Scientists pinpoint a gene regulator that makes human brains bigger

Thursday February 19, 2015 03:37 PM

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By inserting bits of human DNA into mice, scientists were able to make their brains develop more rapidly and ultimately grow bigger in the womb. The study, published Thursday in Current Biology, suggests that the evolution of this gene may be one of the things that sets us apart from our close relatives in the primate world.

Human brains are unique, even when compared with our close genetic relatives, such as chimpanzees. Our brains are about three times heavier than those of our cousins, and are more complex and interconnected as well. It's generally accepted that these neurological differences are what allowed us to evolve the higher brain function that other primates lack. But just what genetic changes allowed humans to surpass chimps in the brain arena is one that's still being answered.

There are a lot of physical differences to examine more closely, but size is such a dramatic one that the authors of the new study chose to start there.

Using databases created by other labs, the Duke University scientists cross-checked areas of human DNA that had developed differences from chimp DNA with areas of DNA they expected to be important for gene regulation. Regulator genes help determine how other genes will express themselves, and the researchers suspected that some of these regulators might be making brain development more active in human embryos than in chimps.

They ended up focusing on a region called HARE5 (short for human-accelerated regulatory enhancer), which testing indicated had something to do with brain development. They suspected that the enhancer, which is found close to a molecular pathway important in brain development, might have changed in a way that influenced brain size in humans.

"We discovered that the human DNA sequence, which only had 16 changes in it compared to the chimp sequence, was being expressed differently in mice," said study author Debra Silver, an assistant professor of molecular genetics and microbiology in the Duke University Medical School.

In fact, HARE5 was regulating how many neural stem cells the precursors of brain cells a mouse embryo could produce.

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Ames company aids in Ebola vaccine candidate

An Ebola vaccine candidate that has been undergoing human trials in the lab now will be used in trial on people in a real world environment with assistance from the Ames-based biopharmaceutical company NewLink Genetics Corporation.

On Thursday, the company announced that with its collaboration with pharmaceutical company Merck, a vaccine for the virus, which has reached epidemic status in parts of Africa and popped up in other parts of the world, will soon begin clinical trials in Liberia.

The control group will be comprised of 27,000 patients and there are plans to do trials in other countries.

We are cautiously optimistic that the trials will lead to data that says the vaccine works, said Charles Link, CEO of NewLink Genetics.

There is no timeline for results, and Link said the trials will take several months.

The company will also receive $20 million in connection with the achievement. The company received $30 million when it first reached a license agreement with Merk in 2014.

Merck obtained an exclusive license to research, develop, manufacture and distribute the Ebola vaccine candidate as well as any follow-on products

Other partners in this collaboration project include the government of Canada, the U.S. Department of Health and Human Services, the U.S. Department of Defense and the World Health Organization.

NewLink, which is located in the Iowa State University Research Park, began work with an Ebola vaccine in 2010 when it acquired the vaccine candidate from Public Health Agency of Canada, which developed it.

At that point, it was for animal experiments and not for humans, Link said. The laboratory work and research to get to the current point was accelerated because of the outbreak in West Africa.

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Evolving a Bigger Brain With Human DNA

Durham, NC - The size of the human brain expanded dramatically during the course of evolution, imparting us with unique capabilities to use abstract language and do complex math. But how did the human brain get larger than that of our closest living relative, the chimpanzee, if almost all of our genes are the same?

Duke scientists have shown that its possible to pick out key changes in the genetic code between chimpanzees and humans and then visualize their respective contributions to early brain development by using mouse embryos.

The team found that humans are equipped with tiny differences in a particular regulator of gene activity, dubbed HARE5, that when introduced into a mouse embryo, led to a 12% bigger brain than in the embryos treated with the HARE5 sequence from chimpanzees.

The findings, appearing online Feb. 19, 2015, in Current Biology, may lend insight into not only what makes the human brain special but also why people get some diseases, such as autism and Alzheimers disease, whereas chimpanzees dont. I think weve just scratched the surface, in terms of what we can gain from this sort of study, said Debra Silver, an assistant professor of molecular genetics and microbiology in the Duke University Medical School. There are some other really compelling candidates that we found that may also lead us to a better understanding of the uniqueness of the human brain.

Every genome contains many thousands of short bits of DNA called enhancers, whose role is to control the activity of genes. Some of these are unique to humans. Some are active in specific tissues. But none of the human-specific enhancers previously had been shown to influence brain anatomy directly.

In the new study, researchers mined databases of genomic data from humans and chimpanzees, to find enhancers expressed primarily in the brain tissue and early in development. They prioritized enhancers that differed markedly between the two species.

The groups initial screen turned up 106 candidates, six of them near genes that are believed to be involved in brain development. The group named these human-accelerated regulatory enhancers, HARE1 through HARE6.

The strongest candidate was HARE5 for its chromosomal location near a gene called Frizzled 8, which is part of a well-known molecular pathway implicated in brain development and disease. The group decided to focus on HARE5 and then showed that it was likely to be an enhancer for Frizzled8 because the two DNA sequences made physical contact in brain tissue.

The human HARE5 and the chimpanzee HARE5 sequences differ by only 16 letters in their genetic code. Yet, in mouse embryos the researchers found that the human enhancer was active earlier in development and more active in general than the chimpanzee enhancer.

Whats really exciting about this was that the activity differences were detected at a critical time in brain development: when neural progenitor cells are proliferating and expanding in number, just prior to producing neurons, Silver said.

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Evolving a Bigger Brain With Human DNA

Scientists unveil 'epigenome roadmap' genetic code

Code interacts with human genome to tell DNA what to do

(ANSA) - Rome, February 18 - The most comprehensive information so far into the human epigenome - chemical compounds that modify or mark human DNA to give it instructions about how to perform - was released to the public on Wednesday in a free online database and in 24 articles published by the Nature group of scientific magazines. The research is a product of the Roadmap Epigenomics Program, an 2008 initiative funded by the U.S. government at a cost of 240 million dollars, planned to last 10 years. This release of information about the human epigenome is being hailed as the most important discovery into human genetics since the 2001 publishing of the first draft of the human genome, the chemical sequences that make up DNA. Researchers hope epigenomic information will help cure and prevent diseases like diabetes, hypertension, arthritis and Alzheimer's by decoding how the epigenome operates on human DNA.

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Scientists unveil 'epigenome roadmap' genetic code

Scientists Unveil Map of Human Epigenomes in Effort to Fight Disease

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Newswise Virtually every cell in the body carries an identical genome. But how is it possible that each of the bodys 200 different types of specialized cells in the heart, brain, bone, skin and elsewhere develops from the same DNA instruction book?

As it turns out, reading that instruction book and carrying out its directives are controlled by chemical markers that attach to DNA to activate or silence genes. These chemical markers, known as the epigenome, vary vastly from one cell type to another and, when disrupted, can play a role in the onset of many diseases, from cancer and Alzheimers disease to diabetes and autism. Probing the epigenome could improve scientists understanding of the molecular basis of disease and lead to new treatments.

Now, for the first time, researchers have assembled a comprehensive map of the human epigenome. The mapping, by scientists at Washington University School of Medicine in St. Louis and other institutions, includes detailed descriptions of the epigenetic markers in 111 types of cells and tissues. Partial epigenome mapping is available for many other cell types, and new information will be added as it becomes available.

The research is published Feb. 18 in the journal Nature. More than 20 additional papers, including three by scientists at the School of Medicine, appear simultaneously in other Nature journals to show how epigenetic maps can be used to study human biology.

Weve only scratched the surface of the human epigenome, but this massive resource marks the beginning of an era, said a principal investigator of the epigenome mapping project, Ting Wang, PhD, assistant professor of genetics. We can now begin to describe humans in molecular detail.

We also can look closely at the epigenetic differences between cell types. We dont yet understand what those differences mean or what epigenetic changes drive cell specialization or the initiation of disease. But thats where were headed. This resource opens up many new doors in biology and the biomedical sciences.

The epigenome also lies at the intersection of the genome and the environment. People have little control over their DNA, but epigenomes are dynamic and potentially can be altered by changes in lifestyle, such as diet and exercise, or by pharmaceuticals. That makes the epigenome a critical player in health and disease.

The mapping initiative, referred to as the Roadmap Epigenomics Program, is funded by the National Institutes of Health (NIH) Common Fund.

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Scientists Unveil Map of Human Epigenomes in Effort to Fight Disease

Most Comprehensive Map of Human Epigenomes Is Unveiled

Two dozen scientific papers published online simultaneously on Feb. 18, 2015 present the first comprehensive maps and analyses of the epigenomes of a wide array of human cell and tissue types. Epigenomes are patterns of chemical annotations to the genome that determine whether, how, and when genes are activated.

Because epigenomes orchestrate normal development of the body, and disruptions in epigenetic control are known to be involved in a wide range of disorders from cancer to autism to heart disease, the massive trove of data is expected to yield many new insights into human biology in both health and disease.

The 24 papers describing human epigenomes will appear in print on Feb. 19, 2015 in the journal Nature and in six other journals under the aegis of Nature Publishing Group. Collectively, the papers are a culmination of years of research by hundreds of participants in the Roadmap Epigenomics Program (REP), first proposed in 2006 by academic scientists and key members of the National Institutes of Health. All will be freely available at Natures Epigenome Roadmap website.

The DNA sequence of the human genome is identical in all cells of the body, but cell typessuch as heart, brain or skin cellshave unique characteristics and are uniquely susceptible to various diseases, said UC San Franciscos Joseph F. Costello, PhD, director of one of four NIH Roadmap Epigenome Mapping Centers (REMC) that contributed data to the REP. By guiding how genes are expressed, epigenomes allow cells carrying the same DNA to differentiate into the more than 200 types found in the human body.

In cancer research, said Costello, the new data will hasten a merging of genomic and epigenomic perspectives that was already underway. Youve had cancer researchers studying the genomethe role of mutations, deletions, and so onand others studying epigenomes. They've almost been working on parallel tracks, and they didnt talk to each other all that much. Over the past five or six years, theres been a reframing of the discussion, because the most recurrent mutations in cancer affect epigenomic regulators. So the way mutations in the genome play out is through epigenomic mechanisms, and major pharmaceutical companies now view epigenomes as an important target.

Costello holds the Karen Osney Brownstein Endowed Chair in Neuro-Oncology in the UCSF Department of Neurological Surgery, and is a member of the UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC).

The overarching findings of the REP, which include data on 111 distinct human epigenomes from all four REMCs as well as from dozens of individual labs around the world, are covered in a Nature paper for which Manolis Kellis, PhD, of Massachusetts Institute of Technology (MIT) and the Broad Institute of MIT and Harvard, is senior author. In addition to the many implications for normal human biology of the most comprehensive map of the human epigenomic landscape so far, the authors write, our data sets will be valuable in the study of human disease, as several companion papers explore in the context of autoimmune disease, Alzheimers disease, and cancer.

DNA molecules are long, thin double strands containing genes, the discrete units of information that serve as recipes for the protein-making machinery of the cell. In order for DNA molecules to fit into the small space of the cell nucleus, they are compressed and packed like cooked spaghetti, and also wound around spool-like structures called histones. Chemical epigenetic marksthe addition of methyl groups in or near genes, and modifications to histonesdetermine whether genes are available to be transcribed and translated into proteins. Though epigenetic marks are stable, they are reversible, and they can also be altered by environmental factors such as diet, exposure to toxins, and aging. Such changes affect gene expression, which can lead to disease.

The REMC directed by UCSFs Costello included researchers from UCSF; the University of California, Santa Cruz (UCSC); the University of Southern California (USC), Washington University in St. Louis (WUSTL); and Canadas Michael Smith Genome Sciences Centre and the University of British Columbia (UBC), in Vancouver, Canada. The group provided important data to the REP on several cell types, including epigenomes of the normal human placenta, sperm, breast cells, blood cells, fetal and adult brain cells, and skin cells. Misha Bilenki, PhD, a member of Costellos REMC with an appointment at Canadas Michael Smith Genome Sciences Centre, is co-first author of the Nature paper of which Kellis, of MIT and Harvard, is senior author.

A unique contribution of Costellos REMC was the creation, by WUSTLs Ting Wang, PhD, and David Haussler, PhD, and Jim Kent of UCSC, of the Roadmap Epigenome Browser, a web-based tool that gives scientists worldwide open access to the complete data from the REP.

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Pubic Microbes Finger Sex Offenders

Bacteria found in pubic hair could be used to trace a persons involvement in sexual assault cases, according to a study published in Investigative Genetics.

Hairs are one of the most common types of trace evidence collected during forensic investigations, but the majority of those recovered from crime scenes contain insufficient amounts of human genetic material to carry out DNA profiling of suspects.

Not only did the study report that bacteria associated with pubic hair can distinguish between males, females and individual people, but it found that an individuals pubic hair microbiota are transferred during intercourse, indicating its potential for forensic analysis in sexual assault cases.

The transfer of bacteria between victim and offender, in rape cases, may provide a new way of linking the offender to the victim in instances in which no human DNA is transferred, said lead author Ms Silvana Tridico of Murdoch University.

The small study collected pubic and scalp hair from seven individuals, two of whom were a cohabiting couple. Scalp hair showed fewer distinct varieties of microbe and appeared to be more influenced by common environmental microbes. In contrast, each individuals pubic hair harboured distinct communities of microbe.

While the microbial communities on pubic hair generally remained individually distinct and consistent over the course of the study, after 5 months the cohabiting couples microbiota were more similar to each other than previously.

Interviews revealed that the couple had sexual intercourse 18 hours prior to the collection of their pubic hairs. This suggests that an exchange of microbes had occurred, which the researchers say bodes well for future forensic applications involving sexual crimes.

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Human genome – Wikipedia, the free encyclopedia

The human genome is the complete set of genetic information for humans (Homo sapiens sapiens). This information is encoded as DNA sequences within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes (contained in egg and sperm cells) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. While there are significant differences among the genomes of human individuals (on the order of 0.1%)[citation needed], these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%[1]) and bonobos.

The Human Genome Project produced the first complete sequences of individual human genomes. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data are used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.

Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance.

There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further,[2][3]Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been elucidated.[4]

The total length of the human genome is over 3 billion base pairs. The genome is organized into 22 paired chromosomes, the X chromosome (one in males, two in females) and, in males only, one Y chromosome, all being large linear DNA molecules contained within the cell nucleus. It also includes the mitochondrial DNA, a comparatively small circular molecule present in each mitochondrion. Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table. (Data source: Ensembl genome browser release 68, July 2012)

Table 1 (above) summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute. Chromosome lengths were estimated by multiplying the number of base pairs by 0.34 nanometers, the distance between base pairs in the DNA double helix. The number of proteins is based on the number of initial precursor mRNA transcripts, and does not include products of alternative pre-mRNA splicing, or modifications to protein structure that occur after translation.

The number of variations is a summary of unique DNA sequence changes that have been identified within the sequences analyzed by Ensembl as of July, 2012; that number is expected to increase as further personal genomes are sequenced and examined. In addition to the gene content shown in this table, a large number of non-expressed functional sequences have been identified throughout the human genome (see below). Links open windows to the reference chromosome sequence in the EBI genome browser. The table also describes prevalence of genes encoding structural RNAs in the genome.

MiRNA, or MicroRNA, functions as a post-transcriptional regulator of gene expression. Ribosomal RNA, or rRNA, makes up the RNA portion of the ribosome and is critical in the synthesis of proteins. Small nuclear RNA, or snRNA, is found in the nucleus of the cell. Its primary function is in the processing of pre-mRNA molecules and also in the regulation of transcription factors. SnoRNA, or Small nucleolar RNA, primarily functions in guiding chemical modifications to other RNA molecules.

Although the human genome has been completely sequenced for all practical purposes, there are still hundreds of gaps in the sequence. A recent study noted more than 160 euchromatic gaps of which 50 gaps were closed.[5] However, there are still numerous gaps in the heterochromatic parts of the genome which is much harder to sequence due to numerous repeats and other intractable sequence features.

The content of the human genome is commonly divided into coding and noncoding DNA sequences. Coding DNA is defined as those sequences that can be transcribed into mRNA and translated into proteins during the human life cycle; these sequences occupy only a small fraction of the genome (<2%). Noncoding DNA is made up of all of those sequences (ca. 98% of the genome) that are not used to encode proteins.

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R2d2 Beats Mendel: Scientists Discover Selfish Gene That Breaks Long-Held Law of Genetic Inheritance

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Newswise CHAPEL HILL, NC The force is strong with this one. UNC School of Medicine researchers discovered a gene called R2d2 Responder to meiotic drive 2 that breaks Gregor Mendels century-old law of segregation, which states that you have an equal probability of inheriting each of two copies of every gene from both parents.

For years, scientists had evidence that this law was being broken in mammals, but they didnt know how. Now theyve implicated R2d2, a so-called selfish gene. Led by UNC School of Medicine scientists, researchers from across the country used data from thousands of genetically diverse mice to show that female mice pass on one copy of the R2d2 gene more frequently than the other copy.

The discovery, published in PLoS Genetics, has wide ranging implications. For instance, when doctors calculate the probability of a person inheriting the genes responsible for a disease, the calculations are based on Mendels law. Findings from the fields of evolutionary genetics and population genetics are also based on Mendels law. And the discovery could have implications for the fields of biomedical science, infectious diseases, and even agriculture.

R2d2 is a good example of a poorly understood phenomenon known as female meiotic drive when an egg is produced and a selfish gene is segregated to the egg more than half the time, said Fernando Pardo-Manuel de Villena, PhD, professor of genetics and senior author of the paper. One notable but poorly understood example of this in humans involves the transmission fused chromosomes that can contribute to trisomies when three chromosomes are passed on to offspring instead of two.

Trisomies are associated with miscarriages or can lead to developmental disorders, including Down, Edwards, and Patau syndromes.

Understanding how meiotic drive works may shed light on the meiotic abnormalities underlying these disorders, Pardo-Manuel de Villena said. Now, we finally have an easily controlled and manageable system so we can study meiotic drive.

The researchers, including John Didion, PhD, a postdoctoral fellow at the NIH, former UNC graduate student, and first author of the paper, first discovered R2d2 while developing the Collaborative Cross (CC) and Diversity Outbred (DO) two related populations of laboratory mice that were derived by mixing eight genetically-diverse inbred lines. They examined genotype data from hundreds of CC lines and thousands of DO mice and found that in every place in the genome save one, each of the eight parent lines made equal contributions to the population. The one exception occurred in the middle of mouse chromosome 2.

Using whole-genome sequences from the parent lines, the scientists found that R2d2 was responsible for the gain of many copies of a gene sequence present in all females with meiotic drive. Deletion of most of the R2d2 gene copies restored the expected pattern of inheritance. This provided solid evidence that the R2d2 gene was indeed the cause of the unusual mutation found on chromosome 2.

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R2d2 Beats Mendel: Scientists Discover Selfish Gene That Breaks Long-Held Law of Genetic Inheritance

2011 Houston Heat Wave Led to Significant Rise in Emergency Department Visits

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Newswise HOUSTON (Feb. 10, 2015) Houston experienced its hottest summer on record in 2011, resulting in 278 excess emergency department visits per day during the August heat wave, according to research from The University of Texas Health Science Center at Houston (UTHealth) published recently in Environmental Health.

The 2011 heat wave led to significantly more emergency department visits than would be typical of that period; however, mortality rates did not change much, said Kai Zhang, Ph.D., assistant professor in the Department of Epidemiology, Human Genetics & Environmental Sciences at UTHealth School of Public Health.

For 30 out of 31 days in August, temperatures exceeded 100 degrees in Houston. Emergency department admissions among those ages 65 and older rose by 8.9 percent during the heat wave. Studies have shown that the elderly are especially affected by excess heat.

Previous research has established that heat waves in California and Chicago led to high mortality rates and emergency department visits, especially in Chicago where a heat wave caused 692 fatalities.

It could be that the mortality rate did not change much in Houston because 98 percent of residents had air conditioning and were acclimated to the hot weather. In Chicago, only 76 percent of residents had air conditioning, which may have been a factor for the number of heat wave-related deaths there, said Zhang.

A health-based heat warning system may help prevent emergency department admissions in the future in Houston, Zhang says. According to the National Weather Service Houston/Galveston office, the criteria used for heat advisories is having two consecutive days with a heat index at 108 degrees or higher, either forecast or observed. Heat index is a combination of temperature and relative humidity.

These findings could provide insights for local government agencies and communities to design better preparation to reduce adverse health effects of future heat waves, said Charles Begley, Ph.D., co-author of the study and professor in the Department of Management, Policy & Community Health at UTHealth School of Public Health.

The research was funded by UTHealth School of Public Health. Co-authors include Tsun-Hsuan Chen, Ph.D., graduate assistant in the Department of Epidemiology, Human Genetics & Environmental Sciences.

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Human – Wikipedia, the free encyclopedia

Human[1] Temporal range: 0.1950Ma Middle Pleistocene Recent Adult human male (left) and female (right) from Southeast Asia Conservation status Scientific classification Kingdom: Animalia Phylum: Chordata Class: Mammalia Order: Primates Family: Hominidae Tribe: Hominini Genus: Homo Species: H. sapiens Binomial name Homo sapiens Linnaeus, 1758 Subspecies

Homo sapiens idaltu White et al., 2003 Homo sapiens sapiens

Modern humans (Homo sapiens or Homo sapiens sapiens) are the only extant members of the hominin clade, a branch of great apes characterized by erect posture and bipedal locomotion; manual dexterity and increased tool use; and a general trend toward larger, more complex brains and societies.[3][4] Early hominids, such as the australopithecines whose brains and anatomy are in many ways more similar to non-human apes, are less often thought of or referred to as "human" than hominids of the genus Homo,[5] some of whom used fire, occupied much of Eurasia, and gave rise to [6][7]anatomically modern Homo sapiens in Africa about 200,000 years ago where they began to exhibit evidence of behavioral modernity around 50,000 years ago and migrated out in successive waves to occupy[8] all but the smallest, driest, and coldest lands. In the last 100 years, this has extended to permanently manned bases in Antarctica, on offshore platforms, and orbiting the Earth. The spread of humans and their large and increasing population has had a destructive impact on large areas of the environment and millions of native species worldwide. Advantages that explain this evolutionary success include a relatively larger brain with a particularly well-developed neocortex, prefrontal cortex and temporal lobes, which enable high levels of abstract reasoning, language, problem solving, sociality, and culture through social learning. Humans use tools to a much higher degree than any other animal, are the only extant species known to build fires and cook their food, as well as the only extant species to clothe themselves and create and use numerous other technologies and arts.

Humans are uniquely adept at utilizing systems of symbolic communication such as language and art for self-expression, the exchange of ideas, and organization. Humans create complex social structures composed of many cooperating and competing groups, from families and kinship networks to states. Social interactions between humans have established an extremely wide variety of values,[9]social norms, and rituals, which together form the basis of human society. The human desire to understand and influence their environment, and explain and manipulate phenomena, has been the foundation for the development of science, philosophy, mythology, and religion. The scientific study of humans is the discipline of anthropology.

Humans began to practice sedentary agriculture about 12,000 years ago, domesticating plants and animals, thus allowing for the growth of civilization. Humans subsequently established various forms of government, religion, and culture around the world, unifying people within a region and leading to the development of states and empires. The rapid advancement of scientific and medical understanding in the 19th and 20th centuries led to the development of fuel-driven technologies and improved health, causing the human population to rise exponentially. By 2014 the global human population was estimated to be around 7.2 billion.[10][11]

In common usage, the word "human" generally refers to the only extant species of the genus Homo anatomically and behaviorally modern Homo sapiens. Its usage often designates differences between the species as a whole and any other nature or entity.

In scientific terms, the definition of "human" has changed with the discovery and study of the fossil ancestors of modern humans. The previously clear boundary between human and ape blurred, resulting in "Homo" referring to "human" now encompassing multiple species. There is also a distinction between anatomically modern humans and Archaic Homo sapiens, the earliest fossil members of the species, which are classified as a subspecies of Homo sapiens, e.g. Homo sapiens neanderthalensis.

The English adjective human is a Middle English loanword from Old French humain, ultimately from Latin hmnus, the adjective form of hom "man". The word's use as a noun (with a plural: humans) dates to the 16th century.[12] The native English term man can refer to the species generally (a synonym for humanity), and could formerly refer to specific individuals of either sex, though this latter use is now obsolete.[13] Generic uses of the term "man" are declining, in favor of reserving it for referring specifically to adult males. The word is from Proto-Germanic mannaz, from a Proto-Indo-European (PIE) root man-.

The species binomial Homo sapiens was coined by Carl Linnaeus in his 18th century work Systema Naturae, and he himself is the lectotype specimen.[14] The generic name Homo is a learned 18th century derivation from Latin hom "man", ultimately "earthly being" (Old Latin hem, a cognate to Old English guma "man", from PIE demon-, meaning "earth" or "ground").[15] The species-name sapiens means "wise" or "sapient". Note that the Latin word homo refers to humans of either gender, and that sapiens is the singular form (while there is no word sapien).

The genus Homo diverged from other hominins in Africa, after the human clade split from the chimpanzee lineage of the hominids (great ape) branch of the primates. Modern humans, defined as the species Homo sapiens or specifically to the single extant subspecies Homo sapiens sapiens, proceeded to colonize all the continents and larger islands, arriving in Eurasia 125,00060,000 years ago,[16][17]Australia around 40,000 years ago, the Americas around 15,000 years ago, and remote islands such as Hawaii, Easter Island, Madagascar, and New Zealand between the years 300 and 1280.[18][19]

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Human - Wikipedia, the free encyclopedia

Lawmakers approve technique to allow three people make babies

Despite warnings that a new ethical threshold was being crossed, British lawmakers on Tuesday voted to allow the in vitro creation of babies using the DNA of three people, a procedure that could prevent the inheritance of genetic diseases.

According to nytimes.com, the move would make Britain the first country to authorize an in vitro fertilization technique that involves altering a human egg or embryo before transferring it to the womb.

The issue provoked fierce debate, with some opponents likening the procedure to genetic modification and arguing that it would open the way to the creation of so-called designer babies.

Lawmakers in the House of Commons voted 382 to 128 in favor of the move, which still requires final approval from the House of Lords, the unelected upper chamber of Parliament. The House of Lords rarely rejects the decisions of its elected colleagues.

The vote came after a number of objections were raised, including the fact that other nations, including the United States, have not taken such a step.

Describing the move as bold but considered and informed, the health minister, Jane Ellison, argued in favor of legalizing the procedure, which is designed to help women with mitochondrial diseases. Defects in the mitochondria energy-producing structures outside a cells nucleus can result in a range of complications, including muscular dystrophy and heart, kidney and liver failure. An opponent of the change, Edward Leigh, a Conservative lawmaker and former minister, said before the vote that it was a monumental decision.

If we believe that, sadly, given the nature of the human condition, there are these appalling diseases, where do we stop? he asked, calling for full clinical trials to determine the procedures safety and effectiveness.

We will be the first state to authorize this in the world, Mr. Leigh added. We will be in a unique position, and we should ask ourselves why no other state not the European Union, not the U.S., yet thinks this process is absolutely safe.

If it wins final approval, as seems likely, the technique is expected to be used only sparingly, and in the cases of women who have faulty mitochondria. The resulting embryo would have nucleus DNA from the childs parents but mitochondrial DNA from a donor.

Scientists say that the child would inherit the characteristics of the parent, other than the mitochondrial defect, rather than those of the donor.

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Lawmakers approve technique to allow three people make babies

Britain's parliament allows human genome manipulation for first time

"Life expectancy for a child with mitochondria is very short, very short. And I think that's devastating for a woman"

Mothers day may be about to get more complicated in the UK after parliament voted to allow a three-parent IVF technique.

It is designed to eliminate the possibility of mitochondrial diseases being transmitted to children. As these come through mothers only, the technique removes faulty DNA, replacing it with healthy material from a female donor.

This will be the first time that we would intentionally manipulate the human genome. It is something that governments around the world have agreed for the last 20 years that we shouldnt do, and once you cross that line, then its very hard to stop going down the slippery slope to designer babies, says the Director of Human Genetics Alert Dr. David King.

Advocates say it would be cruel to continue to allow the incurable disease to occur which affects around one in every 6500 births, and 11 international campaign groups are supporting the British government to take the unprecedented step.

When you have a baby, and find out that your babys ill or got something that youve got, and life expectancy for a child with mitochondria is very short, very short. And I think thats devastating for a woman, says Olivia Seaby, who carries the defective DNA.

Few would dispute man is playing God in this case, but a kindly and benevolent one. The danger, say some, is once the precedent is set, characteristics some maintain add variety and richness to the human experience will be airbrushed away.

Mr Robert Meadowcroft, chief executive of the Muscular Dystrophy Campaign in the UK

We support this research because it will lead to effective treatment for devastating mitochondrial disorders. In the UK there is a very tight regulatory and licensing regime, so fears of a slippery slope are misplaced.

A vote in favour of regulations is important because these conditions can lead to severe disability and early death for children.

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Britain's parliament allows human genome manipulation for first time

The Scientist: Professor Amy Williams Maps Genes, Tracks Risk of Disease

By SHIRA POLAN

Prof. Amy Williams, computational biology, is most likely not your relative, at least within the last 10 generations. But the newly instated Cornell professor spends much of her time studying your family tree or rather, the genetic tree of all modern humans in order to better understand the complex history of human demographics.

Williams, a graduate of the University of Utah, first became interested in population genetics and parent-to-child genetic transmission during her Ph.D. work at the Massachusetts Institute of Technology.

I went to grad school expecting to do very traditional computer science but ended up taking a genetics class for my minor [and] really just fell in love with it, she said. For my Ph.D., I ended up developing an algorithm for inferring the way in which DNA gets transmitted from parents to children in single families. I then got a postdoc in a human population genetics lab and have continued to fall in love with the discipline.

Following graduate school, Williams pursued postdoctoral positions at Harvard Medical School and Columbia University before beginning research as an assistant professor in the Department of Computational Biology and Population Genetics last April.

Next fall, Williams will teach a course that will serve as an introduction to computational biology.

[The class] will likely be aimed at individuals who have a little bit of computational background. Well talk about the ways of analyzing genetic data and will begin by asking, What is the human genome? she said. This is something you can download off the Internet and read off all those letters, but how was it actually generated?

Williams said she considers her field of computational biology to be very broad, referring to the many applications computers have in the realm of biology.

Its anything from trying to predict how a protein will fold using computers, to trying to infer relationships between individuals on the basis of their genetic makeup, to comparing the genetic makeup of different species in order to learn about evolution, to methodologies for performing genome-wide association studies that attempt to identify genetic variants that affect a given trait or disease, she said.

One specific application of Williams work is the characterization of haplotypes, a series of genes that occur on a single chromosome and are likely to be inherited together.

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The Scientist: Professor Amy Williams Maps Genes, Tracks Risk of Disease

Feeling Woozy? 23AndMe Releases First-Ever Genome-Wide Study Of Motion Sickness

Consumer genetics firm 23AndMe has issued the first ever genome-wide association study of motion sickness. After the rocky legal back-and-forth between 23AndMe and the FDA that prevents the genetics company from extensively analyzing customer genetics, this studys results are a solid win, and vindicate 23AndMes goals of using its vast bank of genetics data benevolently.

The study, published in Oxford Journals Human Molecular Genetics, is the first to reveal the genetic variants of motion sickness and involved 80,000 consenting customers who had submitted material to 23AndMe to be genetically analyzed.

The study found 35 genetic factors associated with motion sickness that statistically stand out at genome-wide scalein other words, significant when compared among the whole human genome instead of just looking at particular genes. Many of these factors are in or near genes involved in balance and eye, ear, and cranial developmentmeaning motion sickness likely triggers effects in these areas. They even found that several of these factors had the potential to hit women harder, potentially tripling motion sickness' effect on those systems.

Given that roughly one in three people are affected by motion sickness, the study is obviously valuableand given the highly hereditary nature of motion sickness effects, mapping genetic effects of motion sickness is a perfect fit for 23AndMe. Results from a 2006 study have estimated that up to 70% of variation in risk for motion sickness is due to genetics.

The study also confirmed what wed already knownthat people suffering motion sickness are more prone to migraines, vertigo, and morning sickness. Overall, the results pointed toward the importance of the nervous system in motion sickness and a possible role for glucose levels in motion-induced nausea and vomiting.

While the FDA is preventing 23AndMe from giving U.S. customers analyses of their genetic data, 23AndMe is still selling genetics-gathering kits (sending the customers back ancestry reports instead of a report analyzing their genetic predisposition to disease) and then selling that data to pharmaceutical giants and academic labs. That sounds like just the data profiteering that Facebook has come under fire for, but the results of the motion sickness study back up 23AndMes claims that it can participate in illuminating research and make money doing it. To date, 23AndMe and its partners have published or contributed to 22 peer-reviewed papers about breast cancer, asthma, hyperthyroidism, and other genetically affected conditions.

23AndMe customers willingness to share data has sped up research speed by magnitudesa true crowdsourcing of genetic data.

"Researchers came to 23andMe to learn whether or not a certain gene was more prevalent in cancer patients," VP of Communications at 23AndMe Angela Calman-Wonson tells Fast Company. "23andMe sent surveys to individuals in our database with that particular gene, asking several cancer-related questions. We received more than 10,000 responses in 12 hours, and were able to determine that the gene was not prevalent among cancer patients. This type of research typically takes months and thousands of dollars, and in this case it took about 48 hours."

[via EurekaAlert ]

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Feeling Woozy? 23AndMe Releases First-Ever Genome-Wide Study Of Motion Sickness