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

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; Sue Allen; Sharon Clementson-Mobbs; Gemma Codner; Martin Fray; Wendy Gardiner; Russell Joynson; Janet Kenyon; Jorik Loeffler; Barbara Nell; Andrew Parker; Deen Quwailid; Michelle Stewart; Alison Walling; Rumana Zaman; Chao Kung Chen; Nathalie Conte; Peter Matthews; Mike Relac; Ilinca Tudose; Jonathan Warren; Elise Le Marchand; Amal El Amri; Leila El Fertak; Hamid Ennah; Dalila Ali-Hadji; Abdel Ayadi; Marie Wattenhofer-Donze; David Moulaert; Sylvie Jacquot; Philippe André; Marie Christine Birling; Guillaume Pavlovic; Valérie Lalanne; Aline Lux; Fabrice Riet; Christophe Mittelhaeuser; Raphael Bour; Alain Guimond; Chaouki Bam'Hamed; Sophie Leblanc; Laurent Vasseur; Mohammed Selloum; Tania Sorg; Shinya Ayabe; Tamio Furuse; Hideki Kaneda; Kimio Kobayashi; Hiroshi Masuya; Ikuo Miura; Yuichi Obata; Tomohiro Suzuki; Masaru Tamura; Nobuhiko Tanaka; Ikuko Yamada; Atsushi Yoshiki; Zorana Berberovic; Mohammed Bubshait; Jorge Cabezas; Tracy Carroll; Greg Clark; Shannon Clarke; Amie Creighton; Ozge Danisment; Mohammad Eskandarian; Patricia Feugas; Marina Gertsenstein; Ruolin Guo; Jane Hunter; Elsa Jacob; Qing Lan; Valerie Laurin; Napoleon Law; Sue MacMaster; David Miller; Lily Morikawa; Susan Newbigging; Celeste Owen; Patricia Penton; Monica Pereira; Dawei Qu; Xueyuan Shang; Gillian Sleep; Khondoker Sohel; Sandra Tondat; Yanchun Wang; Igor Vukobradovic; Yingchun Zhu; Francesco Chiani; Chiara Di Pietro; Gianfranco Di Segni; Olga Ermakova; Filomena Ferrara; Paolo Fruscoloni; Aalessia Gambadoro; Serena Gastaldi; Elisabetta Golini; Gina La Sala; Silvia Mandillo; Daniela Marazziti; Marzia Massimi; Rafaele Matteoni; Tiziana Orsini; Miriam Pasquini; Marcello Raspa; Aline Rauch; Gianfranco Rossi; Nicoletta Rossi; Sabrina Putti; Ferdinando Scavizzi; Giuseppe D. Tocchini-Valentini; Joachim Beig; Antje Bürger; Florian Giesert; Jochen Graw; Ralf Kühn; Oskar Oritz; Joel Schick; Claudia Seisenberger; Oana Amarie; Lillian Garrett; Sabine M. Hölter; Annemarie Zimprich; Antonio Aguilar-Pimentel; Johannes Beckers; Robert Brommage; Julia Calzada-Wack; Helmut Fuchs; Valérie Gailus-Durner; Christoph Lengger; Stefanie Leuchtenberger; Holger Maier; Susan Marschall; Kristin Moreth; Frauke Neff; Manuela A. Östereicher; Jan Rozman; Ralph Steinkamp; Claudia Stoeger; Irina Treise; Tobias Stoeger; Ali Önder Yildrim; Oliver Eickelberg; Lore Becker; Thomas Klopstock; Markus Ollert; Dirk H. Busch; Carsten Schmidt-Weber; Raffi Bekeredjian; Andreas Zimmer; Birgit Rathkolb; Eckhard Wolf; Martin Klingenspor; 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

doi:10.1038/s41467-017-00595-4

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

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, Sue Allen, Sharon Clementson-Mobbs, Gemma Codner, Martin FrayWendy Gardiner, Russell Joynson, Janet Kenyon, Jorik Loeffler, Barbara Nell, Andrew Parker, Deen Quwailid, Michelle Stewart, Alison Walling, Rumana Zaman, Chao Kung Chen, Nathalie Conte, Peter Matthews, Mike Relac, Ilinca Tudose, Jonathan Warren, Elise Le Marchand, Amal El Amri, Leila El Fertak, Hamid Ennah, Dalila Ali-Hadji, Abdel Ayadi, Marie Wattenhofer-Donze, David Moulaert, Sylvie Jacquot, Philippe André, Marie Christine Birling, Guillaume Pavlovic, Valérie Lalanne, Aline Lux, Fabrice Riet, Christophe Mittelhaeuser, Raphael Bour, Alain Guimond, Chaouki Bam'Hamed, Sophie Leblanc, Laurent Vasseur, Mohammed Selloum, Tania Sorg, Shinya Ayabe, Tamio Furuse, Hideki Kaneda, Kimio Kobayashi, Hiroshi Masuya, Ikuo Miura, Yuichi Obata, Tomohiro Suzuki, Masaru Tamura, Nobuhiko Tanaka, Ikuko Yamada, Atsushi Yoshiki, Zorana Berberovic, Mohammed Bubshait, Jorge Cabezas, Tracy Carroll, Greg Clark, Shannon Clarke, Amie Creighton, Ozge Danisment, Mohammad Eskandarian, Patricia Feugas, Marina Gertsenstein, Ruolin Guo, Jane Hunter, Elsa Jacob, Qing Lan, Valerie Laurin, Napoleon Law, Sue MacMaster, David Miller, Lily Morikawa, Susan Newbigging, Celeste Owen, Patricia Penton, Monica Pereira, Dawei Qu, Xueyuan Shang, Gillian Sleep, Khondoker Sohel, Sandra Tondat, Yanchun Wang, Igor Vukobradovic, Yingchun Zhu, Francesco Chiani, Chiara Di Pietro, Gianfranco Di Segni, Olga Ermakova, Filomena Ferrara, Paolo Fruscoloni, Aalessia Gambadoro, Serena Gastaldi, Elisabetta Golini, Gina La Sala, Silvia Mandillo, Daniela Marazziti, Marzia Massimi, Rafaele Matteoni, Tiziana Orsini, Miriam Pasquini, Marcello Raspa, Aline Rauch, Gianfranco Rossi, Nicoletta Rossi, Sabrina Putti, Ferdinando Scavizzi, Giuseppe D. Tocchini-Valentini, Joachim Beig, Antje Bürger, Florian Giesert, Jochen Graw, Ralf Kühn, Oskar Oritz, Joel Schick, Claudia Seisenberger, Oana Amarie, Lillian Garrett, Sabine M. Hölter, Annemarie Zimprich, Antonio Aguilar-Pimentel, Johannes Beckers, Robert Brommage, Julia Calzada-Wack, Helmut Fuchs, Valérie Gailus-Durner, Christoph Lengger, Stefanie Leuchtenberger, Holger Maier, Susan Marschall, Kristin Moreth, Frauke Neff, Manuela A. Östereicher, Jan Rozman, Ralph Steinkamp, Claudia Stoeger, Irina Treise, Tobias Stoeger, Ali Önder Yildrim, Oliver Eickelberg, Lore Becker, Thomas Klopstock, Markus Ollert, Dirk H. Busch, Carsten Schmidt-Weber, Raffi Bekeredjian, Andreas Zimmer, Birgit Rathkolb, Eckhard Wolf, Martin Klingenspor, 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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

114 Citations (Scopus)

Abstract

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.

Original language	English
Article number	886
Journal	Nature Communications
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s41467-017-00595-4
Publication status	Published - 1 Dec 2017

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10.1038/s41467-017-00595-4

Cite this

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. A., Meziane, H., Reilly, P., Minowa, O., Kelsey, L., Allen, S., Clementson-Mobbs, S., Codner, G., ... Brown, S. D. M. (2017). A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature Communications, 8(1), Article 886. https://doi.org/10.1038/s41467-017-00595-4

@article{2e860f0cea4e4b1494330d440bab810b,

title = "A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction",

abstract = "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.",

author = "Bowl, {Michael R.} and Simon, {Michelle M.} and Ingham, {Neil J.} and Simon Greenaway and Luis Santos and Heather Cater and Sarah Taylor and Jeremy Mason and Natalja Kurbatova and Selina Pearson and Bower, {Lynette R.} and Clary, {Dave A.} and Hamid Meziane and Patrick Reilly and Osamu Minowa and Lois Kelsey and Sue Allen and Sharon Clementson-Mobbs and Gemma Codner and Martin Fray and Wendy Gardiner and Russell Joynson and Janet Kenyon and Jorik Loeffler and Barbara Nell and Andrew Parker and Deen Quwailid and Michelle Stewart and Alison Walling and Rumana Zaman and Chen, {Chao Kung} and Nathalie Conte and Peter Matthews and Mike Relac and Ilinca Tudose and Jonathan Warren and {Le Marchand}, Elise and {El Amri}, Amal and {El Fertak}, Leila and Hamid Ennah and Dalila Ali-Hadji and Abdel Ayadi and Marie Wattenhofer-Donze and David Moulaert and Sylvie Jacquot and Philippe Andr{\'e} and Birling, {Marie Christine} and Guillaume Pavlovic and Val{\'e}rie Lalanne and Aline Lux and Fabrice Riet and Christophe Mittelhaeuser and Raphael Bour and Alain Guimond and Chaouki Bam'Hamed and Sophie Leblanc and Laurent Vasseur and Mohammed Selloum and Tania Sorg and Shinya Ayabe and Tamio Furuse and Hideki Kaneda and Kimio Kobayashi and Hiroshi Masuya and Ikuo Miura and Yuichi Obata and Tomohiro Suzuki and Masaru Tamura and Nobuhiko Tanaka and Ikuko Yamada and Atsushi Yoshiki and Zorana Berberovic and Mohammed Bubshait and Jorge Cabezas and Tracy Carroll and Greg Clark and Shannon Clarke and Amie Creighton and Ozge Danisment and Mohammad Eskandarian and Patricia Feugas and Marina Gertsenstein and Ruolin Guo and Jane Hunter and Elsa Jacob and Qing Lan and Valerie Laurin and Napoleon Law and Sue MacMaster and David Miller and Lily Morikawa and Susan Newbigging and Celeste Owen and Patricia Penton and Monica Pereira and Dawei Qu and Xueyuan Shang and Gillian Sleep and Khondoker Sohel and Sandra Tondat and Yanchun Wang and Igor Vukobradovic and Yingchun Zhu and Francesco Chiani and {Di Pietro}, Chiara and {Di Segni}, Gianfranco and Olga Ermakova and Filomena Ferrara and Paolo Fruscoloni and Aalessia Gambadoro and Serena Gastaldi and Elisabetta Golini and Sala, {Gina La} and Silvia Mandillo and Daniela Marazziti and Marzia Massimi and Rafaele Matteoni and Tiziana Orsini and Miriam Pasquini and Marcello Raspa and Aline Rauch and Gianfranco Rossi and Nicoletta Rossi and Sabrina Putti and Ferdinando Scavizzi and Tocchini-Valentini, {Giuseppe D.} and Joachim Beig and Antje B{\"u}rger and Florian Giesert and Jochen Graw and Ralf K{\"u}hn and Oskar Oritz and Joel Schick and Claudia Seisenberger and Oana Amarie and Lillian Garrett and H{\"o}lter, {Sabine M.} and Annemarie Zimprich and Antonio Aguilar-Pimentel and Johannes Beckers and Robert Brommage and Julia Calzada-Wack and Helmut Fuchs and Val{\'e}rie Gailus-Durner and Christoph Lengger and Stefanie Leuchtenberger and Holger Maier and Susan Marschall and Kristin Moreth and Frauke Neff and {\"O}stereicher, {Manuela A.} and Jan Rozman and Ralph Steinkamp and Claudia Stoeger and Irina Treise and Tobias Stoeger and Yildrim, {Ali {\"O}nder} and Oliver Eickelberg and Lore Becker and Thomas Klopstock and Markus Ollert and Busch, {Dirk H.} and Carsten Schmidt-Weber and Raffi Bekeredjian and Andreas Zimmer and Birgit Rathkolb and Eckhard Wolf and Martin Klingenspor and Tocchini-Valentini, {Glauco P.} and Xiang Gao and Allan Bradley and Skarnes, {William C.} and Mark Moore and Beaudet, {Arthur L.} and Justice, {Monica J.} and John Seavitt and Dickinson, {Mary E.} and Wolfgang Wurst and {De Angelis}, {Martin Hrabe} and Yann Herault and Shigeharu Wakana and Nutter, {Lauryl M.J.} and Flenniken, {Ann M.} and Colin McKerlie and Murray, {Stephen A.} and Svenson, {Karen L.} and Braun, {Robert E.} and West, {David B.} and Lloyd, {K. C.Kent} and Adams, {David J.} and Jacqui White and Natasha Karp and Paul Flicek and Damian Smedley and Meehan, {Terrence F.} and Parkinson, {Helen E.} and Teboul, {Lydia M.} and Sara Wells and Steel, {Karen P.} and Mallon, {Ann Marie} and Brown, {Steve D.M.}",

note = "Funding Information: Approval Licence: Approval Number: Exp14—010 Research title: Collection, maintenance, storage, breeding and distribution of the mouse strains for the Biological Resource Approval committee: The Jackson Laboratory Institutional Animal Care and Use Committee (IACUC) Approval Licence: Institutional Permit: NIH Office of Laboratory Animal Welfare (OLAW) # A3268-01 OLAW Assurance # 811101 Production Grant IACUC Protocol: 99066 Phenotyping grant Animal Use Summary IACUC protocol 11005 Approval committee: Animal Care Committee (ACC) of The Centre for Phenogenomics Approval Licence: Animal Use Protocol (AUP) 0153, 0275, 0277, 0279 Approval committee: UC Davis Institutional Animal Care and Use Committee (IACUC) Approval Licence: Protocol #18119 Approval committee: Animal Welfare and Ethical Review Body (AWERB) Approval Licence: PPL 80/2076 Valid 27 November 2006—3 January 2012; PPL 80/2485 valid 22 December 2011—3 January 2017 Funding Information: Research reported in this publication was supported by: Agence Nationale de la Recherche (ANR-10-IDEX-0002-02, ANR-10-INBS-07 PHENOMIN to Y.H.); Centre Europ{\'e}en de Recherche en Biologie et en M{\'e}decine (Y.H.); European Commission (EUMODIC contract no. LSHG-CT-2006-037918 to G.P.T.-V, W.W., M.H.d.A., K.L.S., K.P.S. and S.D.M.B.); French National Institute of Health and Medical Research— INSERM (Y.H.); Government of Canada through Genome Canada and Ontario Genomics (OGI-051 to C.M. and S.D.M.B.); Medical Research Council (53650 to S.W. and S.D.M.B.) (G0300212 and MC_qA137918 to K.P.S.) (MC_U142684175 and MC_U142684172 to S.D.M.B.); National Centre for Scientific Research—CNRS (Y.H.); National Institutes of Health (U42OD011185 to S.A.M.) (UM1OD023222 to S.A.M., K.L.S. and R.E.B.) (U54HG006332 to K.L.S. and R.E.B.) (U42OD011175, U54HG006364, 3U54HG006364-03S1 and UM1OD023221 to K.C.K.L. and C.M.) (U54HG006348 and 2UM1HG006348 to A.B., S.W. and S.D.M.B.) (U54HG006370 and 2UM1HG006370 to W.C.S., T.F.M., P.F., A.-M.M., H.E.P., D.S. and S.D.M.B.); Wellcome Trust (098051 and 100699 to K.P.S.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Publisher Copyright: {\textcopyright} 2017 The Author(s).",

year = "2017",

month = dec,

day = "1",

doi = "10.1038/s41467-017-00595-4",

language = "English",

volume = "8",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

number = "1",

}

Bowl, MR, Simon, MM, Ingham, NJ, Greenaway, S, Santos, L, Cater, H, Taylor, S, Mason, J, Kurbatova, N, Pearson, S, Bower, LR, Clary, DA, Meziane, H, Reilly, P, Minowa, O, Kelsey, L, Allen, S, Clementson-Mobbs, S, Codner, G, Fray, M, Gardiner, W, Joynson, R, Kenyon, J, Loeffler, J, Nell, B, Parker, A, Quwailid, D, Stewart, M, Walling, A, Zaman, R, Chen, CK, Conte, N, Matthews, P, Relac, M, Tudose, I, Warren, J, Le Marchand, E, El Amri, A, El Fertak, L, Ennah, H, Ali-Hadji, D, Ayadi, A, Wattenhofer-Donze, M, Moulaert, D, Jacquot, S, André, P, Birling, MC, Pavlovic, G, Lalanne, V, Lux, A, Riet, F, Mittelhaeuser, C, Bour, R, Guimond, A, Bam'Hamed, C, Leblanc, S, Vasseur, L, Selloum, M, Sorg, T, Ayabe, S, Furuse, T, Kaneda, H, Kobayashi, K, Masuya, H, Miura, I, Obata, Y, Suzuki, T, Tamura, M, Tanaka, N, Yamada, I, Yoshiki, A, Berberovic, Z, Bubshait, M, Cabezas, J, Carroll, T, Clark, G, Clarke, S, Creighton, A, Danisment, O, Eskandarian, M, Feugas, P, Gertsenstein, M, Guo, R, Hunter, J, Jacob, E, Lan, Q, Laurin, V, Law, N, MacMaster, S, Miller, D, Morikawa, L, Newbigging, S, Owen, C, Penton, P, Pereira, M, Qu, D, Shang, X, Sleep, G, Sohel, K, Tondat, S, Wang, Y, Vukobradovic, I, Zhu, Y, Chiani, F, Di Pietro, C, Di Segni, G, Ermakova, O, Ferrara, F, Fruscoloni, P, Gambadoro, A, Gastaldi, S, Golini, E, Sala, GL, Mandillo, S, Marazziti, D, Massimi, M, Matteoni, R, Orsini, T, Pasquini, M, Raspa, M, Rauch, A, Rossi, G, Rossi, N, Putti, S, Scavizzi, F, Tocchini-Valentini, GD, Beig, J, Bürger, A, Giesert, F, Graw, J, Kühn, R, Oritz, O, Schick, J, Seisenberger, C, Amarie, O, Garrett, L, Hölter, SM, Zimprich, A, Aguilar-Pimentel, 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, MA, Rozman, J, Steinkamp, R, Stoeger, C, Treise, I, Stoeger, T, Yildrim, AÖ, Eickelberg, O, Becker, L, Klopstock, T, Ollert, M, Busch, DH, Schmidt-Weber, C, Bekeredjian, R, Zimmer, A, Rathkolb, B, Wolf, E, Klingenspor, M, Tocchini-Valentini, GP, Gao, X, Bradley, A, Skarnes, WC, Moore, M, Beaudet, AL, Justice, MJ, Seavitt, J, Dickinson, ME, Wurst, W, De Angelis, MH, Herault, Y, Wakana, S, Nutter, LMJ, Flenniken, AM, McKerlie, C, Murray, SA, Svenson, KL, Braun, RE, West, DB, Lloyd, KCK, Adams, DJ, White, J, Karp, N, Flicek, P, Smedley, D, Meehan, TF, Parkinson, HE, Teboul, LM, Wells, S, Steel, KP, Mallon, AM & Brown, SDM 2017, 'A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction', Nature Communications, vol. 8, no. 1, 886. https://doi.org/10.1038/s41467-017-00595-4

TY - JOUR

T1 - A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

AU - Bowl, Michael R.

AU - Simon, Michelle M.

AU - Ingham, Neil J.

AU - Greenaway, Simon

AU - Santos, Luis

AU - Cater, Heather

AU - Taylor, Sarah

AU - Mason, Jeremy

AU - Kurbatova, Natalja

AU - Pearson, Selina

AU - Bower, Lynette R.

AU - Clary, Dave A.

AU - Meziane, Hamid

AU - Reilly, Patrick

AU - Minowa, Osamu

AU - Kelsey, Lois

AU - Allen, Sue

AU - Clementson-Mobbs, Sharon

AU - Codner, Gemma

AU - Fray, Martin

AU - Gardiner, Wendy

AU - Joynson, Russell

AU - Kenyon, Janet

AU - Loeffler, Jorik

AU - Nell, Barbara

AU - Parker, Andrew

AU - Quwailid, Deen

AU - Stewart, Michelle

AU - Walling, Alison

AU - Zaman, Rumana

AU - Chen, Chao Kung

AU - Conte, Nathalie

AU - Matthews, Peter

AU - Relac, Mike

AU - Tudose, Ilinca

AU - Warren, Jonathan

AU - Le Marchand, Elise

AU - El Amri, Amal

AU - El Fertak, Leila

AU - Ennah, Hamid

AU - Ali-Hadji, Dalila

AU - Ayadi, Abdel

AU - Wattenhofer-Donze, Marie

AU - Moulaert, David

AU - Jacquot, Sylvie

AU - André, Philippe

AU - Birling, Marie Christine

AU - Pavlovic, Guillaume

AU - Lalanne, Valérie

AU - Lux, Aline

AU - Riet, Fabrice

AU - Mittelhaeuser, Christophe

AU - Bour, Raphael

AU - Guimond, Alain

AU - Bam'Hamed, Chaouki

AU - Leblanc, Sophie

AU - Vasseur, Laurent

AU - Selloum, Mohammed

AU - Sorg, Tania

AU - Ayabe, Shinya

AU - Furuse, Tamio

AU - Kaneda, Hideki

AU - Kobayashi, Kimio

AU - Masuya, Hiroshi

AU - Miura, Ikuo

AU - Obata, Yuichi

AU - Suzuki, Tomohiro

AU - Tamura, Masaru

AU - Tanaka, Nobuhiko

AU - Yamada, Ikuko

AU - Yoshiki, Atsushi

AU - Berberovic, Zorana

AU - Bubshait, Mohammed

AU - Cabezas, Jorge

AU - Carroll, Tracy

AU - Clark, Greg

AU - Clarke, Shannon

AU - Creighton, Amie

AU - Danisment, Ozge

AU - Eskandarian, Mohammad

AU - Feugas, Patricia

AU - Gertsenstein, Marina

AU - Guo, Ruolin

AU - Hunter, Jane

AU - Jacob, Elsa

AU - Lan, Qing

AU - Laurin, Valerie

AU - Law, Napoleon

AU - MacMaster, Sue

AU - Miller, David

AU - Morikawa, Lily

AU - Newbigging, Susan

AU - Owen, Celeste

AU - Penton, Patricia

AU - Pereira, Monica

AU - Qu, Dawei

AU - Shang, Xueyuan

AU - Sleep, Gillian

AU - Sohel, Khondoker

AU - Tondat, Sandra

AU - Wang, Yanchun

AU - Vukobradovic, Igor

AU - Zhu, Yingchun

AU - Chiani, Francesco

AU - Di Pietro, Chiara

AU - Di Segni, Gianfranco

AU - Ermakova, Olga

AU - Ferrara, Filomena

AU - Fruscoloni, Paolo

AU - Gambadoro, Aalessia

AU - Gastaldi, Serena

AU - Golini, Elisabetta

AU - Sala, Gina La

AU - Mandillo, Silvia

AU - Marazziti, Daniela

AU - Massimi, Marzia

AU - Matteoni, Rafaele

AU - Orsini, Tiziana

AU - Pasquini, Miriam

AU - Raspa, Marcello

AU - Rauch, Aline

AU - Rossi, Gianfranco

AU - Rossi, Nicoletta

AU - Putti, Sabrina

AU - Scavizzi, Ferdinando

AU - Tocchini-Valentini, Giuseppe D.

AU - Beig, Joachim

AU - Bürger, Antje

AU - Giesert, Florian

AU - Graw, Jochen

AU - Kühn, Ralf

AU - Oritz, Oskar

AU - Schick, Joel

AU - Seisenberger, Claudia

AU - Amarie, Oana

AU - Garrett, Lillian

AU - Hölter, Sabine M.

AU - Zimprich, Annemarie

AU - Aguilar-Pimentel, Antonio

AU - Beckers, Johannes

AU - Brommage, Robert

AU - Calzada-Wack, Julia

AU - Fuchs, Helmut

AU - Gailus-Durner, Valérie

AU - Lengger, Christoph

AU - Leuchtenberger, Stefanie

AU - Maier, Holger

AU - Marschall, Susan

AU - Moreth, Kristin

AU - Neff, Frauke

AU - Östereicher, Manuela A.

AU - Rozman, Jan

AU - Steinkamp, Ralph

AU - Stoeger, Claudia

AU - Treise, Irina

AU - Stoeger, Tobias

AU - Yildrim, Ali Önder

AU - Eickelberg, Oliver

AU - Becker, Lore

AU - Klopstock, Thomas

AU - Ollert, Markus

AU - Busch, Dirk H.

AU - Schmidt-Weber, Carsten

AU - Bekeredjian, Raffi

AU - Zimmer, Andreas

AU - Rathkolb, Birgit

AU - Wolf, Eckhard

AU - Klingenspor, Martin

AU - Tocchini-Valentini, Glauco P.

AU - Gao, Xiang

AU - Bradley, Allan

AU - Skarnes, William C.

AU - Moore, Mark

AU - Beaudet, Arthur L.

AU - Justice, Monica J.

AU - Seavitt, John

AU - Dickinson, Mary E.

AU - Wurst, Wolfgang

AU - De Angelis, Martin Hrabe

AU - Herault, Yann

AU - Wakana, Shigeharu

AU - Nutter, Lauryl M.J.

AU - Flenniken, Ann M.

AU - McKerlie, Colin

AU - Murray, Stephen A.

AU - Svenson, Karen L.

AU - Braun, Robert E.

AU - West, David B.

AU - Lloyd, K. C.Kent

AU - Adams, David J.

AU - White, Jacqui

AU - Karp, Natasha

AU - Flicek, Paul

AU - Smedley, Damian

AU - Meehan, Terrence F.

AU - Parkinson, Helen E.

AU - Teboul, Lydia M.

AU - Wells, Sara

AU - Steel, Karen P.

AU - Mallon, Ann Marie

AU - Brown, Steve D.M.

N1 - Funding Information: Approval Licence: Approval Number: Exp14—010 Research title: Collection, maintenance, storage, breeding and distribution of the mouse strains for the Biological Resource Approval committee: The Jackson Laboratory Institutional Animal Care and Use Committee (IACUC) Approval Licence: Institutional Permit: NIH Office of Laboratory Animal Welfare (OLAW) # A3268-01 OLAW Assurance # 811101 Production Grant IACUC Protocol: 99066 Phenotyping grant Animal Use Summary IACUC protocol 11005 Approval committee: Animal Care Committee (ACC) of The Centre for Phenogenomics Approval Licence: Animal Use Protocol (AUP) 0153, 0275, 0277, 0279 Approval committee: UC Davis Institutional Animal Care and Use Committee (IACUC) Approval Licence: Protocol #18119 Approval committee: Animal Welfare and Ethical Review Body (AWERB) Approval Licence: PPL 80/2076 Valid 27 November 2006—3 January 2012; PPL 80/2485 valid 22 December 2011—3 January 2017 Funding Information: Research reported in this publication was supported by: Agence Nationale de la Recherche (ANR-10-IDEX-0002-02, ANR-10-INBS-07 PHENOMIN to Y.H.); Centre Européen de Recherche en Biologie et en Médecine (Y.H.); European Commission (EUMODIC contract no. LSHG-CT-2006-037918 to G.P.T.-V, W.W., M.H.d.A., K.L.S., K.P.S. and S.D.M.B.); French National Institute of Health and Medical Research— INSERM (Y.H.); Government of Canada through Genome Canada and Ontario Genomics (OGI-051 to C.M. and S.D.M.B.); Medical Research Council (53650 to S.W. and S.D.M.B.) (G0300212 and MC_qA137918 to K.P.S.) (MC_U142684175 and MC_U142684172 to S.D.M.B.); National Centre for Scientific Research—CNRS (Y.H.); National Institutes of Health (U42OD011185 to S.A.M.) (UM1OD023222 to S.A.M., K.L.S. and R.E.B.) (U54HG006332 to K.L.S. and R.E.B.) (U42OD011175, U54HG006364, 3U54HG006364-03S1 and UM1OD023221 to K.C.K.L. and C.M.) (U54HG006348 and 2UM1HG006348 to A.B., S.W. and S.D.M.B.) (U54HG006370 and 2UM1HG006370 to W.C.S., T.F.M., P.F., A.-M.M., H.E.P., D.S. and S.D.M.B.); Wellcome Trust (098051 and 100699 to K.P.S.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Publisher Copyright: © 2017 The Author(s).

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85031311476&partnerID=8YFLogxK

UR - https://pubmed.ncbi.nlm.nih.gov/29026089

U2 - 10.1038/s41467-017-00595-4

DO - 10.1038/s41467-017-00595-4

M3 - Article

C2 - 29026089

AN - SCOPUS:85031311476

SN - 2041-1723

VL - 8

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 886

ER -

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

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