Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-05-29

AUTHORS

Guillaume Vogt, Ariane Chapgier, Kun Yang, Nadia Chuzhanova, Jacqueline Feinberg, Claire Fieschi, Stéphanie Boisson-Dupuis, Alexandre Alcais, Orchidée Filipe-Santos, Jacinta Bustamante, Ludovic de Beaucoudrey, Ibrahim Al-Mohsen, Sami Al-Hajjar, Abdulaziz Al-Ghonaium, Parisa Adimi, Mehdi Mirsaeidi, Soheila Khalilzadeh, Sergio Rosenzweig, Oscar de la Calle Martin, Thomas R Bauer, Jennifer M Puck, Hans D Ochs, Dieter Furthner, Carolin Engelhorn, Bernd Belohradsky, Davood Mansouri, Steven M Holland, Robert D Schreiber, Laurent Abel, David N Cooper, Claire Soudais, Jean-Laurent Casanova

ABSTRACT

Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNγR2 chain. The resulting additional carbohydrate moiety was both necessary and sufficient to abolish the cellular response to IFNγ. We then searched the Human Gene Mutation Database for potential gain-of-N-glycosylation missense mutations; of 10,047 mutations in 577 genes encoding proteins trafficked through the secretory pathway, we identified 142 candidate mutations (∼1.4%) in 77 genes (∼13.3%). Six mutant proteins bore new N-linked carbohydrate moieties. Thus, an unexpectedly high proportion of mutations that cause human genetic disease might lead to the creation of new N-glycosylation sites. Their pathogenic effects may be a direct consequence of the addition of N-linked carbohydrate. More... »

PAGES

692-700

Journal

TITLE

Nature Genetics

ISSUE

7

VOLUME

37

Author Affiliations

  • Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, 156 rue de Vaugirard, 75015, Paris, France
  • French-Chinese Laboratory of Genomics and Life Sciences, Ruijin Hospital, Shanghai Second Medical University, Shanghai, China
  • Institute of Medical Genetics, Cardiff University, CF14 4XN, Cardiff, UK
  • Department of Immunopathology, Saint Louis Hospital, 75010, Paris, France
  • Department of Pediatrics, Pediatric Infectious Diseases and Immunology Units, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
  • National Research Institute of Tuberculosis and Lung Diseases, Shaheed Beheshti University of Medical Sciences, Dar-Abad, 19556, Tehran, Iran
  • Servicio de Inmunologia, Hospital Garrahan, Buenos Aires, Argentina
  • Service of Immunology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  • National Cancer Institute, National Institutes of Health, 20892, Bethesda, Maryland, USA
  • National Human Genome Research Institute, National Institutes of Health, 20892, Bethesda, Maryland, USA
  • Department of Pediatrics, University of Washington, 98109, Seattle, Washington, USA
  • Department of Pediatrics, Klinikum Wels, 4600, Wels, Austria
  • Department of Pediatrics, Hospital for Sick Children, 80337, München, Germany
  • Laboratory of Clinical Infectious Diseases, National Institutes of Health, 20892, Bethesda, Maryland, USA
  • Department of Pathology and Immunology, Washington University, 63110, Saint Louis, Missouri, USA
  • Pediatric Immunology & Hematology Unit, Necker Hospital, 75015, Paris, France
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1581

    DOI

    http://dx.doi.org/10.1038/ng1581

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1011833398

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/15924140


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