A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
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DOI：
10.1038/s41467-017-00595-4
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发表时间：
2017-10-12
影响因子：
16.6
通讯作者：
Brown SDM
中科院分区：
文献类型：
--
作者：
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;International Mouse Phenotyping Consortium;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
听觉系统的发育和生理复杂性可能反映在听觉功能相关的一组潜在基因中。在人类中，已经确定了150多个非综合征基因座，并且有400多个人类遗传综合征与听力损失成分有关。在小鼠和人类中已经发现了超过100种非综合征性听力损失基因，但我们仍然不了解与听力功能障碍有关的遗传景观的全部范围。作为国际小鼠表型联盟的一部分，我们对3006只小鼠基因敲除菌株进行了听力损失筛查。我们总共确定了67个候选听力损失基因。我们检测了已知的听力损失基因，但绝大多数，52个候选基因是新的。我们的分析揭示了与听觉功能有关的一个巨大而未被探索的基因景观。听力障碍的全部遗传基础尚不清楚。在这里，作为国际小鼠表型联盟的一部分，作者对3006个小鼠敲除菌株进行了听力损失筛查，并确定了52个新的遗传性听力损失候选基因。
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. 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.
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影响因子：
64.8
作者：
Skarnes WC;Rosen B;West AP;Koutsourakis M;Bushell W;Iyer V;Mujica AO;Thomas M;Harrow J;Cox T;Jackson D;Severin J;Biggs P;Fu J;Nefedov M;de Jong PJ;Stewart AF;Bradley A
通讯作者：
Bradley A
影响因子：
14.9
作者：
Reimand J;Arak T;Adler P;Kolberg L;Reisberg S;Peterson H;Vilo J
通讯作者：
Vilo J
影响因子：
3.7
作者：
Johnson KR;Longo-Guess CM;Gagnon LH
通讯作者：
Gagnon LH
影响因子：
64.8
作者：
Dickinson ME;Flenniken AM;Ji X;Teboul L;Wong MD;White JK;Meehan TF;Weninger WJ;Westerberg H;Adissu H;Baker CN;Bower L;Brown JM;Caddle LB;Chiani F;Clary D;Cleak J;Daly MJ;Denegre JM;Doe B;Dolan ME;Edie SM;Fuchs H;Gailus-Durner V;Galli A;Gambadoro A;Gallegos J;Guo S;Horner NR;Hsu CW;Johnson SJ;Kalaga S;Keith LC;Lanoue L;Lawson TN;Lek M;Mark M;Marschall S;Mason J;McElwee ML;Newbigging S;Nutter LM;Peterson KA;Ramirez-Solis R;Rowland DJ;Ryder E;Samocha KE;Seavitt JR;Selloum M;Szoke-Kovacs Z;Tamura M;Trainor AG;Tudose I;Wakana S;Warren J;Wendling O;West DB;Wong L;Yoshiki A;International Mouse Phenotyping Consortium;Jackson Laboratory;Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS);Charles River Laboratories;MRC Harwell;Toronto Centre for Phenogenomics;Wellcome Trust Sanger Institute;RIKEN BioResource Center;MacArthur DG;Tocchini-Valentini GP;Gao X;Flicek P;Bradley A;Skarnes WC;Justice MJ;Parkinson HE;Moore M;Wells S;Braun RE;Svenson KL;de Angelis MH;Herault Y;Mohun T;Mallon AM;Henkelman RM;Brown SD;Adams DJ;Lloyd KC;McKerlie C;Beaudet AL;Bućan M;Murray SA
通讯作者：
Murray SA
影响因子：
64.8
作者：
GIBSON, F;WALSH, J;BROWN, SDM
通讯作者：
BROWN, SDM