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致聋基因KIAA1199在灵长类动物耳蜗中的独特表达模式。

Distinct Expression Pattern of a Deafness Gene, KIAA1199, in a Primate Cochlea.

作者信息

Hosoya Makoto, Fujioka Masato, Okano Hideyuki, Ogawa Kaoru

机构信息

Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.

Department of Physiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.

出版信息

Biomed Res Int. 2016;2016:1781894. doi: 10.1155/2016/1781894. Epub 2016 Jun 14.

DOI:10.1155/2016/1781894
PMID:27403418
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4923552/
Abstract

Deafness is one of the most common types of congenital impairments, and at least half of the cases are caused by hereditary mutations. Mutations of the gene KIAA1199 are associated with progressive hearing loss. Its expression is abundant in human cochlea, but interestingly the spatial expression patterns are different between mouse and rat cochleae; the pattern in humans has not been fully investigated. We performed immunohistochemical analysis of a nonhuman primate, common marmoset (Callithrix jacchus), cochlea with a KIAA1199-specific antibody. In the common marmoset cochlea, KIAA1199 protein expression was more widespread than in rodents, with all epithelial cells, including hair cells, expressing KIAA1199. Our results suggest that the primate pattern of KIAA1199 expression is wider in comparison with rodents and may play an essential role in the maintenance of cochlear epithelial cells.

摘要

耳聋是最常见的先天性缺陷类型之一,至少一半的病例是由遗传突变引起的。基因KIAA1199的突变与进行性听力损失有关。它在人类耳蜗中表达丰富,但有趣的是,小鼠和大鼠耳蜗中的空间表达模式不同;人类的这种模式尚未得到充分研究。我们用KIAA1199特异性抗体对普通狨猴(Callithrix jacchus)这一非人类灵长类动物的耳蜗进行了免疫组织化学分析。在普通狨猴耳蜗中,KIAA1199蛋白的表达比啮齿动物更广泛,包括毛细胞在内的所有上皮细胞都表达KIAA1199。我们的结果表明,与啮齿动物相比,KIAA1199在灵长类动物中的表达模式更广泛,可能在维持耳蜗上皮细胞中起重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/75a7a1d3bb30/BMRI2016-1781894.006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/365a2e01cebd/BMRI2016-1781894.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/fa504b8ae078/BMRI2016-1781894.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/0c046ae01ca5/BMRI2016-1781894.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/772666703ea4/BMRI2016-1781894.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/0d5dba661356/BMRI2016-1781894.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/75a7a1d3bb30/BMRI2016-1781894.006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/365a2e01cebd/BMRI2016-1781894.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/fa504b8ae078/BMRI2016-1781894.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/0c046ae01ca5/BMRI2016-1781894.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/772666703ea4/BMRI2016-1781894.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/0d5dba661356/BMRI2016-1781894.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3ea/4923552/75a7a1d3bb30/BMRI2016-1781894.006.jpg

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