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IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科  > 期刊论文
学科主题: 临床医学
题名:
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
作者: Lin, Zhimiao1; Chen, Quan1; Lee, Mingyang1; Cao, Xu2; Zhang, Jie1; Ma, Donglai3; Chen, Long4; Hu, Xiaoping5; Wang, Huijun1; Wang, Xiaowen1; Zhang, Peng6; Liu, Xuanzhu6; Guan, Liping6; Tang, Yiquan2; Yang, Haizhen1; Tu, Ping1; Bu, Dingfang1; Zhu, Xuejun1; Wang, KeWei2; Li, Ruoyu1; Yang, Yong1
刊名: AMERICAN JOURNAL OF HUMAN GENETICS
发表日期: 2012-03-09
DOI: 10.1016/j.ajhg.2012.02.006
卷: 90, 期:3, 页:558-564
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: S4-S5 LINKER ; ION CHANNELS ; HAIR-GROWTH ; HEAT ; ACTIVATION ; RODENTS ; PROTEIN ; DOMAIN ; SKIN
英文摘要:

Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for OS remained unidentified. Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS. Nucleotide sequencing of five additional affected individuals also revealed missense mutations in TRPV3 (which produced p.Gly573Ser in three cases and p.Gly573Cys and p.Trp692Gly in one case each). Encoding a transient receptor potential vanilloid-3 cation channel, TRPV3 is primarily expressed in the skin, hair follicles, brain, and spinal cord. In transfected HEK293 cells expressing TRPV3 mutants, much larger inward currents were recorded, probably because of the constitutive opening of the mutants. These gain-of-function mutations might lead to elevated apoptosis of keratinocytes and consequent skin hyperkeratosis in the affected individuals. Our findings suggest that TRPV3 plays essential roles in skin keratinization, hair growth, and possibly itching sensation in humans and selectively targeting TRPV3 could provide therapeutic potential for keratinization or itching-related skin disorders.

语种: 英语
所属项目编号: 81071289 ; 30970919 ; NCET06-0015
项目资助者: National Natural Science Foundation of China ; Program for New Century Excellent Talents
WOS记录号: WOS:000301762800023
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55693
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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作者单位: 1.Wuhan 1 Hosp, Dept Dermatol, Wuhan 430022, Peoples R China
2.Peking Univ, Dept Dermatol, Hosp 1, Beijing 100034, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Dept Neurobiol, Neurosci Res Inst, Beijing 100191, Peoples R China
4.Beijing Union Med Coll Hosp, Dept Dermatol, Beijing 100005, Peoples R China
5.Peking Univ, Shenzhen Hosp, Dept Dermatol, Shenzhen 518036, Peoples R China
6.Beijing Genom Inst, Dept Mendelian Disorder Res, Shenzhen 518083, Peoples R China

Recommended Citation:
Lin, Zhimiao,Chen, Quan,Lee, Mingyang,et al. Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome[J]. AMERICAN JOURNAL OF HUMAN GENETICS,2012,90(3):558-564.
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