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Bowl, M.R.* ; Simon,  M.M.* ; Ingham, N.J.* ; Greenaway, S.* ; Santos, L.* ; Cater, H.* ; Taylor, S.* ; Mason, J.* ; Kurbatova, N.* ; Pearson, S.* ; Bower, L.R.* ; Clary, D.* ; Meziane, H.* ; Reilly, P.* ; Minowa, O.* ; Kelsey, L.* ; Tocchini-Valentini, G.P.* ; Gao, X.* ; Bradley, A.* ; Skarnes, W.C.* ; Moore, M.* ; Beaudet, A.L.* ; Justice, M.J.* ; Seavitt, J.R.* ; Dickinson, M.E.* ; Wurst, W. ; Hrabě de Angelis, M. ; Herault, Y.* ; Wakana, S.* ; Nutter, L.M.J.* ; Flenniken, A.M.* ; McKerlie, C.* ; Murray, S.A.* ; Svenson, K.L.* ; Braun, R.E.* ; West, D.B.* ; Llyod, K.C.K.* ; Adams, D.J.* ; White, J.* ; Karp, N.* ; Flicek, P.* ; Smedley, D.* ; Meehan, T.F.* ; Parkinson, H.E.* ; Teboul, L.* ; Wells, S.* ; Steel, K.P.* ; Mallon, A.M.* ; Brown, S.D.* ; International Mouse Phenotyping Consortium (Beig, J. ; Bürger, A. ; Giesert, F. ; Graw, J. ; Kühn, R. ; Oritz, O. ; Schick, J. ; Seisenberger, C. ; Amarie, O.V. ; Garrett, L. ; Hölter, S.M. ; Zimprich, A. ; Aguilar-Pimentel, J.A. ; Beckers, J. ; Brommage, R. ; Calzada-Wack, J. ; Fuchs, H. ; Gailus-Durner, V. ; Lengger, C. ; Leuchtenberger, S. ; Maier, H. ; Marschall, S. ; Moreth, K. ; Neff, F. ; Östereicher, M.A. ; Rozman, J. ; Steinkamp, R. ; Stoeger, C. ; Treise, I. ; Stöger, T. ; Yildirim, A.Ö. ; Becker, L. ; Rathkolb, B. ; Eickelberg, O. ; Schmidt-Weber, C.B.)

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

Nat. Commun. 8:886 (2017)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Otitis-media; Genome-wide; Hair-cells; Mouse; Impairment; Mutagenesis; Resource; Mutation; Disease; Project
Sprache englisch
Veröffentlichungsjahr 2017
HGF-Berichtsjahr 2017
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 8, Heft: 1, Seiten: , Artikelnummer: 886 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Developmental Genetics (IDG)
Institute of Experimental Genetics (IEG)
Institute of Lung Health and Immunity (LHI)
Institute for Allergy Research (IAF)
Institute of Molecular Toxicology and Pharmacology (TOX)
POF Topic(s) 30204 - Cell Programming and Repair
30201 - Metabolic Health
30202 - Environmental Health
30203 - Molecular Targets and Therapies
Forschungsfeld(er) Genetics and Epidemiology
Lung Research
Allergy
Enabling and Novel Technologies
PSP-Element(e) G-500500-001
G-500600-001
G-500500-002
G-500692-001
G-500600-004
G-505000-001
G-505000-007
G-505400-001
G-505200-001
DOI 10.1038/s41467-017-00595-4
WOS ID WOS:000412860000011
Scopus ID 85031311476
PubMed ID 29026089
Erfassungsdatum 2017-10-13
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