MISC

2017年10月

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

NATURE COMMUNICATIONS
  • Michael R. Bowl
  • Michelle M. Simon
  • Neil J. Ingham
  • Simon Greenaway
  • Luis Santos
  • Heather Cater
  • Sarah Taylor
  • Jeremy Mason
  • Natalja Kurbatova
  • Selina Pearson
  • Lynette R. Bower
  • Dave A. Clary
  • Hamid Meziane
  • Patrick Reilly
  • Osamu Minowa
  • Lois Kelsey
  • Glauco P. Tocchini-Valentini
  • Xiang Gao
  • Allan Bradley
  • William C. Skarnes
  • Mark Moore
  • Arthur L. Beaudet
  • Monica J. Justice
  • John Seavitt
  • Mary E. Dickinson
  • Wolfgang Wurst
  • Martin Hrabe de Angelis
  • Yann Herault
  • Shigeharu Wakana
  • Lauryl M. J. Nutter
  • Ann M. Flenniken
  • Colin McKerlie
  • Stephen A. Murray
  • Karen L. Svenson
  • Robert E. Braun
  • David B. West
  • K. C. Kent Lloyd
  • David J. Adams
  • Jacqui White
  • Natasha Karp
  • Paul Flicek
  • Damian Smedley
  • Terrence F. Meehan
  • Helen E. Parkinson
  • Lydia M. Teboul
  • Sara Wells
  • Karen P. Steel
  • Ann-Marie Mallon
  • Steve D. M. Brown
  • 全て表示

8
記述言語
英語
掲載種別
DOI
10.1038/s41467-017-00595-4
出版者・発行元
NATURE PUBLISHING GROUP

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function.

リンク情報
DOI
https://doi.org/10.1038/s41467-017-00595-4
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29026089
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000412860000011&DestApp=WOS_CPL
URL
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85031311476&origin=inward
ID情報
  • DOI : 10.1038/s41467-017-00595-4
  • ISSN : 2041-1723
  • PubMed ID : 29026089
  • SCOPUS ID : 85031311476
  • Web of Science ID : WOS:000412860000011

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