Mutation of a gene encoding a protein with extracellular matrix motifs in usher syndrome type IIa
Mutation of a gene encoding a protein with extracellular matrix motifs in usher syndrome type IIa
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DOI：
10.1126/science.280.5370.1753
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发表时间：
1998-06-12
期刊：
影响因子：
56.9
通讯作者：
Sumegi, J
中科院分区：
文献类型：
--
作者：
Eudy, JD;Weston, MD;Sumegi, J
Usher综合征IIa型（OMIM 276901）是一种常染色体隐性遗传疾病，以中度至重度感音神经性听力损失和进行性视网膜色素变性为特征，定位于人类染色体1 q41长臂标记AFM 268 ZD 1和AFM 144 XF 2之间。在Usher综合征IIa型患者中，从这个关键区域分离的基因（USH 2A）中发现了三个生物学上重要的突变。USH 2A基因编码一种蛋白质，其预测大小为171.5千道尔顿，具有层粘连蛋白表皮生长因子和纤连蛋白III型基序;这些基序最常见于包含基底层和细胞外基质组分的蛋白质以及细胞粘附分子中。
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.