Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
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DOI：
10.1126/science.280.5368.1447
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发表时间：
1998-05-29
期刊：
影响因子：
56.9
通讯作者：
Friedman, TB
中科院分区：
文献类型：
--
作者：
Wang, AH;Liang, Y;Friedman, TB
DFNB3是一个非综合征性感音神经性隐性耳聋的基因座，位于人类染色体17p11.2上一个3厘米的区间，该区域与小鼠Shaker-2显示保守的同源性。在寻找Shaker-2和DFNB3的过程中，通过功能克隆和位置克隆相结合的方法鉴定了一个非常规的人肌球蛋白基因MYO15。MYO15至少有50个外显子，跨越36个碱基。对来自三个无关DFNB3家系的患者的这些外显子进行了序列分析，发现两个错义突变和一个无义突变与先天性隐性耳聋共分离。
DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2. A human unconventional myosin gene, MYO15, was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3. MYO15 has at least 50 exons spanning 36 kilobases. Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.