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Keyword: cnv

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  • New autism susceptibility genes identified

    06/09/2010 3:37:01 PM PDT · by Pharmboy · 16 replies · 67+ views
    Mount Sinai Med ^ | June 9, 2010 | Joseph Buxbaum, PhD
    Autism Genome Project Phase 2 results published in Nature Mount Sinai researchers and the Autism Genome Project Consortium (AGP) announced today that they have identified new autism susceptibility genes that may lead to the development of new treatment approaches. These genes, which include SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus, primarily belong to synapse-related pathways, while others are involved in cellular proliferation, projection and motility, and intracellular signaling. The findings were published today in Nature by researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine, together with an international consortium of researchers...
  • Lose Genes, Gain Weight

    01/04/2010 11:24:33 PM PST · by neverdem · 8 replies · 583+ views
    ScienceNOW Daily News ^ | 7 December 2009 | Mitch Leslie
    Obesity is a disease of excess, but a new study suggests that a few obese patients are actually lacking something--a piece of one of their chromosomes. The loss might remove a gene that helps the body manage blood sugar and appetite. Obesity runs in families, and researchers have identified several genetic variants that seem to boost the odds of becoming obese. However, these variants only explain a minority of cases. In the last decade, researchers have discovered that genetic differences among people can stem from lost or duplicated sections of chromosomes, called copy number variants (CNVs). Because of CNVs, for...
  • Evolution's Little Helper: Xeroxed Genes

    09/05/2009 12:33:45 AM PDT · by neverdem · 11 replies · 928+ views
    ScienceNOW Daily News ^ | 3 September 2009 | Elizabeth Pennisi
    Enlarge ImageGood catch. Using zebrafish, researchers were able to track down the gene that causes this giant mirror carp to have few, large scales. Credit: Oliver Hasselhoff A long-standing question in biology is how evolution tinkers with genes without mucking things up. The prevailing theory is that the genome has copies of critical genes, so that if mutations spoil one, there's a backup. Now researchers have new proof that evolution can work this way. The scientists tracked down a duplicated gene that made possible so-called mirror fish, which have large, reflective scales. "This is a valuable proof of concept...
  • Chimps and People Show 'Architectural' Genetic Design

    11/16/2008 8:38:56 AM PST · by GodGunsGuts · 96 replies · 1,286+ views
    ICR ^ | Brian Thomas, M.S.
    An international team of geneticists recently set out to explore in more detail the evolutionary relationship between humans and chimpanzees. Despite their assumption that man and chimp share a common ancestor, their findings are actually more consistent with the creation model...
  • The Claim: Identical Twins Have Identical DNA (No, copy-number variation strikes again!)

    03/15/2008 12:24:17 AM PDT · by neverdem · 27 replies · 1,507+ views
    NY Times ^ | March 11, 2008 | ANAHAD O’CONNOR
    Really? THE FACTS It is a basic tenet of human biology, taught in grade schools everywhere: Identical twins come from the same fertilized egg and, thus, share identical genetic profiles. But according to new research, though identical twins share very similar genes, identical they are not. The discovery opens a new understanding of why two people who hail from the same embryo can differ in phenotype, as biologists refer to a person’s physical manifestation. The new findings appear in the March issue of The American Journal of Human Genetics, in a study conducted by scientists at the University of Alabama...
  • New mutations implicated in half of autism cases

    07/25/2007 12:12:34 AM PDT · by neverdem · 51 replies · 1,275+ views ^ | 24 July 2007 | Heidi Ledford
    Close window Published online: 24 July 2007; | doi:10.1038/news070723-1 New mutations implicated in half of autism casesDisorder linked to genetic differences between parent and offspring.Heidi Ledford Autistic children display a wide range of different symptoms.HENNY ALLIS / SCIENCE PHOTO LIBRARY Half of all cases of male autism may be caused by spontaneous genetic mutations, say researchers who have studied the genetic patterns of the condition. Offspring who inherit such mutations are at a greater risk of having an autistic child themselves. Autistic people have difficulty relating socially with others and tend to focus obsessively on a narrow set of...
  • Human genome more variable than previously thought

    11/24/2006 9:48:22 AM PST · by neverdem · 21 replies · 1,458+ views ^ | 22 November 2006 | Helen Pearson
    Close window Published online: 22 November 2006; | doi:10.1038/news061120-9 Human genome more variable than previously thoughtSurprisingly large segments of DNA found to differ from person to person.Helen Pearson How alike are you and me? About 99.5%Getty Nearly six years after the sequence of the human genome was sketched out, one might assume that researchers had worked out what all that DNA means. But a new investigation has left them wondering just how similar one person's genome is to another's. Geneticists have generally assumed that your string of DNA 'letters' is 99.9% identical to that of your neighbour's, with differences...