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A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
- Source :
- Nat. Commun. 8:886 (2017), Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017), Nature Communications, 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, Fray, M, Gardiner, W, Joynson, R, Kenyon, J, Loeffler, J, Nell, B, Parker, A, Quwailid, D, Stewart, M, Walling, A, Zaman, R, Chen, C K, 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, M C, 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, G L, 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, G D, Beig, J, Bürger, A, Giesert, F, Graw, J, Kühn, R, Oritz, O, Schick, J, Seisenberger, C, Amarie, O, Garrett, L, Hölter, S M, 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, M A, Rozman, J, Steinkamp, R, Stoeger, C, Treise, I, Stoeger, T, Yildrim, A Ö, Eickelberg, O, Becker, L, Klopstock, T, Ollert, M, Busch, D H, Schmidt-Weber, C, Bekeredjian, R, Zimmer, A, Rathkolb, B, Wolf, E, Klingenspor, M, Tocchini-Valentini, G P, Gao, X, Bradley, A, Skarnes, W C, Moore, M, Beaudet, A L, Justice, M J, Seavitt, J, Dickinson, M E, Wurst, W, De Angelis, M H, 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, Lloyd, K C K, Adams, D J, White, J, Karp, N, Flicek, P, Smedley, D, Meehan, T F, Parkinson, H E, Teboul, L M, Wells, S, Steel, K P, Mallon, A M & Brown, S D M 2017, ' A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction ', Nature Communications, vol. 8, 886 . https://doi.org/10.1038/s41467-017-00595-4, Nature communications, vol 8, iss 1
- Publication Year :
- 2017
- Publisher :
- Nature Publishing Group, 2017.
-
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.<br />The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss.
- Subjects :
- 0301 basic medicine
Cancer Research
Candidate gene
General Physics and Astronomy
Datasets as Topic
Mice
2.1 Biological and endogenous factors
Protein Interaction Maps
Aetiology
lcsh:Science
Pediatric
Genetics
Mice, Knockout
Multidisciplinary
medicine.diagnostic_test
Hearing Tests
Ear
Phenotype
medicine.anatomical_structure
Technology Platforms
International Mouse Phenotyping Consortium
medicine.symptom
Biotechnology
Hearing Loss/epidemiology
Hearing loss
Knockout
1.1 Normal biological development and functioning
Science
Biology
General Biochemistry, Genetics and Molecular Biology
Article
03 medical and health sciences
Clinical Research
Underpinning research
medicine
otorhinolaryngologic diseases
Auditory system
Animals
Genetic Testing
IMPC
mouse
auditory dysfunction
Set (psychology)
Hearing Loss
Gene
Genetic testing
Auditory dysfunction
Human Genome
General Chemistry
030104 developmental biology
Protein Interaction Maps/genetics
lcsh:Q
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Nat. Commun. 8:886 (2017), Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017), Nature Communications, 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, Fray, M, Gardiner, W, Joynson, R, Kenyon, J, Loeffler, J, Nell, B, Parker, A, Quwailid, D, Stewart, M, Walling, A, Zaman, R, Chen, C K, 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, M C, 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, G L, 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, G D, Beig, J, Bürger, A, Giesert, F, Graw, J, Kühn, R, Oritz, O, Schick, J, Seisenberger, C, Amarie, O, Garrett, L, Hölter, S M, 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, M A, Rozman, J, Steinkamp, R, Stoeger, C, Treise, I, Stoeger, T, Yildrim, A Ö, Eickelberg, O, Becker, L, Klopstock, T, Ollert, M, Busch, D H, Schmidt-Weber, C, Bekeredjian, R, Zimmer, A, Rathkolb, B, Wolf, E, Klingenspor, M, Tocchini-Valentini, G P, Gao, X, Bradley, A, Skarnes, W C, Moore, M, Beaudet, A L, Justice, M J, Seavitt, J, Dickinson, M E, Wurst, W, De Angelis, M H, 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, Lloyd, K C K, Adams, D J, White, J, Karp, N, Flicek, P, Smedley, D, Meehan, T F, Parkinson, H E, Teboul, L M, Wells, S, Steel, K P, Mallon, A M & Brown, S D M 2017, ' A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction ', Nature Communications, vol. 8, 886 . https://doi.org/10.1038/s41467-017-00595-4, Nature communications, vol 8, iss 1
- Accession number :
- edsair.doi.dedup.....7f77ae2af84f093286e7804c4a997406
- Full Text :
- https://doi.org/10.1038/s41467-017-00595-4