Alternative splicing of inner-ear-expressed genes

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-s...

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Bibliographic Details
Published inFrontiers of medicine Vol. 10; no. 3; pp. 250 - 257
Main Authors Wang, Yanfei, Liu, Yueyue, Nie, Hongyun, Ma, Xin, Xu, Zhigang
Format Journal Article
LanguageEnglish
Published Beijing Higher Education Press 01.09.2016
Springer Nature B.V
Subjects
Alternative Splicing
Animals
Cadherins - genetics
Cadherins - physiology
Chickens
Cochlea - physiology
Eukaryotes
hair cells
Hair Cells, Auditory, Inner - metabolism
Hearing loss
Hearing Loss - genetics
Hearing protection
Humans
inner ear
Male
Medicine
Medicine & Public Health
Mice
Potassium Channels, Calcium-Activated - genetics
Potassium Channels, Calcium-Activated - physiology
Review
Turtles
内耳
听力损失
基因剪接
生理功能
突变小鼠
选择性剪接
钙激活钾通道
频率调谐
hair cells
hearing loss
alternative splicing
inner ear
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Summary: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 Kcnmal, which encodes for the a 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 Cov） 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.
Bibliography:11-5983/R
alternative splicing; inner ear; hearing loss; hair cells
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 Kcnmal, which encodes for the a 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 Cov） 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.
hair cells
Document accepted on :2016-05-11
hearing loss
alternative splicing
inner ear
Document received on :2015-12-24
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-1
ISSN:2095-0217
2095-0225
DOI:10.1007/s11684-016-0454-y