IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
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
2012-03-09
DOI10.1016/j.ajhg.2012.02.006
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
资助者National Natural Science Foundation of China ; Program for New Century Excellent Talents ; National Natural Science Foundation of China ; Program for New Century Excellent Talents
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
资助者National Natural Science Foundation of China ; Program for New Century Excellent Talents ; National Natural Science Foundation of China ; Program for New Century Excellent Talents
WOS记录号WOS:000301762800023
引用统计
被引频次:111[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55693
专题北京大学第一临床医学院_皮肤性病科
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
推荐引用方式
GB/T 7714
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.
APA Lin, Zhimiao.,Chen, Quan.,Lee, Mingyang.,Cao, Xu.,Zhang, Jie.,...&Yang, Yong.(2012).Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome.AMERICAN JOURNAL OF HUMAN GENETICS,90(3),558-564.
MLA Lin, Zhimiao,et al."Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome".AMERICAN JOURNAL OF HUMAN GENETICS 90.3(2012):558-564.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Lin, Zhimiao]的文章
[Chen, Quan]的文章
[Lee, Mingyang]的文章
百度学术
百度学术中相似的文章
[Lin, Zhimiao]的文章
[Chen, Quan]的文章
[Lee, Mingyang]的文章
必应学术
必应学术中相似的文章
[Lin, Zhimiao]的文章
[Chen, Quan]的文章
[Lee, Mingyang]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。