Feature Channels: Genetics

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It turns out that the rigid "line in the sand" over which the human sex chromosomes---the Y and X--- go to avoid crossing over is a bit blurrier than previously thought. Contrary to the current scientific consensus, Arizona State University assistant professor Melissa Wilson Sayres has led a research team that has shown that X and Y DNA swapping may occur much more often. And this promiscuous swapping, may in turn, aid in our understanding of human history and diversity, health and disease, as well as blur rigid chromosomal interpretations of sexual identity.

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Like humans, fruit flies sleep at night, caffeine affects their sleep, and if they get a lousy night’s sleep it can affect their memory performance. But what can they tell us about the connection between sleep deprivation and metabolic disorders like diabetes and obesity? A lot, according to a new study that is the first to identify that a conserved gene — translin — works as a modulator of sleep in response to metabolic changes.

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The types of gene mutations that contribute to autism are more diverse than previously thought, report researchers at University of California, San Diego School of Medicine in the March 24 online issue of The American Journal of Human Genetics. The findings, they say, represent a significant advance in efforts to unravel the genetic basis of autism spectrum disorder (ASD).

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This study has helped determine that UBE3A gene loss specifically from GABAergic neurons is what’s critical for seizures in Angelman patients. But UBE3A loss from other neuron types may drive other phenotypes associated with the condition.

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Using cryo-electron microscopy, Berkeley Lab scientist Eva Nogales and her team have made a breakthrough in our understanding of how our molecular machinery finds the right DNA to copy for making proteins, showing with unprecedented detail the role of a powerhouse transcription factor known as TFIID. The study was published this week in Nature.

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Charcot-Marie-Tooth Disease (CMT) is a family of inherited disorders of the peripheral nervous system, affecting approximately one in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most of which have to date been linked to a small set of causative genes. New research from the department of Neurology at the Perelman School of Medicine at the University of Pennsylvania and the Children’s Hospital of Philadelphia recently spanned the globe to uncover a new genetic cause of CMT1. Their findings are published online this week in Brain.

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Pediatric researchers have found that rare genetic changes strongly increase the likelihood that a child will have higher bone density, but only in girls. Because childhood and adolescence are critical periods for bone formation, these gene variants play an important role in increasing bone strength and reducing vulnerability to fractures later in a woman’s life.

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The Hemophilia and Thrombosis Treatment Center at UC San Diego Health has joined a nationwide clinical trial testing a potential gene therapy that may one day provide a better and long-lasting treatment for people with hemophilia B.

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A fungal disease that poses a serious threat to cacao plants - the source of chocolate - reproduces clonally, Purdue University researchers find.

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An international team used an amplification technique to sequence the genomes of two divergent Plasmodium malaria species from miniscule volumes of chimpanzee blood to find clues about the evolution and pathogenicity of Plasmodium falciparum, the deadliest malaria parasite that affects people. Understanding the origins of emerging diseases – and more established disease agents -- is critical to gauge future human infection risks and find new treatment and prevention approaches.

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Think your DNA is all human? Think again. And a new discovery suggests it’s even less human than scientists previously thought. Nineteen new pieces of non-human DNA -- left by viruses that first infected our ancestors hundreds of thousands of years ago -- have just been found, lurking between our own genes.

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The island fox has made a remarkable comeback from the brink of extinction, with three of six populations on their way to becoming the fastest mammal recovered under the Endangered Species Act. But new Colorado State University-led research uncovers a hidden danger to the future viability of some island fox populations.

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Demonstrating the potential of precision medicine, an international study based at UT Southwestern Medical Center used next-generation DNA sequencing technology to identify more than 1,000 gene variants that affect susceptibility to systemic lupus erythematosus (SLE).

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For the first time, researchers at the Stowers Institute have mapped where recombination occurs across the whole genome of the fruit fly Drosophila melanogaster after a single round of meiosis.

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Residents of the remote equatorial islands of Melanesia share fragments of genetic code with two extinct human species. That’s the key finding of a new study published March 17 in the journal Science. An international team contributed to the research, which compared the DNA sequences of 35 modern people living on islands off the coast of New Guinea with DNA drawn from two early human species: Denisovans, whose remains were found in Siberia, and Neandertals, first discovered in Germany. “Substantial amounts of Neandertal and Denisovan DNA can now be robustly identified in the genomes of present-day Melanesians, allowing new insights into human evolutionary history,” they wrote. “As genome-scale data from worldwide populations continues to accumulate, a nearly complete catalog of surviving archaic lineages may soon be within reach.”

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Scientists have long sought an efficient method for targeting RNA— intermediary genetic material that carries the genetic code from the cell’s nucleus to protein-making machinery — in living cells. Researchers at University of California, San Diego School of Medicine have now achieved this by applying the popular DNA-editing technique CRISPR-Cas9 to RNA. The study is published March 17 in Cell.

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A new study published in Physiological Genomics suggests that the brain shows signs of aging earlier than old age. The study found that the microglia cells—the immune cells of the brain—in middle-aged mice already showed altered activity seen in microglia from older mice.

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The most common immune disorder, common variable immunodeficiency disorder (CVID), is notoriously difficult to diagnose early, before serious complications develop. Genetic analysis of six families from across the U.S. and Europe has revealed that mutations in IKAROS, known for its central role in immune cell development, define a new class of CVID. Published in the New England Journal of Medicine, the results open the door to personalized health care tailored to patients with this disorder.

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Research from Rutgers Cancer Institute of New Jersey examining difficult to treat tumors through genomic profiling shows that tumors with alterations in a signaling pathway responsible for cell regulation may respond to targeted therapy regardless of where the tumor originated in the body.

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A University of Houston researcher and his team have discovered an important link between alcohol and breast cancer by identifying a cancer-causing gene triggered by alcohol.

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Our brains are marvels of connectivity, packed with cells that continually communicate with one another. This communication occurs across synapses, the transit points where chemicals called neurotransmitters leap from one neuron to another, allowing us to think, to learn and to remember. Researchers have known that these synapses often need a boost to send information across neuronal divides.

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Scientists from The Hebrew University of Jerusalem, Columbia University Medical Center (CUMC) and The New York Stem Cell Foundation Research Institute (NYSCF) have succeeded in generating a new type of embryonic stem cell that carries a single copy of the human genome, instead of the two copies typically found in normal stem cells. The scientists reported their findings today in the journal Nature.

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Human use of copper dating back to the Bronze Age has shaped the evolution of bacteria, leading to bugs that are highly resistant to the metal’s antibacterial properties.

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Dana-Farber Cancer Institute researchers are leading a multicenter genetic study of prostate cancer in Sub-Saharan Africa to try to find new information about the genetic etiology of prostate cancer.

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A study led by scientists at The Scripps Research Institute (TSRI) shows that genome-wide molecular profiling of kidney biopsies may be a key to catching organ rejection before it’s too late.

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University of Utah scientists identified two genes that make some pigeon breeds develop feathered feet known as muffs, while others have scaled feet. The same or similar genes might explain scaled feet in chickens and other birds, and provide insight into how some dinosaurs got feathers before they evolved into birds.

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University of Virginia scientists have demonstrated that neurons in the brain that have been supplemented with a synthetic gene can be remotely manipulated by a magnetic field. The finding has implications for possible future treatment of a range of neurological diseases, such as schizophrenia and Parkinson’s disease.

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Video: Rick Groleau As doctors and researchers explore the effectiveness of treating cancer patients with combinations of chemotherapy drugs, their attention has largely been focused on how much of each drug to give. A new study has found that achieving best results may also require looking into how much time should pass between delivering one drug and the next.

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An international team of scientists has identified novel gene locations associated with childhood body mass index (BMI)—an important measurement related to childhood obesity. This largest-ever genetic study of childhood BMI may offer biological clues to designing future interventions.

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The Genetics Society of America takes an active and collaborative role in the Promoting Active Learning & Mentoring (PALM) Network, along with our partners: the American Society for Cell Biology and the American Society of Plant Biologists.PALM Fellows work with mentors to develop, use and evaluate evidence-based active learning strategies in their own classroom.

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An Indiana University biologist has been awarded $750,000 to identify the genetic mechanism that makes up a "switch" allowing some genetically identical species to develop strikingly different physical characteristics based on their environment, a phenomenon known as "polyphenism.

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In the first known discovery of its kind, a Case Western Reserve University School of Medicine-led team has found that HIV patients in Africa with a certain genetic variant have a 63-percent lower chance of developing tuberculosis than HIV patients without the genetic variant.

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Van Andel Research Institute (VARI) Professor H. Eric Xu will receive the prestigious Hans Neurath Award in recognition of a 2015 discovery that could lead to the development of better, more targeted therapies for many diseases.

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Sometimes, a nematode worm just needs to take a nap. In fact, its life may depend on it. New research has identified a protein that promotes a sleep-like state in the nematode Caenorhabditis elegans. Without the snooze-inducing molecule, worms are more likely to die when confronted with stressful conditions, report researchers in the March 7, 2016 issue of the journal GENETICS.

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Genetic research on concussions is progressing in many different avenues. However, researchers presenting their work at the American Orthopaedic Society for Sports Medicine’s (AOSSM) Specialty Day, believe there may be a new genetic connection regarding recovery rates following a sports-related concussion.

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'Four-Flavored' Tetraquark, Planets Born Like Cracking Paint, New 2D Materials, The World's Newest Atom-Smasher in the Physics News Source sponsored by AIP.

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This year marks the 150th anniversary of Gregor Mendel’s publication that—after sitting ignored for a few decades—helped launch the field of modern genetics. Today, we know that inheritance is far more complex than what Mendel saw in his pea plants. Our scientists who track progress in genetics research funded by NIH’s National Institute of General Medical Sciences share some of the things researchers have learned about how traits are passed from one generation to the next.

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In a finding with enormous implications for cancer diagnostics and therapeutics, Whitehead Institute scientists have discovered that breaches in looping chromosomal structures known as “insulated neighborhoods” can activate oncogenes capable of fueling aggressive tumor growth.

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A research collaboration that combines novel “big-data” informatics tools with expertise in basic biology has uncovered details of an essential process in life: how a crucial enzyme locates the site on DNA where it begins to direct the synthesis of RNA. The finding may help scientists discover antimicrobial medicines, and shed light on other important cellular processes.

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Researchers at the University of British Columbia have identified a common ancestral gene that enabled the evolution of advanced life over a billion years ago.

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P53, a tumor suppressor gene that is mutated and inactivated in the vast majority of cancers, has often been described as the “guardian of the genome” because of its protective effects against cancer. Now, researchers at The Wistar Institute are also making the case for p53 as the “guardian of obesity,” having found that a variant of the gene is heavily implicated in metabolism, which may lead to obesity and the development of type 2 diabetes.

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The research team, using head shapes and genetic analyses, recommend that six groups of subspecies of the western rattlesnake be elevated to full species status.

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Most doctors and nurses review a patient’s family history to identify risk factors for heart disease and cancer, often through a paper checklist or brief interview. But more deliberate efforts to map a patient’s family tree could identify additional risks and drive patients to timely screenings for illnesses that may unknowingly affect them, according to a new study from Duke Health.

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A new study from Washington University School of Medicine in St. Louis has identified two genes that, when altered in specific ways, either promote or undermine cardiovascular health. The findings may help guide efforts to design new preventive drugs, similar to the way statins now are prescribed to lower “bad” cholesterol to reduce the risk of heart disease.

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A dragonfly barely an inch and a half long appears to be animal world's most prolific long distance traveler – flying thousands of miles over oceans as it migrates from continent to continent – according to newly published research led by biologists at Rutgers University-Newark.

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Latinas who eat processed meats such as bacon and sausage may have an increased risk for breast cancer, according to a new study that did not find the same association among white women.

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A new discovery about ischemic stroke may allow to doctors to predict a patient’s risk of having a second stroke using a commonly performed blood test and their genetic profile.

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Genetics and specific brain regions are linked to sex differences in chimpanzees’ scratching behavior, a common indicator of anxiety in humans and others primates, according to a research study led by Georgia State University that shows chimpanzees can be models of human mental illness.

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The International Cancer Genome Consortium (ICGC) announced today that its Data Access Compliance Office (DACO) authorized its 1,000th user, giving them access to the Consortium’s Controlled Access datasets.

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A new clinical study from the Mayo Clinic Center for Individualized Medicine shows that whole-exome sequencing (WES) could serve as a viable diagnostic approach for identifying rare inherited diseases and providing a resolution for patients on a diagnostic odyssey.