MYO6是Snell华尔兹小鼠致聋基因的人类同源物，在常染色体显性非综合征性听力损失中发生突变。
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
作者信息
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones M L, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham K B, Gasparini P
机构信息
Servizio Genetica Medica, Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale "Casa Sollievo Sofferenza," I-71013 San Giovanni Rotondo, Italy.
出版信息
Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20.
Abstract
Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD), and the subsequent identification of a missense mutation in the MYO6 gene in all members of the family with hearing loss.
摘要
非传统肌球蛋白VI基因（Myo6）的突变与斯内尔跳鼠（sv）小鼠的耳聋和前庭功能障碍有关。相应的人类基因MYO6位于6号染色体的q13区域。我们描述了一个受非综合征性显性耳聋（NSAD）影响的家族中，一个新的耳聋基因座DFNA22在6号染色体q13上的定位，以及随后在该家族所有听力损失成员中鉴定出MYO6基因的一个错义突变。
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MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.MYO6是Snell华尔兹小鼠致聋基因的人类同源物，在常染色体显性非综合征性听力损失中发生突变。
Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20.
2
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ConSurf: an algorithmic tool for the identification of functional regions in proteins by surface mapping of phylogenetic information.ConSurf：一种通过系统发育信息的表面映射来识别蛋白质功能区域的算法工具。
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Myosin VI is required for asymmetric segregation of cellular components during C. elegans spermatogenesis.在秀丽隐杆线虫精子发生过程中，细胞成分的不对称分离需要肌球蛋白VI。
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