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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
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Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia

机译：人肌球蛋白VIIA负责Usher 1B综合征：在发育的感觉上皮细胞中表达的预测膜相关运动蛋白

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摘要

The gene encoding human myosin VIIA is responsible for Usher syndrome type 1B (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. The recon- stituted cDNA sequence presented here predicts a 2215 amino acid protein with a typical unconventional myosin structure. This protein is expected to dimerize into a two-headed mol- cule. The C terminus of its tail shares homology with the membrane-binding domain of the band 4.1 protein superfamily. The gene consists of 48 coding exons. It encodes several alternatively spliced forms In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process. In addi- tion, the gene is expressed in the human embryonic cochlear and vestibular neuroepithelia. We suggest that deafness and vestibular dysfunction in USH1B patients result from a defect in the morphogenesis of the inner ear sensory cell stereocilia.
机译：编码人肌球蛋白VIIA的基因导致1her型综合征1B（USH1B），该疾病与严重的先天性感音神经性耳聋，前庭功能障碍和色素性视网膜炎有关。此处显示的重组cDNA序列预测了具有典型非常规肌球蛋白结构的2215个氨基酸蛋白。该蛋白有望二聚为双头分子。其尾部的C末端与4.1带蛋白超家族的膜结合结构域具有同源性。该基因由48个编码外显子组成。它编码几种交替的剪接形式。在人类胚胎中的原位杂交分析表明，肌球蛋白VIIA基因在色素上皮和视网膜的感光细胞中表达，因此表明这两种细胞类型都可能参与了USH1B视网膜的变性过程。此外，该基因在人类胚胎的耳蜗和前庭神经上皮细胞中表达。我们建议USH1B患者耳聋和前庭功能障碍是由内耳感觉细胞立体纤毛的形态发生缺陷引起的。

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