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学科主题临床医学
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family
Gao, Juanjuan1; Wang, Qi1; Dong, Cheng1; Chen, Siqi1; Qi, Yu2; Liu, Yuhe1
刊名PLOS ONE
2015-07-21
DOI10.1371/journal.pone.0133522
10期:7
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]HEARING-LOSS ; INDUCED APOPTOSIS ; DNA-REPLICATION ; HAIR-CELLS ; MUTATION ; LOCALIZATION ; EXPRESSION ; COMPLEX ; INNER ; OVEREXPRESSION
英文摘要

We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of eukaryotic genome replication. This missense variant is very likely to be the disease causing variant. It segregated with hearing loss in this pedigree, and was not found in the dbSNP database or databases of genomes and SNP in the Chinese population, in 76 patients with sporadic hearing loss, or in 145 normal individuals. We performed western blot and immunofluorescence to test the MCM2 protein expression in the cochlea of rats and guinea pigs, demonstrating that MCM2 was widely expressed in the cochlea and was also surprisingly expressed in the cytoplasm of terminally differentiated hair cells. We then transiently expressed the variant MCM2 cDNA in HEK293 cells, and found that these cells displayed a slight increase in apoptosis without any changes in proliferation or cell cycle, supporting the view that this variant is pathogenic. In summary, we have identified MCM2 as a novel gene responsible for nonsyndromic hearing loss of autosomal dominant inheritance in a Chinese family.

语种英语
所属项目编号81271083 ; 81470691
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000358547600109
Citation statistics
Cited Times:4[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60425
Collection北京大学第一临床医学院
作者单位1.Peking Univ, Hosp 1, Dept Otolaryngol Head & Neck Surg, Beijing 100871, Peoples R China
2.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100871, Peoples R China
Recommended Citation
GB/T 7714
Gao, Juanjuan,Wang, Qi,Dong, Cheng,et al. Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family[J]. PLOS ONE,2015,10(7).
APA Gao, Juanjuan,Wang, Qi,Dong, Cheng,Chen, Siqi,Qi, Yu,&Liu, Yuhe.(2015).Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.PLOS ONE,10(7).
MLA Gao, Juanjuan,et al."Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family".PLOS ONE 10.7(2015).
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