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Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64 期刊论文

编号：

06e239d7-ccfe-432f-9d23-6a8962232d45
作者：

Cheng, Jing^[1] Zhu, Yuhua^[1] He, Sudan^[2,3] Lu, Yanping^[4] Chen, Jing^[1] Han, Bing^[1] Petrillo, Marco^[5] Wrzeszczynski, Kazimierz O.^[6] Yang, Shiming^[1] Dai, Pu^[1] Zhai, Suoqiang^[1] Han, Dongyi^[1] Zhang, Michael Q.^[6] Li, Wei^[7] Liu, Xuezhong^[8] Li, Huawei^[9] Chen, ZhengYi^[5] Yuan, Huijun^[1]
语种：

English
期刊：

AMERICAN JOURNAL OF HUMAN GENETICS ISSN：0002-9297 2011 年 89 卷 1 期 (56 - 66) ; JUL 15
收录：
摘要：

SMAC/DIABLO is a mitochondrial proapoptotic protein that is released from mitochondria during apoptosis and counters the inhibitory activities of inhibitor of apoptosis proteins, IAPs. By linkage analysis and candidate screening, we identified a heterozygous SMAC/DIABLO mutation, c.377C>T (p.Ser126Leu, refers to p.Ser71Leu in the mature protein) in a six-generation Chinese kindred characterized by dominant progressive nonsyndromic hearing loss, designated as DFNA64. SMAC/DIABLO is highly expressed in human embryonic ears and is enriched in the developing mouse inner-ear hair cells, suggesting it has a role in the development and homeostasis of hair cells. We used a functional study to demonstrate that the SMAC/DIABLO(S71L) mutant, while retaining the proapoptotic function, triggers significant degradation of both wild-type and mutant SMAC/DIABLO and renders host mitochondria susceptible to calcium-induced loss of the membrane potential. Our work identifies DFNA64 as the human genetic disorder associated with SMAC/DIABLO malfunction and suggests that mutant SMAC/DIABLO(S71L) might cause mitochondrial dysfunction.
推荐引用方式
GB/T 7714：

Cheng Jing,Zhu Yuhua,He Sudan, et al. Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64 [J].AMERICAN JOURNAL OF HUMAN GENETICS,2011,89(1):56-66.
APA：

Cheng Jing,Zhu Yuhua,He Sudan,Lu Yanping,&Yuan Huijun.(2011).Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64 .AMERICAN JOURNAL OF HUMAN GENETICS,89(1):56-66.
MLA：

Cheng Jing, et al. "Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64" .AMERICAN JOURNAL OF HUMAN GENETICS 89,1(2011):56-66.

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