Inheritance patterns of progressive hearing loss in laboratory strains of mice.
Inheritance patterns of progressive hearing loss in laboratory strains of mice.
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DOI：
10.1016/j.brainres.2009.02.012
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发表时间：
2009-06-24
期刊：
影响因子：
2.9
通讯作者：
Johnson KR
中科院分区：
文献类型：
--
作者：
Noben-Trauth K;Johnson KR
小鼠耳聋突变的定位克隆发现了大量在外周听觉系统中具有重要功能的蛋白质，特别是在耳蜗器官Corti和血管纹中。这些突变体中的大多数遵循单基因遗传形式，并且是罕见的、高度外显的和有害的等位基因。与此相反，近交系和异源系的小鼠由于多个基因和通常以非孟德尔方式传播的亚型和较少渗透的等位基因的影响而呈现非综合征性听力损伤。在这里，我们回顾了听力损失的遗传模式，因为它们被发现在不同品系的小鼠和讨论的候选基因的相关性迟发性进行性听力障碍的小鼠和人类。
Positional cloning of mouse deafness mutations uncovered a plethora of proteins that have important functions in the peripheral auditory system in particular in the cochlear organ of Corti and stria vascularis. Most of these mutant variants follow a monogenic form of inheritance and are rare, highly penetrant, and deleterious alleles. Inbred and heterogenous strains of mice, in contrast, present with non-syndromic hearing impairment due to the effects of multiple genes and hypomorphic and less penetrant alleles that are often transmitted in a non-Mendelian manner. Here we review hearing loss inheritance patterns as they were discovered in different strains of mice and discuss the relevance of candidate genes to late-onset progressive hearing impairment in mouse and human.
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