一项大规模听力损失筛查揭示了听觉功能障碍方面广泛未被探索的基因图谱。
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
作者信息
Bowl Michael R, Simon Michelle M, Ingham Neil J, Greenaway Simon, Santos Luis, Cater Heather, Taylor Sarah, Mason Jeremy, Kurbatova Natalja, Pearson Selina, Bower Lynette R, Clary Dave A, Meziane Hamid, Reilly Patrick, Minowa Osamu, Kelsey Lois, Tocchini-Valentini Glauco P, Gao Xiang, Bradley Allan, Skarnes William C, Moore Mark, Beaudet Arthur L, Justice Monica J, Seavitt John, Dickinson Mary E, Wurst Wolfgang, de Angelis Martin Hrabe, Herault Yann, Wakana Shigeharu, Nutter Lauryl M J, Flenniken Ann M, McKerlie Colin, Murray Stephen A, Svenson Karen L, Braun Robert E, West David B, Lloyd K C Kent, Adams David J, White Jacqui, Karp Natasha, Flicek Paul, Smedley Damian, Meehan Terrence F, Parkinson Helen E, Teboul Lydia M, Wells Sara, Steel Karen P, Mallon Ann-Marie, Brown Steve D M
机构信息
Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
King's College London, London, SE1 1UL, UK.
出版信息
Nat Commun. 2017 Oct 12;8(1):886. doi: 10.1038/s41467-017-00595-4.
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.
听觉系统的发育和生理复杂性可能反映在参与听觉功能的一组潜在基因中。在人类中，已鉴定出150多个非综合征性基因座，并且有400多种具有听力损失成分的人类遗传综合征。在小鼠和人类中已鉴定出100多个非综合征性听力损失基因，但我们对涉及听觉功能障碍的遗传图谱的全貌仍然一无所知。作为国际小鼠表型分析联盟的一部分，我们对3006个小鼠基因敲除品系进行了听力损失筛查。我们总共鉴定出67个候选听力损失基因。我们检测到了已知的听力损失基因，但绝大多数（52个）候选基因是新发现的。我们的分析揭示了与听觉功能相关的一个庞大且未被探索的遗传图谱。听力障碍的遗传基础的全貌尚不清楚。在此，作为国际小鼠表型分析联盟的一部分，作者对3006个小鼠基因敲除品系进行了听力损失筛查，并鉴定出52个新的遗传性听力损失候选基因。
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