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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author

Listed:
  • Joseph T. Glessner

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Kai Wang

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Guiqing Cai

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Olena Korvatska

    (University of Washington, Seattle, Washington 98105, USA)

  • Cecilia E. Kim

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Shawn Wood

    (University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA)

  • Haitao Zhang

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Annette Estes

    (University of Washington, Seattle, Washington 98105, USA)

  • Camille W. Brune

    (University of Illinois at Chicago, Chicago, Illinois 60608, USA)

  • Jonathan P. Bradfield

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Marcin Imielinski

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Edward C. Frackelton

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Jennifer Reichert

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Emily L. Crawford

    (Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37235, USA)

  • Jeffrey Munson

    (University of Washington, Seattle, Washington 98105, USA)

  • Patrick M. A. Sleiman

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Rosetta Chiavacci

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Kiran Annaiah

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Kelly Thomas

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Cuiping Hou

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Wendy Glaberson

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • James Flory

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Frederick Otieno

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Maria Garris

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA)

  • Latha Soorya

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Lambertus Klei

    (University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA)

  • Joseph Piven

    (University of North Carolina, Chapel Hill, North Carolina 27412, USA)

  • Kacie J. Meyer

    (University of Iowa, Iowa City, Iowa 52242, USA)

  • Evdokia Anagnostou

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Takeshi Sakurai

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Rachel M. Game

    (Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37235, USA)

  • Danielle S. Rudd

    (University of Iowa, Iowa City, Iowa 52242, USA)

  • Danielle Zurawiecki

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Christopher J. McDougle

    (Indiana University, Indianapolis, Indiana 46202, USA)

  • Lea K. Davis

    (University of Iowa, Iowa City, Iowa 52242, USA)

  • Judith Miller

    (University of Utah, Salt Lake City, Utah 84112, USA)

  • David J. Posey

    (Indiana University, Indianapolis, Indiana 46202, USA)

  • Shana Michaels

    (University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA)

  • Alexander Kolevzon

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Jeremy M. Silverman

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Raphael Bernier

    (University of Washington, Seattle, Washington 98105, USA)

  • Susan E. Levy

    (Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA)

  • Robert T. Schultz

    (Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA)

  • Geraldine Dawson

    (University of Washington, Seattle, Washington 98105, USA)

  • Thomas Owley

    (University of Illinois at Chicago, Chicago, Illinois 60608, USA)

  • William M. McMahon

    (University of Utah, Salt Lake City, Utah 84112, USA)

  • Thomas H. Wassink

    (University of Iowa, Iowa City, Iowa 52242, USA)

  • John A. Sweeney

    (University of Illinois at Chicago, Chicago, Illinois 60608, USA)

  • John I. Nurnberger

    (Indiana University, Indianapolis, Indiana 46202, USA)

  • Hilary Coon

    (University of Utah, Salt Lake City, Utah 84112, USA)

  • James S. Sutcliffe

    (Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37235, USA)

  • Nancy J. Minshew

    (University of Pittsburg School of Medicine, Pittsburg, Pennsylvania 15260, USA)

  • Struan F. A. Grant

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA)

  • Maja Bucan

    (Dept of Genetics, Biology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA)

  • Edwin H. Cook

    (University of Illinois at Chicago, Chicago, Illinois 60608, USA)

  • Joseph D. Buxbaum

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
    and Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Bernie Devlin

    (University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA)

  • Gerard D. Schellenberg

    (University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA)

  • Hakon Hakonarson

    (Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA)

Abstract

Susceptibility to autism Several lines of evidence point to genetic involvement in autism spectrum disorders (ASDs), neurodevelopmental and neuropsychiatric disorders characterized by impaired verbal communication and social interaction. The clinical and genetic complexities of the condition make it difficult to identify susceptibility factors, but two related studies now present robust evidence for a genetic involvement. The first, a genome-wide association study, identifies six single-nucleotide polymorphisms strongly associated with autism. These variants lie between two genes encoding neuronal cell-adhesion molecules (cadherins 9 and 10), suggesting possible involvement in ASD pathogenesis. The second study used copy number variation screens to identify genetic variants in two major gene pathways in children with ASDs. The changes are in the ubiquitin pathway, which has previously been associated with neurological disease, and in genes for neuronal cell-adhesion molecules.

Suggested Citation

  • Joseph T. Glessner & Kai Wang & Guiqing Cai & Olena Korvatska & Cecilia E. Kim & Shawn Wood & Haitao Zhang & Annette Estes & Camille W. Brune & Jonathan P. Bradfield & Marcin Imielinski & Edward C. Fr, 2009. "Autism genome-wide copy number variation reveals ubiquitin and neuronal genes," Nature, Nature, vol. 459(7246), pages 569-573, May.
    • Handle: RePEc:nat:nature:v:459:y:2009:i:7246:d:10.1038_nature07953
    DOI: 10.1038/nature07953
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    Cited by:

    1. You Yu & Bing Zhang & Peifeng Ji & Zhenqiang Zuo & Yongxi Huang & Ning Wang & Chang Liu & Shuang-Jiang Liu & Fangqing Zhao, 2022. "Changes to gut amino acid transporters and microbiome associated with increased E/I ratio in Chd8+/− mouse model of ASD-like behavior," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
    2. Ilona Quaak & Madeleine R. Brouns & Margot Van de Bor, 2013. "The Dynamics of Autism Spectrum Disorders: How Neurotoxic Compounds and Neurotransmitters Interact," IJERPH, MDPI, vol. 10(8), pages 1-25, August.
    3. Noor B. Almandil & Deem N. Alkuroud & Sayed AbdulAzeez & Abdulla AlSulaiman & Abdelhamid Elaissari & J. Francis Borgio, 2019. "Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies," IJERPH, MDPI, vol. 16(4), pages 1-16, February.
    4. repec:zib:zjhcdc:v:2:y:2022:i:1:p:15-19 is not listed on IDEAS
    5. Patricia González-Rodríguez & Daniel J. Klionsky & Bertrand Joseph, 2022. "Autophagy regulation by RNA alternative splicing and implications in human diseases," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    6. Chang Hoon Cho & Ilana Vasilisa Deyneko & Dylann Cordova-Martinez & Juan Vazquez & Anne S. Maguire & Jenny R. Diaz & Abigail U. Carbonell & Jaafar O. Tindi & Min-Hui Cui & Roman Fleysher & Sophie Molh, 2023. "ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function," Nature Communications, Nature, vol. 14(1), pages 1-20, December.

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