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非常规肌球蛋白与听力损失遗传学

Unconventional myosins and the genetics of hearing loss.

作者信息

Friedman T B, Sellers J R, Avraham K B

机构信息

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, MD 20854, USA.

出版信息

Am J Med Genet. 1999 Sep 24;89(3):147-57. doi: 10.1002/(sici)1096-8628(19990924)89:3<147::aid-ajmg5>3.0.co;2-6.

Abstract

Mutations of the unconventional myosins genes encoding myosin VI, myosin VIIA and myosin XV cause hearing loss and thus these motor proteins perform fundamental functions in the auditory system. A null mutation in myosin VI in the congenitally deaf Snell's waltzer mice (Myo6(sv)) results in fusion of stereocilia and subsequent progressive loss of hair cells, beginning soon after birth, thus reinforcing the vital role of cytoskeletal proteins in inner ear hair cells. To date, there are no human families segregating hereditary hearing loss that show linkage to MYO6 on chromosome 6q13. The discovery that the mouse shaker1 (Myo7(ash1)) locus encodes myosin VIIA led immediately to the identification of mutations in this gene in Usher syndrome type 1B; subsequently, mutations in this gene were also found associated with recessive and dominant nonsyndromic hearing loss (DFNB2 and DFNA11). Stereocilla of sh1 mice are severely disorganized, and eventually degenerate as well. Myosin VIIA has been implicated in membrane trafficking and/or endocytosis in the inner ear. Mutant alleles of a third unconventional myosin, myosin XV, are associated with nonsyndromic, recessive, congenital deafness DFNB3 on human chromosome 17p11.2 and deafness in shaker2 (Myo15(sh2)) mice. In outer and inner hair cells, myosin XV protein is detectable in the cell body and stereocilia. Hair cells are present in homozygous sh2 mutant mice, but the stereocilia are approximately 1/10 of the normal length. This review focuses on what we know about the molecular genetics and biochemistry of myosins VI, VIIA and XV as relates to hereditary hearing loss. Am. J. Med. Genet. (Semin. Med. Genet.) 89:147-157, 1999. Published 2000 Wiley-Liss, Inc.

摘要

编码肌球蛋白VI、肌球蛋白VIIA和肌球蛋白XV的非常规肌球蛋白基因突变会导致听力丧失,因此这些运动蛋白在听觉系统中发挥着重要作用。先天性耳聋的斯内尔跳鼠(Myo6(sv))中肌球蛋白VI的无效突变会导致静纤毛融合,随后毛细胞逐渐丧失,出生后不久就开始出现这种情况,从而进一步证明了细胞骨架蛋白在内耳毛细胞中的重要作用。迄今为止,尚无人类家族遗传性听力丧失与6号染色体6q13上的MYO6存在连锁关系。小鼠震颤1(Myo7(ash1))基因座编码肌球蛋白VIIA这一发现,立刻促使人们在1B型Usher综合征中鉴定出该基因的突变;随后,还发现该基因的突变与隐性和显性非综合征性听力丧失(DFNB2和DFNA11)有关。sh1小鼠的静纤毛严重紊乱,最终也会退化。肌球蛋白VIIA与内耳的膜转运和/或内吞作用有关。第三种非常规肌球蛋白肌球蛋白XV的突变等位基因与人类染色体17p11.2上的非综合征性隐性先天性耳聋DFNB3以及震颤2(Myo15(sh2))小鼠的耳聋有关。在外毛细胞和内毛细胞中,肌球蛋白XV蛋白可在细胞体和静纤毛中检测到。纯合sh2突变小鼠中有毛细胞存在,但静纤毛长度约为正常长度的1/10。本综述重点关注我们所了解的与遗传性听力丧失相关的肌球蛋白VI、VIIA和XV的分子遗传学和生物化学知识。《美国医学遗传学杂志》(医学遗传学研讨会)89:147 - 157,1999年。2000年由威利 - 利斯公司出版。

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