Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A > G mutation
详细信息 查看全文
- 作者：Jian Zhanga ; Ziyi Liua ; Aoshuang Changb ; Jie Fangc ; Yuqin Mena ; Yong Tianc ; d ; Xiaomei Ouyange ; Denise Yane ; Aizhen Zhanga ; Xiaoyang Suna ; Jie Tangb ; Xuezhong Liue ; xliu@med.miami.edu" class="auth_mail" title="E-mail the corresponding author ; Jian Zuoc ; jian.zuo@stjude.org" class="auth_mail" title="E-mail the corresponding author ; Jiangang Gaoa ; jggao@sdu.edu.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：OHC ; outer hair cell ; SLC26A5 ; solute carrier anion transporter family 26 member 5 ; ABR ; auditory brainstem response ; NLC ; nonlinear capacitance
- 刊名：Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：790
- 期：Complete
- 页码：1-7
- 全文大小：1812 K
文摘
- •
Whether the IVS2-2A > G mutation in the SLC26A5 gene causes deafness is unproven.
- •
IVS2-2A > G mutant mice displayed normal hearing sensitivity.
- •
The IVS2-2A > G mutation caused alternative splicing and loss of 11 nucleotides in mRNA.
- •
The splicing abnormality did not affect the expression and function of prestin.
- •
The IVS2-2A > G mutation is insufficient to cause hearing loss in mice.