Category Archives: Transhuman News

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Stream of surprises from the Atlantic cod genome Science Daily The Atlantic cod genome consists of approximately 700 million pairs of DNA bases (remember that the DNA molecule is a double helix with matching base pairs on each strand). With the recent study, the researchers have now surveyed a total of 93 per cent ...

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Stream of surprises from the Atlantic cod genome - Science Daily

March 7, 2017 The evolution of globin gene domain 3-D organization exhibits a tendency to the formation of globular structures. Embryonic and adult globin genes are designated with light grey and dark grey circles, respectively. The major regulatory element (MRE) of the Danio rerio major globin gene locus and -globin gene domains of warm-blooded vertebrates is designated with red hexagon. The locus control region (LCR) of the -globin gene domains of warm-blooded vertebrates is designated with a set of red rectangles. Experimentally validated insulators and putative ones are designated with dark blue ellipses and light blue ellipses, respectively. The spatial configuration of the mouse -globin gene domain and the interaction frequency between the insulators in the chicken -globin gene domain in embryonic erythroid cells before globin expression switching are currently unknown. Credit: Razin lab

It seems like a feat of magic. Human DNA, if stretched out into one, long spaghetti-like strand, would measure 2 meters (six feet) long. And yet, all of our DNA is compacted more than 10,000 times to fit inside a single cell. How is this accomplished while preserving the overall, vital genomic organization?

With new techniques, scientists are beginning to understand the principles of 3-D genome folding. And in one of the studies of its kind, Anastasia Kovina, Sergey Razin a et al. have examined the well-studied globin gene cluster to understand the evolution of genome folding behind a vital process, delivering oxygen throughout the body.

Their study sheds light on the genomic evolutionary process that resulted in segregation of the alpha and beta-globin genes into two differently regulated domains in warm-blooded vertebrates. "We suggest that globin gene domains of some modern, cold-blooded animals retain certain features of an ancient, ancestral domain," said corresponding author Sergey Razin.

By investigating globin genes in the zebrafish model organism, their evidence points toward their suggestion that modern clusters of - and -globin genes of warm-blooded animals evolved from an ancestral locus, contained within a globular genomic cluster that was located close to other evolutionary conserved genes.

They found that evidence of a dynamic genomic organization of globin gene cluster that differs depending on the developmental age of the zebrafish. Using different assays, they have shown that the adult globin sub-compartment of the zebrafish gene locus is insulated from the embryonic larval component.

"We have found that the major globin gene locus of zebrafish (Danio rerio) is structurally and functionally segregated into two spatially distinct subloci harboring either adult or embryo-larval globin genes," said Razin. "These subloci demonstrate different organization at the level of chromatin domains and different modes of spatial organization, which appears to be due to selective interaction of the upstream gene enhancer with the sublocus harboring globin genes of the adult type."

This organization drastically differs from that of the mammalian - and -globin gene domains, where both embryo-fetal and adult globin genes are recruited to the same regulatory elements in a developmental and stage-specific process.

The finding of a functional separation of adult and embryo globin genes reflected in the 3-D genomic organization chromatin will provide an important contribution to the field and interesting evolutionary perspective to how gene clusters are organized and expressed.

Explore further: Researchers find potential treatments for hemoglobinopathies

More information: Evolution of the genome 3D organization: comparison of fused and segregated globin gene clusters, Molecular Biology and Evolution (2017).

An article published in Experimental Biology and Medicine (Volume 242, Issue 3, February, 2017) identifies microRNAs (miRNAs) as key factors in some hemoglobinopathies, genetic disorders characterized by alterations in the ...

Promising results from the first clinical trials of globin gene transfer to treat beta-thalassemias-inherited forms of anemia-have eliminated the need for blood transfusions in some individuals. Enhancing current gene therapy ...

Scientists at Karolinska Institutet in collaboration with Estonian Competence Centre on Health Technologies have developed a new gene expression analysis method to widen the usage of blood in biomarker discovery and analysis. ...

In biology, free radicals are often regarded as the source of all evil and the major cause of molecular damage and aging. However, free radicals are indispensable as signaling molecules governing important functions in the ...

Genetic mutations that affect our blood cells' haemoglobin are the most common of all mutations. It has been estimated that around 5% of the world's population carry a defective globin gene.

UCLA stem cell researchers have shown that a novel stem cell gene therapy method could lead to a one-time, lasting treatment for sickle cell diseasethe nation's most common inherited blood disorder.

It seems like a feat of magic. Human DNA, if stretched out into one, long spaghetti-like strand, would measure 2 meters (six feet) long. And yet, all of our DNA is compacted more than 10,000 times to fit inside a single cell. ...

Scientists are beginning to realize that many cellular behaviors, such as metastasizing cancer cells moving through the body or wound healing, aren't random events, but the result of coordinated actions by cells.

Scientists at Baylor College of Medicine, the Lawrence Berkeley National Laboratory, Massachusetts Institute of Technology and Purdue University have completed a model of unprecedented near-atomic resolution of the chemical ...

Black swan events are rare and surprising occurrences that happen without notice and often wreak havoc on society. The metaphor has been used to describe banking collapses, devastating earthquakes and other major surprises ...

The speed at which a tiny ant evolves to cope to its warming city environment suggests that some species may evolve quickly enough to survive, or even thrive, in the warmer temperatures found within cities, according to a ...

While there are already a number of species named after famous British broadcaster and naturalist Sir David Attenborough, including mammals, reptiles, invertebrates and plants, both extinct and extant, not until now has the ...

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Principles of 3-D genome folding and gene expression studied across species - Phys.Org

March 7, 2017 Quinn, an autistic boy, and the line of toys he made before falling asleep. Repeatedly stacking or lining up objects is a behavior commonly associated with autism. Credit: Wikipedia.

The newest study from the Autism Speaks MSSNG project - the world's largest autism genome sequencing program - identified an additional 18 gene variations that appear to increase the risk of autism.

The new report appears this week in the journal Nature Neuroscience. It involved the analysis of 5,205 whole genomes from families affected by autism - making it the largest whole genome study of autism to date.

The omitted letters in MSSNG (pronounced 'missing') represent the missing information about autism that the research program seeks to deliver.

"It's noteworthy that we're still finding new autism genes, let alone 18 of them, after a decade of intense focus," says study co-author Mathew Pletcher, Ph.D., Autism Speaks' vice president for genomic discovery. "With each new gene discovery, we're able to explain more cases of autism, each with its own set of behavioral effects and many with associated medical concerns."

To date, research using the MSSNG genomic database has identified 61 genetic variations that affect autism risk. The research has associated several of these with additional medical conditions that often accompany autism. The goal, Dr. Pletcher says, "is to advance personalized treatments for autism by deepening our understanding of the condition's many subtypes."

The findings also illustrate how whole genome sequencing can guide medical care today. For example, at least two of the autism-associated gene changes described in the paper were associated with increased risk for seizures. Another has been linked to increased risk for cardiac defects, and yet another with adult diabetes. The findings illustrate how whole genome sequencing for autism can provide additional medical guidance to individuals, families and their physicians, the investigators say.

The researchers also determined that many of the 18 newly identified autism genes affect the operation of a small subset of biological pathways in the brain. All of these pathways affect how brain cells develop and communicate with each other. "In all, 80 percent of the 61 gene variations discovered through MSSNG affect biochemical pathways that have clear potential as targets for future medicines," Dr. Pletcher says.

Increasingly, autism researchers are predicting that personalized, more effective treatments will come from understanding these common brain pathways - and how different gene variations alter them.

"The unprecedented MSSNG database is enabling research into the many 'autisms' that make up the autism spectrum," says the study's senior investigator, Stephen Scherer, Ph.D.

For instance, some of the genetic alterations found in the study occurred in families with one person severely affected by autism and others on the milder end of the spectrum, Dr. Scherer notes. "This reinforces the significant neurodiversity involved in this complex condition," he explains. "In addition, the depth of the MSSNG database allowed us to identify resilient individuals who carry autism-associated gene variations without developing autism. We believe that this, too, is an important part of the neurodiversity story."

Dr. Scherer is the research director for the MSSNG project and directs The Centre for Applied Genomics at the Hospital for Sick Children (SickKids), in Toronto. MSSNG is a collaboration between the hospital, Autism Speaks and Verily (formerly Google Life Sciences), which hosts the MSSNG database on its cloud platform.

Traditional genetic analysis looks for mutations, or "spelling changes," in the 1 percent of our DNA that spells out our genes. By contrast, the MSSNG database allows researchers to analyze the entire 3 billion DNA base pairs that make up each person's genome.

In their new study, the investigators went even further - looking beyond DNA "spelling" variations to find other types of genetic changes associated with autism. These included copy number variations (repeated or deleted stretches of DNA) and chromosomal abnormalities. Chromosomes are the threadlike cell structures that package and organize our genes.

The researchers found copy number variations and chromosomal abnormalities to be particularly common in the genomes of people affected by autism.

In addition, many of the copy number variations turned up in areas of the genome once considered "junk DNA." Though this genetic "dark matter" exists outside of our genes, scientists now appreciate that it helps control when and where our genes switch on and off. The precise coordination of genetic activity appears to be particularly crucial to brain development and function.

Through its research platform on the Google Cloud, Autism Speaks is making all of MSSNG's fully sequenced genomes directly available to researchers free of charge, along with analytic tools. In the coming weeks, the MSSNG team will be uploading an additional 2,000 fully sequenced autism genomes, bringing the total over 7,000.

Currently, more than 90 investigators at 40 academic and medical institutions are using the MSSNG database to advance autism research around the world.

Explore further: Largest-ever autism genome study finds most siblings have different autism-risk genes

More information: Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder, Nature Neuroscience (2017). DOI: 10.1038/nn.4524

Journal reference: Nature Neuroscience

Provided by: Autism Speaks

The largest-ever autism genome study, funded by Autism Speaks, reveals that the disorder's genetic underpinnings are even more complex than previously thought: Most siblings who have autism spectrum disorder (ASD) have different ...

A new study from Autism Speaks' MSSNG program expands understanding of autism's complex causes and may hold clues for the future development of targeted treatments. The report, appearing in npj Genomic Medicine is the largest-ever ...

Autism Speaks, the world's leading autism science and advocacy organization, today launched the web-based portal for its MSSNG database, making the resource available to researchers worldwide. The MSSNG portal enables qualified ...

A new study from investigators with the Autism Genome Project, the world's largest research project on identifying genes associated with risk for autism, has found that the comprehensive use of copy number variant (CNV) genetic ...

Autism Speaks, the world's largest autism science and advocacy organization, and BGI, the largest genomic organization in the world and a global leader in whole genome sequencing, jointly announce their partnership to create ...

Princeton University and Simons Foundation researchers have developed a machine-learning approach that for the first time analyzes the entire human genome to predict which genes may cause autism spectrum disorder, raising ...

Since the first case was documented in the United States in 1938, the causes of autism have remained elusive. Hundreds of genes, as well as environmental exposures, have been implicated in these brain disorders. Sex also ...

The newest study from the Autism Speaks MSSNG project - the world's largest autism genome sequencing program - identified an additional 18 gene variations that appear to increase the risk of autism.

Concrete links between the symptoms of autism and synaesthesia have been discovered and clarified for the first time, according to new research by psychologists at the University of Sussex.

A national research network led by UNC School of Medicine's Joseph Piven, MD, found that many toddlers diagnosed with autism at two years of age had a substantially greater amount of extra-axial cerebrospinal fluid (CSF) ...

Results of a small study of adults with autism at Johns Hopkins has added to evidence that their brains can learn to compensate for some language comprehension challenges that are a hallmark of the disorder in children.

In the February 2017 issue of Pediatrics, investigators representing the South Carolina Act Early Team report a five-fold increase in the number of children with autism spectrum disorder (ASD) eligible for early intensive ...

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World's largest autism genome database shines new light on many 'autisms' - Medical Xpress

Genome editing: Pressing the 'delete' button on DNA Science Daily CRISPR-Cas9 is a revolutionary technique for editing genomes and until recently, most studies employing it were aimed at silencing protein-coding genes, the best-studied part of our genome. However our genome consists of 99% of DNA that does not ... and more »

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Genome editing: Pressing the 'delete' button on DNA - Science Daily