标题:Alternative splicing of inner-ear-expressed genes
作者:Wang, Yanfei; Liu, Yueyue; Nie, Hongyun; Ma, Xin; Xu, Zhigang
作者机构:[Wang, Y] Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, School of Life Sciences, Shandong University, Jinan, 250100, C 更多
通讯作者:Xu, Z(xuzg@sdu.edu.cn)
通讯作者地址:[Xu, ZG]Shandong Univ, Sch Life Sci, Shandong Prov Key Lab Anim Cells & Dev Biol, Jinan 250100, Peoples R China.
来源:医学前沿
出版年:2016
卷:10
期:3
页码:250-257
DOI:10.1007/s11684-016-0454-y
关键词:alternative splicing;inner ear;hearing loss;hair cells
摘要:Alternative splicing plays a fundamental role in the development and physiological function of the inner ear. Inner-ear-specific gene splicing is necessary to establish the identity and maintain the function of the inner ear. For example, exon 68 of Cadherin 23 (Cdh23) gene is subject to inner-ear-specific alternative splicing, and as a result, Cdh23(+ 68) is only expressed in inner ear hair cells. Alternative splicing along the tonotopic axis of the cochlea contributes to frequency tuning, particularly in lower vertebrates, such as chickens and turtles. Differential splicing of Kcnma1, which encodes for the alpha subunit of the Ca2+-activated K+ channel (BK channel), has been suggested to affect the channel gating properties and is important for frequency tuning. Consequently, deficits in alternative splicing have been shown to cause hearing loss, as we can observe in Bronx Waltzer (bv) mice and Sfswap mutant mice. Despite the advances in this field, the regulation of alternative splicing in the inner ear remains elusive. Further investigation is also needed to clarify the mechanism of hearing loss caused by alternative splicing deficits.
收录类别:CSCD;SCOPUS;SCIE
WOS核心被引频次:2
Scopus被引频次:2
资源类型:期刊论文
原文链接:https://www.scopus.com/inward/record.uri?eid=2-s2.0-84976901261&doi=10.1007%2fs11684-016-0454-y&partnerID=40&md5=0da66866ceef6fcbeb34f62c75c71ced
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