout history whenever different groups have come into contact, they have interbred. The continued sharing of genetic materials has maintained all of humankind as a single species. [...]With the vast expansion of scientific knowledge in this century, ... it has become clear that human populations are not unambiguous, clearly demarcated, biologically distinct groups. [...] Given what we know about the capacity of normal humans to achieve and function within any culture, we conclude that present-day inequalities between so-called "racial" groups are not consequences of their biological inheritance but products of historical and contemporary social, economic, educational, and political circumstances.

An earlier survey, conducted in 1985 (Lieberman et al. 1992), asked 1,200 American scientists how many disagree with the following proposition: "There are biological races in the species Homo sapiens." Among anthropologists, the responses were:

Lieberman's study also showed that more women reject the concept of race than men.[164]

The same survey, conducted again in 1999,[165] showed that the number of anthropologists disagreeing with the idea of biological race had risen substantially. The results were as follows:

A line of research conducted by Cartmill (1998), however, seemed to limit the scope of Lieberman's finding that there was "a significant degree of change in the status of the race concept". Goran trkalj has argued that this may be because Lieberman and collaborators had looked at all the members of the American Anthropological Association irrespective of their field of research interest, while Cartmill had looked specifically at biological anthropologists interested in human variation.[166]

In 2007, Ann Morning interviewed over 40 American biologists and anthropologists and found significant disagreements over the nature of race, with no one viewpoint holding a majority among either group. Morning also argues that a third position, "antiessentialism", which holds that race is not a useful concept for biologists, should be introduced into this debate in addition to "constructionism" and "essentialism".[167]

According to the 2000 University of Wyoming edition of a popular physical anthropology textbook, forensic anthropologists are overwhelmingly in support of the idea of the basic biological reality of human races. Forensic physical anthropologist and professor George W. Gill has said that the idea that race is only skin deep "is simply not true, as any experienced forensic anthropologist will affirm" and "Many morphological features tend to follow geographic boundaries coinciding often with climatic zones. This is not surprising since the selective forces of climate are probably the primary forces of nature that have shaped human races with regard not only to skin color and hair form but also the underlying bony structures of the nose, cheekbones, etc. (For example, more prominent noses humidify air better.)" While he can see good arguments for both sides, the complete denial of the opposing evidence "seems to stem largely from socio-political motivation and not science at all". He also states that many biological anthropologists see races as real yet "not one introductory textbook of physical anthropology even presents that perspective as a possibility. In a case as flagrant as this, we are not dealing with science but rather with blatant, politically motivated censorship".

In partial response to Gill's statement, Professor of Biological Anthropology C. Loring Brace argues that the reason laymen and biological anthropologists can determine the geographic ancestry of an individual can be explained by the fact that biological characteristics are clinally distributed across the planet, and that does not translate into the concept of race. He states:

Well, you may ask, why can't we call those regional patterns "races"? In fact, we can and do, but it does not make them coherent biological entities. "Races" defined in such a way are products of our perceptions. ... We realize that in the extremes of our transit Moscow to Nairobi, perhaps there is a major but gradual change in skin color from what we euphemistically call white to black, and that this is related to the latitudinal difference in the intensity of the ultraviolet component of sunlight. What we do not see, however, is the myriad other traits that are distributed in a fashion quite unrelated to the intensity of ultraviolet radiation. Where skin color is concerned, all the northern populations of the Old World are lighter than the long-term inhabitants near the equator. Although Europeans and Chinese are obviously different, in skin color they are closer to each other than either is to equatorial Africans. But if we test the distribution of the widely known ABO blood-group system, then Europeans and Africans are closer to each other than either is to Chinese.

The concept of "race" is still sometimes used within forensic anthropology (when analyzing skeletal remains), biomedical research, and race-based medicine.[170][171] Brace has criticized forensic anthropologists for this, arguing that they in fact should be talking about regional ancestry. He argues that while forensic anthropologists can determine that a skeletal remain comes from a person with ancestors in a specific region of Africa, categorizing that skeletal as being "black" is a socially constructed category that is only meaningful in the particular social context of the United States, and which is not itself scientifically valid.[172]

In the same 1985 survey (Lieberman et al. 1992), 16% of the surveyed biologists and 36% of the surveyed developmental psychologists disagreed with the proposition: "There are biological races in the species Homo sapiens."

The authors of the study also examined 77 college textbooks in biology and 69 in physical anthropology published between 1932 and 1989. Physical anthropology texts argued that biological races exist until the 1970s, when they began to argue that races do not exist. In contrast, biology textbooks did not undergo such a reversal but many instead dropped their discussion of race altogether. The authors attributed this to biologists trying to avoid discussing the political implications of racial classifications, and to the ongoing discussions in biology about the validity of the idea of "subspecies". The authors concluded, "The concept of race, masking the overwhelming genetic similarity of all peoples and the mosaic patterns of variation that do not correspond to racial divisions, is not only socially dysfunctional but is biologically indefensible as well (pp. 5 185 19)."(Lieberman et al. 1992, pp.31617)

A 1994 examination of 32 English sport/exercise science textbooks found that 7 (21.9%) claimed that there are biophysical differences due to race that might explain differences in sports performance, 24 (75%) did not mention nor refute the concept, and 1 (3.1%) expressed caution with the idea.[173]

In February 2001, the editors of Archives of Pediatrics and Adolescent Medicine asked "authors to not use race and ethnicity when there is no biological, scientific, or sociological reason for doing so."[174] The editors also stated that "analysis by race and ethnicity has become an analytical knee-jerk reflex."[175] Nature Genetics now ask authors to "explain why they make use of particular ethnic groups or populations, and how classification was achieved."[176]

Morning (2008) looked at high school biology textbooks during the 19522002 period and initially found a similar pattern with only 35% directly discussing race in the 198392 period from initially 92% doing so. However, this has increased somewhat after this to 43%. More indirect and brief discussions of race in the context of medical disorders have increased from none to 93% of textbooks. In general, the material on race has moved from surface traits to genetics and evolutionary history. The study argues that the textbooks' fundamental message about the existence of races has changed little.[177]

Surveying views on race in the scientific community in 2008, Morning concluded that biologists had failed to come to a clear consensus, and they often split along cultural and demographic lines. She notes, "At best, one can conclude that biologists and anthropologists now appear equally divided in their beliefs about the nature of race."[167]

Gissis (2008) examined several important American and British journals in genetics, epidemiology and medicine for their content during the 19462003 period. He wrote that "Based upon my findings I argue that the category of race only seemingly disappeared from scientific discourse after World War II and has had a fluctuating yet continuous use during the time span from 1946 to 2003, and has even become more pronounced from the early 1970s on".[178]

33 health services researchers from differing geographic regions were interviewed in a 2008 study. The researchers recognized the problems with racial and ethnic variables but the majority still believed these variables were necessary and useful.[179]

A 2010 examination of 18 widely used English anatomy textbooks found that they all represented human biological variation in superficial and outdated ways, many of them making use of the race concept in ways that were current in 1950s anthropology. The authors recommended that anatomical education should describe human anatomical variation in more detail and rely on newer research that demonstrates the inadequacies of simple racial typologies.[180]

Lester Frank Ward (1841-1913), considered to be one of the founders of American sociology, rejected notions that there were fundamental differences that distinguished one race from another, although he acknowledged that social conditions differed dramatically by race.[181] At the turn of the 20th century, sociologists viewed the concept of race in ways that were shaped by the scientific racism of the 19th and early 20th centuries.[182] Many sociologists focused on African Americans, called Negroes at that time, and claimed that they were inferior to whites. White sociologist Charlotte Perkins Gilman (18601935), for example, used biological arguments to claim the inferiority of African Americans.[182] American sociologist Charles H. Cooley (18641929) theorized that differences among races were "natural," and that biological differences result in differences in intellectual abilities[183][181] Edward Alsworth Ross (1866-1951), also an important figure in the founding of American sociology, and an eugenicist, believed that whites were the superior race, and that there were essential differences in "temperament" among races.[181] In 1910, the Journal published an article by Ulysses G. Weatherly (1865-1940) that called for white supremacy and segregation of the races to protect racial purity.[181]

W. E. B. Du Bois (18681963), one of the first African-American sociologists, was the first sociologist to use sociological concepts and empirical research methods to analyze race as a social construct instead of a biological reality.[182] Beginning in 1899 with his book The Philadelphia Negro, Du Bois studied and wrote about race and racism throughout his career. In his work, he contended that social class, colonialism, and capitalism shaped ideas about race and racial categories. Social scientists largely abandoned scientific racism and biological reasons for racial categorization schemes by the 1930s.[184] Other early sociologists, especially those associated with the Chicago School, joined Du Bois in theorizing race as a socially constructed fact.[184] By 1978, William Julius Wilson argued that race and racial classification systems were declining in significance, and that instead, social class more accurately described what sociologists had earlier understood as race.[185] By 1986, sociologists Michael Omi and Howard Winant successfully introduced the concept of racial formation to describe the process by which racial categories are created.[186] Omi and Winant assert that "there is no biological basis for distinguishing among human groups along the lines of race."[186]

View original post here:
Race (human categorization) - Wikipedia

The goal of the Graduate Program of the Department of Human Genetics at UCLA is to train the next generation of leaders in human genetics and genomics. This rapidly evolving field of research incorporates multiple areas of modern experimental biology (including but not limited to molecular and behavioral genetics, epigenetics, biochemisty, cell and developmental biology, imaging, and large-scale omics approaches such as genomics, transcriptomics and functional genomics) and of computational biology (including bioinformatics and biostatistics). In their research, students tackle Mendelian diseases and genetically complex traits of key relevance to human health.

Our Graduate Programhosts theGenetics and Genomics Home Areaof theGraduate Programs in Bioscience(GPB). We are also associated withUCLA-Caltech Medical Scientist Training Program(MSTP). Prospective students may apply through theGPB orMSTP admission mechanisms.

The program offers:

A wide variety of courses are offered to equip future independent researchers with fundamental knowledge about state-of-the-art methods for generating experimental data on a genome-wide scale and computational and statistical approaches to draw from the data sound conclusions of biological and medical significance. In addition, courses on medical and ethical issues provide students with a societal perspective on human genetics.

Since its creation in 1998, more than 80 students have graduated from our program. As of September 2020, the average time to degree (defined as the time since admission to graduate school at UCLA, including years spent in other graduate programs) of our Ph.D. Program is 5.31 years. Many of our alumni have published parts of their dissertation work in top scientifc journals and become successful scientists in academy or industry.

PROGRAM REQUIREMENTS

The main goal of our Home Area is to inspire and educate young scientists in Genetics and Genomics. This is the best time in history to join our field, as fast and cost-effective high-throughput sequencing of multiple types and layers of genomic information are rapidly revolutionizing the role of Genetics and Genomics in medicine and society. Research in Genetics and Genomics is quickly becoming the key source of new insights, better understanding, and targeted treatments of both rare monogenic diseases and common complex diseases such as coronary heart disease, cancer, autism, and diabetes.

The investigators at the Genetics and Genomics Home Area at UCLA are developing networks, systems, and other multilayer approaches combining large data sets and high-throughput information at genomic, transcriptomics, methylomics, proteomics, metabolomics, and phenome level to address the complex architecture and multiple properties leading to human disease. The overall research emphasis of the Genetics and Genomics Home Area at UCLA is on identification and characterization of genes, pathways, and molecular mechanisms converting human health to a disease, utilizing new and state-of-the-art computational, bioinformatics, and molecular genetic and genomics approaches in an integrative way. Investigation across species, in model organisms, and at the cellular level is also utilized to elucidate fundamental biological principles and disease-causing mechanisms. The broad expertise among the researchers in our Home Area extends from plant, animal, and human molecular genetics and genomics to computational biology and systems genomics.

In our research efforts, we highly value interdisciplinary knowledge and institutional, national, and international collaboration as the core of our success. Translation to novel medical preventative tools and targeted treatments is the key research goal of the studies in the Genetics and Genomics Home Area. We anticipate that these translational and multilayer genomics approaches will soon lay a foundation for personalized medicine that allows interpretation of biological high-throughput data at multiple levels through-out an individuals life in order to tailor preventative measurements and treatments based on his/her genetic, behavioral, and environmental makeup.

More:
Genetics and Genomics Home Area - Human Genetics - Los ...

Review

Affiliations Expand

Item in Clipboard

Review

Stacy Colacoet al. Reprod Biol Endocrinol. 2018.

Display options

Format Abstract PubMed PMID

Item in Clipboard

Display options

Format AbstractPubMedPMID

The human Y chromosome harbors genes that are responsible for testis development and also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y chromosome (Yq) contains many ampliconic and palindromic sequences making it predisposed to self-recombination during spermatogenesis and hence susceptible to intra-chromosomal deletions. Such deletions lead to copy number variation in genes of the Y chromosome resulting in male infertility. Three common Yq deletions that recur in infertile males are termed as AZF (Azoospermia Factor) microdeletions viz. AZFa, AZFb and AZFc. As estimated from data of nearly 40,000 Y chromosomes, the global prevalence of Yq microdeletions is 7.5% in infertile males; however the European infertile men are less susceptible to Yq microdeletions, the highest prevalence is in Americans and East Asian infertile men. In addition, partial deletions of the AZFc locus have been associated with infertility but the effect seems to be ethnicity dependent. Analysis of > 17,000 Y chromosomes from fertile and infertile men has revealed an association of gr/gr deletion with male infertility in Caucasians and Mongolian men, while the b2/b3 deletion is associated with male infertility in African and Dravidian men. Clinically, the screening for Yq microdeletions would aid the clinician in determining the cause of male infertility and decide a rational management strategy for the patient. As these deletions are transmitted to 100% of male offspring born through assisted reproduction, testing of Yq deletions will allow the couples to make an informed choice regarding the perpetuation of male infertility in future generations. With the emerging data on association of Yq deletions with testicular cancers and neuropsychiatric conditions long term follow-up data is urgently needed for infertile men harboring Yq deletions. If found so, the information will change the current the perspective of androgenetics from infertility and might have broad implication in men health.

Keywords: AZF; AZFc; Infertility; Microdeletions; Prevalence; Spermatogenesis; Y chromosome; gr/gr deletions.

DM is scientist E and Head of Molecular Biology, Indian Council of Medical Research, National Institute for Research in Reproductive Health, Mumbai, India. SC is a post-doctoral fellow, Indian Council of Medical Research, National Institute for Research in Reproductive Health, Mumbai, India.

Not applicable as it is a review article.

Not applicable.

The authors declare that they have no competing interests.

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Fig. 1

Structure of the human Y

Fig. 1

Structure of the human Y chromosome. The Pseudo Autosomal Regions [PAR1 and PAR2]

Structure of the human Y chromosome. The Pseudo Autosomal Regions [PAR1 and PAR2] are located at the terminal ends of the Y chromosome. The green boxes show the genes encoded in these regions. Yp is the short arm of the Y chromosome and the genes within it are show in the peach box. The long arm, Yq, is composed of both euchromatin and the genetically inactive heterochromatin regions. This region contains the Azoospermia factors AZFa, AZFb and AZFc. The pink box shows the genes in the AZFa region. The heterochromatin is not known to harbor any known genes. The region beyond the PAR is termed as Male Specific Region on Y (MSY)

Fig. 2

Schematic organization of the AZFb

Fig. 2

Schematic organization of the AZFb and c loci depicting how the various microdeletions

Schematic organization of the AZFb and c loci depicting how the various microdeletions arise. The AZFb and c regions are located in the euchromatic region on the Yq. Both regions share a number of genes [pink box], the genes present in the AZFb region are shown in the green box while the genes present in the AZFc region are present in the blue box. The grey arrows depict the orientation of the genes and the grey bars depict the organisation of the amplicons into palindromes [P1 to P5]. The AZFb and AZFc loci are composed of numerous stretches of ampliconic sequences [block arrows] which are annotated as six colour-coded sequence families (yellow, blue, turquoise, green, red and grey) called amplicons. The size and orientation of the coloured arrows represents the length and orientation of the arrows. AZFb is defined by the P5/proximal P1 deletion (yel3/yel1) which removes 6.23Mb of DNA and AZFc by the b2/b4 deletion which removes 3.5Mb of DNA. The partial AZFc deletions b1/b3, b2/b3 and the three variations of the gr/gr deletions [g1/g2], [r1/r3] and [r2/r4] [in dotted box] remove almost half of the AZFc gene content. The shaded block depicts the exact location of the deletion. The information of the map is adapted from published data ([6, 27], and [62])

Fig. 3

Expression of RBMY during human

Fig. 3

Expression of RBMY during human spermatogenesis. Human testicular cells were separated by mild

Expression of RBMY during human spermatogenesis. Human testicular cells were separated by mild collagenase digestion, smeared on slides and fixed in acetone. The cells were probed using an antibody against human RBMY (Santacruz Biotechnology Inc., sc 14,572, USA) and detected using a FITC labeled secondary antibody. The cells were imaged under a fluorescent microscope and different stages were identified based on the cell and nuclear size. Green staining represents RBMY, red is nuclei. Bar represents 20m. For details of the methods see Abid et al. [115]

Fig. 4

World map depicting the prevalence

Fig. 4

World map depicting the prevalence of Yq microdeletions in infertile males in different

World map depicting the prevalence of Yq microdeletions in infertile males in different countries. The prevalence of Yq microdeletions in different countries of the world was estimated from published data of 40,127 Y chromosomes from infertile men. (oligozoospermic or azoospermic men). Only those articles published in English were considered and total number of infertile men studied and those having deletions were recorded along with the country. For each country data from different studies were pooled and the average estimated

Fig. 5

Prevalence of Yq microdeletions in

Fig. 5

Prevalence of Yq microdeletions in infertile men. The average prevalence of the Yq

Prevalence of Yq microdeletions in infertile men. The average prevalence of the Yq microdeletions in different continents of the world was estimated from published data of 40,127 Y chromosomes from infertile men. Infertile men could be oligozoospermic or azoospermic men. Pie chart gives distribution of Yq microdeletions in the Asian region. The numbers were estimated from the data of Asian men based on geographical. In both the cases, only those articles published in English were considered and total number of infertile men studied and those having deletions were recorded along with the country. Data from different studies from same continent were pooled and the average estimated (for details see Additional file 1: Table S1)

Fig. 6

Association of gr/gr and b2/b3

Fig. 6

Association of gr/gr and b2/b3 deletions with male infertility. Data was obtained from

Association of gr/gr and b2/b3 deletions with male infertility. Data was obtained from previous studies [105, 126, 167, 188]. Data for gr/gr is derived out of 10,978 and 6704 Y chromosomes from infertile and fertile men respectively. For b2/b3 the data is derived out of 9981 and 5990 Y chromosomes from fertile and infertile men respectively. Infertile men could be oligozoospermic or azoospermic men. Fertile men would be normozoospermic/proven fertile men with unknown sperm counts. Data was divided based on continents or by race. * indicates value significantly different form fertile counterpart

Zhu Y, Hu L, Cao D, Ou X, Jiang M. Zhu Y, et al. Gene. 2020 Apr 20;735:144389. doi: 10.1016/j.gene.2020.144389. Epub 2020 Jan 23. Gene. 2020. PMID: 31982552

Castro A, Rodrguez F, Flrez M, Lpez P, Curotto B, Martnez D, Maturana A, Lardone MC, Palma C, Mericq V, Ebensperger M, Cassorla F. Castro A, et al. Hum Reprod. 2017 Feb;32(2):465-475. doi: 10.1093/humrep/dew333. Epub 2017 Jan 5. Hum Reprod. 2017. PMID: 28057878

Imken L, El Houate B, Chafik A, Nahili H, Boulouiz R, Abidi O, Chadli E, Louanjli N, Elfath A, Hassar M, McElreavey K, Barakat A, Rouba H. Imken L, et al. Asian J Androl. 2007 Sep;9(5):674-8. doi: 10.1111/j.1745-7262.2007.00290.x. Asian J Androl. 2007. PMID: 17712485

Stouffs K, Vandermaelen D, Tournaye H, Liebaers I, Van Steirteghem A, Lissens W. Stouffs K, et al. Verh K Acad Geneeskd Belg. 2009;71(3):115-39. Verh K Acad Geneeskd Belg. 2009. PMID: 20088251 Review. Dutch.

Liu RZ. Liu RZ. Zhonghua Nan Ke Xue. 2012 Nov;18(11):963-8. Zhonghua Nan Ke Xue. 2012. PMID: 23214242 Review. Chinese.

Subrini J, Turner J. Subrini J, et al. Elife. 2021 Oct 4;10:e67345. doi: 10.7554/eLife.67345. Elife. 2021. PMID: 34606444 Free PMC article.

Wu X, Lin D, Sun F, Cheng CY. Wu X, et al. Adv Exp Med Biol. 2021;1288:161-173. doi: 10.1007/978-3-030-77779-1_8. Adv Exp Med Biol. 2021. PMID: 34453736 Review.

Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, Lv C, Wang R, Ning B, Roberts R, Tong W, Liu Z, Shi T. Zhang L, et al. Genome Med. 2021 Aug 18;13(1):132. doi: 10.1186/s13073-021-00945-4. Genome Med. 2021. PMID: 34407882 Free PMC article.

Joseph S, Mahale SD. Joseph S, et al. Database (Oxford). 2021 Aug 7;2021:baab049. doi: 10.1093/database/baab049. Database (Oxford). 2021. PMID: 34363073 Free PMC article.

Puzuka A, Alksere B, Gailite L, Erenpreiss J. Puzuka A, et al. Life (Basel). 2021 Jun 29;11(7):628. doi: 10.3390/life11070628. Life (Basel). 2021. PMID: 34209597 Free PMC article. Review.

Show all 204 references

The rest is here:
Genetics of the human Y chromosome and its association ...

NEW YORK De novo mutations affecting more than two dozen candidate genes appear to contribute to forms of male infertility caused by very low sperm counts or absence of sperm, according to new research presented this week at the American Society of Human Genetics annual meeting, held virtually this year.

For their study, investigators in the UK, the Netherlands, Australia, Germany, and elsewhere sequenced the exomes of 185 men with unexplained forms of severe oligozoospermia (far lower-than-usual sperm counts) or azoospermia (sperm-free ejaculate), comparing their protein-coding sequences to those of their unaffected parents. They also tapped into data for participants from the International Male Infertility Genomics Consortium.

"Traditionally, male infertility has been investigated under a recessive model of inheritance, but following this method, a large proportion of cases remain unexplained," Miguel Xavier, a postdoctoral research associate at the Newcastle University Biosciences Institute, noted during a poster preview presentation at the conference on Monday.

With that in mind, the team searched for de novo mutations in the infertile male participants that had not been inherited from either unaffected parent, reasoning that infertility and conditions with related symptoms such as Klinefelter syndrome have previously been linked to chromosome-level de novo alterations.

In the process, the investigators flagged 192 rare de novo mutations in the affected men a set that they subsequently whittled down to 29 candidate mutations based on predicted mutation severity and functional effects.

These included 21 missense mutations, four frameshift changes, a handful of in-frame insertions or deletions, and one premature stop mutation, Xavier reported, noting that suspicious de novo mutations were overrepresented in RBM5 and other genes from messenger RNA maturation or splicing pathways that are typically expressed in the testes during sperm production.

"No other genetic abnormalities were found in these patients, which seems to indicate that the de novo mutations are the genetic cause for the infertility of these men," he added, noting that these mutations appear to exert a dominant effect on infertility.

In an abstract accompanying the presentation, he and his co-authors noted that RBM5 mutations were significantly more common in another group of more than 2,500 infertility cases than in a group of nearly 5,800 fertile male controls. The team also saw higher-than-anticipated representation of de novo mutations in genes that are considered loss-of-function intolerant and in genes coding for interaction-heavy proteins.

Xavier cautioned that additional research is needed to tally the potential de novo contributors to infertility in larger participant groups from different populations, and to validate candidate genes uncovered so far. Even so, he said, results so far point to the possibility of identifying infertility culprits, or diagnosing patients, with the help of exome or genome sequencing.

"By expanding our knowledge of the causes of male infertility, we can not only provide a concrete answer to the individuals affected, but also help clinicians to better advise these patients on the best course of action to take in order to conceive," Xavier said in a statement, adding that "we hope that in the near future we are able to identify more genetic causes of infertility and start developing the means to overcome infertility in these patients. But first, we need to better understand the basics of sperm development and the genetic factors that disrupt it."

The team has provided additional details on the work in a paper under review at a scientific journal, and in a BioRxiv preprint out in February.

The study backs up similar results by others. In a pilot study published online in the journal Andrologyin September 2020, an independent team from Slovenia, Macedonia, and Serbia described de novo mutations found by sequencing more than a dozen parent-child trios involving patients with idiopathic azoospermia and another 16 singleton males with the condition.

More here:
De Novo Mutations Linked to Male Infertility in Trio Exome Sequencing Study - GenomeWeb

SEATTLE--(BUSINESS WIRE)--Phase Genomics, Inc., a biotech company leading advancements in next-generation sequencing (NGS) solutions for genome assembly and analysis, today announced the launch of the beta version of its new platform for next generation cytogenomic applications in the reproductive genetics and oncology spaces.

The platform enables rapid, efficient sample processing and does not require culturing of live, dividing cells nor high-molecular-weight DNA extraction. This is a fast and inexpensive platform that is capable of providing tremendous benefit towards answering complex genomic questions that existing methods are unable to fully resolve,'' said Shawn Sullivan, Co-founder and CTO of Phase Genomics. The flexibility of this method allows us to use a low starting volume of cells from fresh and frozen material and, most notably, paraffin-embedded tissue. We can deliver an invaluable compendium of genetic information from a single sample without having to wait for results from multiple tests. With our robust chemistry and the machine learning underpinnings of our analytic technology, our platform offers the potential to complement or replace incumbent technologies like cytogenetics, FISH, and CMA in both solid and liquid cancers and in reproductive health.

While the platform can be broadly applied to constitutional genetics, Phase Genomics sees the immediate utility that it can bring to the prenatal market. According to Sullivan, the platform can help provide answers to the study of patient populations faced with infertility or unexplained repeated pregnancy loss. For example, our platform can detect cryptic rearrangements potentially causing a couples fertility issues, it can uncover novel structural and copy-number changes essential to fetal development in non-viable or paraffin-embedded POC tissue samples and, most importantly, help fuel the translation of these discoveries into clinical tools that will remove emotional, financial and other burdens borne by patients working through these heartbreaking conditions.

Many of the same challenges exist in oncology. Unlocking and maximizing the use of the genetic information contained in unculturable and paraffin-embedded cancer samples is a unique property of the Phase Genomics platform. Phase Genomics Co-founder and CEO Dr. Ivan Liachko stated, The Phase Genomics ultra-long-range sequencing method and machine learning-enabled analytical platform arm clinical researchers, and eventually, healthcare providers, with a cost-effective, high-throughput, sequencing-based method that delivers actionable information. This information provides insights that can be used in the development of new diagnostic and treatment options for cancer and genetic disease, ultimately leading to improved patient care and outcomes.

Todays announcement opens RUO platform access to early beta participants. Phase Genomics is engaged in a number of active partnerships with research and commercial entities and is presenting early results in a poster at the American Society of Human Genetics Conference. The Phase Genomics platform is for research use only and is not for use in diagnostic procedures. More information on the platform is available here.

Join Phase Genomics for a webinar on Tuesday, November 30th to learn more about this technology and follow Phase Genomics on Twitter for the latest news and information.

ABOUT PHASE GENOMICS

Phase Genomics applies Hi-C and other proximity-ligation methods to enable chromosome-scale genome assembly, metagenomic deconvolution, as well as analysis of structural genomic variation and genome architecture. They offer a comprehensive portfolio of laboratory and computational services and products, including Hi-C kits for plants, animals, microbes, and human samples as well as industry-leading genome and metagenome assembly and analysis software.

Based in Seattle, WA, the company was founded in 2015 by a team of genome scientists, software engineers, and entrepreneurs. The companys mission is to empower scientists with genomic tools that accelerate breakthrough discoveries.

Visit link:
Phase Genomics Announces Next Generation Cytogenomics Platform to Advance Precision Diagnosis and Treatment in Reproductive Genetics and Oncology -...

West African migrations. Credit: The graph is made by Saoni Banerji, and the map was downloaded from Wikimedia

Researchers from Estonia and Italy developed an innovative method by combining neural networks and statistics. Using this newly developed method, they refined the Out of Africa scenario. The researchers claimed that the African dynamics around the time of the Out of Africa expansion are more complex than previously thought.

Archaeologists and geneticists agree that all modern humans originated somewhere in Africa around 300 thousand years ago. The population movement that colonized the rest of the globe occurred approximately 60-70 thousand years ago. Both Y-chromosomal data (which follows patrilineal lineage) and the Mitochondrial genome (which follows the matrilineal line) agree on this. However, the exact relationship between the people who left Africa and the human populations currently inhabiting the continent is not fully understood.

A simplistic model would see the first phase of within-Africa population subdivisions, followed by a separation between the ancestors of modern Eurasians and the ancestors of modern East or North-East Africans. New research on this topic, recently published in the American Journal of Human Genetics, argues that the Out of Africa expansion was preceded by a significant population turnover from East to West Africa. This event likely homogenized West and East Africans. This turnover, which may account for up to 90% of the contemporary West African gene pool, increased the affinity between West Africans and Eurasians. This event better explains the lower bound (~60 thousand years ago) inferred from genetic data for the separation time between Africans and non-Africans.

A similar hypothesis was proposed before for the Y chromosome. But this is the first time we demonstrated it for autosomal DNA, said Francesco Montinaro, a Lead author in this study from the University of Bari. Autosomal DNA comes from both parents, instead of Y-chromosome or Mitochondria, which comes only from one of our parents.

It is fascinating to see how our understanding of the human past becomes ever more complex and detailed. Our new model can give us a clue why West Africa shows such a young separation time from the out of Africa populations, said Vasili Pankratov, a lead co-author from the University of Tartu.

Reference: Revisiting the out of Africa event with a deep-learning approach by Francesco Montinaro, Vasili Pankratov, Burak Yelmen, Luca Pagani and Mayukh Mondal, 8 October 2021, American Journal of Human Genetics.DOI: 10.1016/j.ajhg.2021.09.006

See the article here:
Revisiting the Out of Africa Theory: New Narrative From Genetic Analysis and AI - SciTechDaily

By Lee Lawler Oct 15, 2021

Share this article:

Durban - Dr Aisha Pandor needed help around her house one December many years ago but could not find a trustworthy domestic worker quick enough.

Her frustration led the award-winning scientist with a PhD in Human Genetics and business management graduate, to co-found SweepSouth, the countrys first, on-demand cleaning app whichconnects busy people to trusted, background-checked cleaning professionals.

Pandors foray into the on-demand world of a business app came from her inherent curious personality and an enquiring mind that came from growing up in a family of successful and professional people.

Pandor, 36, was a guest speaker on a recent virtual webinar hosted by MANCOSA, a private higher education institution, where she provided students and graduates with practical tools and tips to successfully improve their employability and progress in their chosen career.

Explaining how she came up with the idea for SweepSouth, Pandor said one day during the December holidays some years ago, she was trying to look for a stand-in domestic worker to help out around the house, when she came up with the genius idea.

Pandor drew inspiration from online shopping and food delivery apps and together with her husband, they created the award-winning app.

She wanted to have greater interaction with people,and find out how best to organise domestic work and address the mutual needs of employers.

While studying for my PhD, I always thought about what type of work I would do and whether that work would be aligned with my purpose in life, she said.

The SweepSouth app was launched seven years ago, focusing on changing the mindset of home service professionals.The value of having supportive networks such as a partner, colleagues and family play an important role when having your own business, Pandor said.

She message to students and graduates was: you cannot be taught how to become an entrepreneur, but the skills learnt in courses will provide you with the confidence to become one.

The best learning comes from being able to do things on your own. Having self-confidence and learning to sell yourself by selling your product will be essential for entrepreneurship.

I learnt to become a source of strength and lead people through unforeseen circumstances such as the pandemic.

Entrepreneurship is challenging and there should be no shame in failing as long as you have tried your best and you are aware of the mistakes made and have learnt from them, she said.

Pandor said that success for her is living in the present and trying to make the best out of any day, whilst aligning her purpose in life and being of public service.

She said SweepSouth continues to be a platform that helps combat unemployment and underemployment by helping people find dignified jobs, and contribute to being the voice of women with no voice in public.

IOL

Read more:
Dr Aisha Pandor: How this award winning Human Genetics scientist developed an app to help keep your house clean - IOL

Jomon teeth vs Native American teeth. Credit: G. Richard Scott, University of Nevada Reno

Latest scientific findings suggest the ancestral Native American population does not originate in Japan, as believed by many archaeologists.

A widely accepted theory of Native American origins coming from Japan has been attacked in a new scientific study, which shows that the genetics and skeletal biology simply does not match-up.

The findings, published on October 12, 2021, in the peer-reviewed journal PaleoAmerica, are likely to have a major impact on how we understand Indigenous Americans arrival to the Western Hemisphere.

Based on similarities in stone artifacts, many archaeologists currently believe that Indigenous Americans, or First Peoples, migrated to the Americas from Japan about 15,000 years ago.

It is thought they moved along the northern rim of the Pacific Ocean, which included the Bering Land Bridge, until they reached the northwest coast of North America.

From there the First Peoples fanned out across the interior parts of the continent and farther south, reaching the southern tip of South America within less than two thousand years.

The theory is based, in part, on similarities in stone tools made by the Jomon people (an early inhabitant of Japan, 15,000 years ago), and those found in some of the earliest known archaeological sites inhabited by ancient First Peoples.

But this new study, out today in PaleoAmerica the flagship journal of the Center for the Study of the First Americans at Texas A&M University suggests otherwise.

Carried out by one of the worlds foremost experts in the study of human teeth and a team of Ice-Age human genetics experts, the paper analyzed the biology and genetic coding of teeth samples from multiple continents and looked directly at the Jomon people.

We found that the human biology simply doesnt match up with the archaeological theory, states lead author Professor Richard Scott, a recognized expert in the study of human teeth, who led a team of multidisciplinary researchers.

We do not dispute the idea that ancient Native Americans arrived via the Northwest Pacific coastonly the theory that they originated with the Jomon people in Japan.

These people (the Jomon) who lived in Japan 15,000 years ago are an unlikely source for Indigenous Americans. Neither the skeletal biology nor the genetics indicate a connection between Japan and America. The most likely source of the Native American population appears to be Siberia.

In a career spanning almost half a century, Scott a professor of anthropology at the University of Nevada-Reno has traveled across the globe, collecting an enormous body of information on human teeth worldwide, both ancient and modern. He is the author of numerous scientific papers and several books on the subject.

This latest paper applied multivariate statistical techniques to a large sample of teeth from the Americas, Asia, and the Pacific, showing that quantitative comparison of the teeth reveals little relationship between the Jomon people and Native Americans. In fact, only 7% of the teeth samples were linked to the non-Arctic Native Americans (recognized as the First Peoples).

And, the genetics show the same pattern as the teethlittle relationship between the Jomon people and Native Americans.

This is particularly clear in the distribution of maternal and paternal lineages, which do not overlap between the early Jomon and American populations, states co-author Professor Dennis ORourke, who was joined by fellow human geneticists and expert of the genetics of Indigenous Americans at the University of Kansas, Jennifer Raff.

Plus, recent studies of ancient DNA from Asia reveal that the two peoples split from a common ancestor at a much earlier time, adds Professor ORourke.

Together with their colleague and co-author Justin Tackney, ORourke and Raff reported the first analysis of ancient DNA from Ice-Age human remains in Alaska in 2016.

Other co-authors include specialists in Ice-Age archaeology and ecology.

Shortly before publication of the paper, two other new studies on related topics were released.

A new genetics paper on the modern Japanese population concluded that it represents three separate migrations into Japan, rather than two, as previously believed. It offered more support to the authors conclusions, however, about the lack of a biological relationship between the Jomon people and Indigenous Americans.

And, in late September, archaeologists reported in another paper the startling discovery of ancient footprints in New Mexico dating to 23,000 years ago, described as definitive evidence of people in North America before the Last Glacial Maximumbefore expanding glaciers probably cut off access from the Bering Land Bridge to the Western Hemisphere. It remains unclear who made the footprints and how they are related to living Native Americans, but the new paper provides no evidence that the latter are derived from Japan.

Professor Scott concludes that the Incipient Jomon population represents one of the least likely sources for Native American peoples of any of the non-African populations.

Limitations of the study include that available samples of both teeth and ancient DNA for the Jomon population are less than 10,000 years old, i.e., do not antedate the early Holocene (when the First Peoples are understood to arrive in America).

We assume, the authors explain however, that they are valid proxies for the Incipient Jomon population or the people who made stemmed points in Japan 16,00015,000 years ago.

Reference: Peopling the Americas: Not Out of Japan' by G. Richard Scott, Dennis H. ORourke, Jennifer A. Raff, Justin C. Tackney, Leslea J. Hlusko, Scott A. Elias, Lauriane Bourgeon, Olga Potapova, Elena Pavlova, Vladimir Pitulko and John F. Hoffecker, 12 October 2021, PaleoAmerica.DOI: 10.1080/20555563.2021.1940440

Read the original here:
Genetics and Skeletal Biology Debunks Popular Theory of Native American Origins - SciTechDaily

A widely accepted theory of Native American origins coming from Japan has been attacked in a new scientific study, which shows that the genetics and skeletal biology simply does not match-up.

The findings, published today in the peer-reviewed journal PaleoAmerica, are likely to have a major impact on how we understand Indigenous Americans arrival to the Western Hemisphere.

Based on similarities in stone artifacts, many archaeologists currently believe that Indigenous Americans, or First Peoples, migrated to the Americas from Japan about 15,000 years ago.

It is thought they moved along the northern rim of the Pacific Ocean, which included the Bering Land Bridge, until they reached the northwest coast of North America.

From there the First Peoples fanned out across the interior parts of the continent and farther south, reaching the southern tip of South America within less than two thousand years.

The theory is based, in part, on similarities in stone tools made by the Jomon people (an early inhabitant of Japan, 15,000 years ago), and those found in some of the earliest known archaeological sites inhabited by ancient First Peoples.

But this new study, out today in PaleoAmerica the flagship journal of the Center for the Study of the First Americans at Texas A&M University suggests otherwise.

Carried out by one of the worlds foremost experts in the study of human teeth and a team of Ice-Age human genetics experts, the paper analysed the biology and genetic coding of teeth samples from multiple continents and looked directly at the Jomon people.

We found that the human biology simply doesnt match up with the archaeological theory, states lead author Professor Richard Scott, a recognized expert in the study of human teeth, who led a team of multidisciplinary researchers.

We do not dispute the idea that ancient Native Americans arrived via the Northwest Pacific coastonly the theory that they originated with the Jomon people in Japan.

These people (the Jomon) who lived in Japan 15,000 years ago are an unlikely source for Indigenous Americans. Neither the skeletal biology or the genetics indicate a connection between Japan and the America. The most likely source of the Native American population appears to be Siberia.

In a career spanning almost half a century, Scott a professor of anthropology at the University of Nevada-Reno has traveled across the globe, collecting an enormous body of information on human teeth worldwide, both ancient and modern. He is the author of numerous scientific papers and several books on the subject.

This latest paper applied multivariate statistical techniques to a large sample of teeth from the Americas, Asia, and the Pacific, showing that quantitative comparison of the teeth reveals little relationship between the Jomon people and Native Americans. In fact, only 7% of the teeth samples were linked to the non-Arctic Native Americans (recognized as the First Peoples).

And, the genetics show the same pattern as the teethlittle relationship between the Jomon people and Native Americans.

This is particularly clear in the distribution of maternal and paternal lineages, which do not overlap between the early Jomon and American populations, states co-author Professor Dennis ORourke, who was joined by fellow human geneticists and expert of the genetics of Indigenous Americans at the University of Kansas, Jennifer Raff.

Plus, recent studies of ancient DNA from Asia reveal that the two peoples split from a common ancestor at a much earlier time, adds Professor ORourke.

Together with their colleague and co-author Justin Tackney, ORourke and Raff reported the first analysis of ancient DNA from Ice-Age human remains in Alaska in 2016.

Other co-authors include specialists in Ice-Age archaeology and ecology.

Shortly before publication of the paper, two other new studies on related topics were released.

A new genetics paper on the modern Japanese population concluded that it represents three separate migrations into Japan, rather than two, as previously believed. It offered more support to the authors conclusions, however, about the lack of a biological relationship between the Jomon people and Indigenous Americans.

And, in late September, archaeologists reported in another paper the startling discovery of ancient footprints in New Mexico dating to 23,000 years ago, described as definitive evidence of people in North America before the Last Glacial Maximumbefore expanding glaciers probably cut off access from the Bering Land Bridge to the Western Hemisphere. It remains unclear who made the footprints and how they are related to living Native Americans, but the new paper provides no evidence that the latter are derived from Japan.

Professor Scott concludes that the Incipient Jomon population represents one of the least likely sources for Native American peoples of any of the non-African populations.

Limitations of the study include that available samples of both teeth and ancient DNA for the Jomon population are less than 10,000 years old, i.e., do not antedate the early Holocene (when the First Peoples are understood to arrive in America).

We assume, the authors explain however, that they are valid proxies for the Incipient Jomon population or the people who made stemmed points in Japan 16,00015,000 years ago.

Human tissue samples

Peopling the Americas: Not Out of Japan

13-Oct-2021

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

Go here to read the rest:
Popular theory of Native American origins debunked by genetics and skeletal biology - EurekAlert

iNDICA NEWS BUREAU-

The American Association of Physicians of Indian Origin (AAPI), the largest ethnic medical organization in the United State, recently organized a special event to bring awareness to the rising cases of cardiovascular diseases among the South Asian diaspora.

South Asians make up 25 percent of the worlds population but they contribute 50 percent to global cardiovascular deaths.

The event was conducted virtually on Saturday, October 16, and was presented by two eminent speakers and experts, Dr. Enas Enas and Dr. Amit Kera.

President of AAPI, Dr. Anupama Gotimukula, in her welcome speech, highlighted the growing epidemic heart diseases due to unhealthy lifestyle and called out for the need to create a global awareness.

Today is World Restart a Heart Day. Todays conference is being organized to educate and create awareness about the major health issue faced by South Asians and offer ways to mitigate heart disease, Dr. Gotimukula said.

Dr. Enas came forward to give a deeper insight on the History and Magnitude of Heart Disease Among South Asians.

He pointed out that 185,000 people of South Asian origin die of heart disease per year as against 15,000 Whites die of the same health issue. He specifically noted that Indians have a big problem with premature heart disease.

Dr. Enas, is a reputable cardiologist from Chicago and also Director of CADI Coronary artery disease in Indians

He is the first cardiologist to sound the alarm on the strikingly high rates and malignant nature of heart disease among Indians in the US and around the globe. He is also the first physician to identify and report a genetic predisposition to CAD in Asian Indians, mediated through lipoprotein(a) a genetic variant of LDL cholesterol.

Dr. Amit Kera, a new rising star in Preventive Cardiology, built on that argument and presented genomic data to fill the gap. He is a physician-scientist with expertise in epidemiology, clinical medicine, and human genetics.

Dr. Kera He advocated for the need for our own data base and especially genomic data to go beyond coronary calcium score and use Polygenic score, which can predict even more accurately the risk of heart disease individually what he calls Precision Medicine.

Dr. Brahma Sharma, Senior Faculty at the University of Pittsburgh affiliated Medical Center, a co-host and moderator of the event, said, While we are still trying to figure out different mechanisms for this enigma, that should not prevent but rather motivate to follow more aggressively life style modifications and pre-empt and prevent this silent epidemic that is taking a toll on young Indians and South Asians globally.

Dr. Sharma, serves as the Chair of AAPI South Asian Heart Disease Committee and as the Chair AHA/ AAPI Liaison.

As the adage goes, Prevention is better than cure, said Dr. Gotimukula in her closing remarks. She urged her fellow doctors and contemporaries to raise the awareness to the highest level and create a community that foster healthy lifestyle.

Read more:
AAPI keen on creating awareness on the rising cases of heart disease among South Asians - indica News