schliessen

Filtern

 

Bibliotheken

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

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 mutat... Full description

Journal Title: American journal of human genetics 2012-03-09, Vol.90 (3), p.558-564
Main Author: Lin, Zhimiao
Other Authors: Chen, Quan , Lee, Mingyang , Cao, Xu , Zhang, Jie , Ma, Donglai , Chen, Long , Hu, Xiaoping , Wang, Huijun , Wang, Xiaowen , Zhang, Peng , Liu, Xuanzhu , Guan, Liping , Tang, Yiquan , Yang, Haizhen , Tu, Ping , Bu, Dingfang , Zhu, Xuejun , Wang, KeWei , Li, Ruoyu , Yang, Yong
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Cambridge, MA: Elsevier Inc
ID: ISSN: 0002-9297
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3309189
title: Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
format: Article
creator:
  • Lin, Zhimiao
  • Chen, Quan
  • Lee, Mingyang
  • Cao, Xu
  • Zhang, Jie
  • Ma, Donglai
  • Chen, Long
  • Hu, Xiaoping
  • Wang, Huijun
  • Wang, Xiaowen
  • Zhang, Peng
  • Liu, Xuanzhu
  • Guan, Liping
  • Tang, Yiquan
  • Yang, Haizhen
  • Tu, Ping
  • Bu, Dingfang
  • Zhu, Xuejun
  • Wang, KeWei
  • Li, Ruoyu
  • Yang, Yong
subjects:
  • Adolescent
  • Adult
  • Alopecia
  • Alopecia - genetics
  • Amino Acid Sequence
  • Apoptosis
  • Apoptosis - genetics
  • Biological and medical sciences
  • Brain
  • cation channels
  • Causes of
  • Cell Line, Transformed
  • Child
  • Congenital diseases
  • Exome
  • Exome sequencing
  • Female
  • Follicles
  • Fundamental and applied biological sciences. Psychology
  • Gene expression
  • Gene mutations
  • General aspects. Genetic counseling
  • Genetic aspects
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genetics(clinical)
  • Hair
  • HEK293 Cells
  • Humans
  • integumentary system
  • Keratinization
  • Keratinocytes
  • Keratoderma, Palmoplantar - genetics
  • Keratodermas
  • Male
  • Medical genetics
  • Medical sciences
  • Missense mutation
  • Molecular and cellular biology
  • Molecular Sequence Data
  • Mutation
  • Mutation, Missense
  • Nucleotide sequence
  • Nucleotides
  • Proteins
  • Pruritus
  • Pruritus - genetics
  • Report
  • Skin
  • Spinal cord
  • Syndrome
  • Transfection - methods
  • transient receptor potential proteins
  • TRPV Cation Channels - genetics
  • Usage
  • Young Adult
ispartof: American journal of human genetics, 2012-03-09, Vol.90 (3), p.558-564
description: 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.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


@attributes
NO1
SEARCH_ENGINEprimo_central_multiple_fe
SEARCH_ENGINE_TYPEPrimo Central Search Engine
RANK2.7228267
LOCALfalse
PrimoNMBib
record
control
sourceidgale_pubme
recordidTN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3309189
sourceformatXML
sourcesystemPC
galeidA288997596
sourcerecordidA288997596
originalsourceidFETCH-LOGICAL-1682t-c645c89ab32e176aea833c5c66d2abba34d5178e4888b87fcd24d18aee3ce8b43
addsrcrecordideNqNkt1rFDEUxQdRbK3-Az7IgAi-7JqPSSYBKZSlflGttNXXcCe5s80ym6yTmWr_ezNsbW0fSiGQh_mdMzfnnqJ4ScmcEirfreawOl_OGaFsTvIh8lGxSwWvZ1IS8bjYJYSwmWa63imepbQihFJF-NNih7GKCKLUbvHl8E9cY3mKv0YM1odleYIXCF0qv44DDD6GVPpQnp18_8lLSCWUCxgTlrEtj7t1GtCVp5fB9dnkefGkzUJ8cXXvFT8-HJ4tPs2Ojj9-XhwczahUbJhZWQmrNDScIa0lICjOrbBSOgZNA7xygtYKK6VUo-rWOlY5qgCRW1RNxfeK_a3vZmzW6CyGoYfObHq_hv7SRPDm9pfgz80yXhjOiaZKZ4NvW4O4wQC-x1taF3AwDt24Mb9bkzMzmlDHiGqbVleUMYZa107oGtrGcg48G769mqiPOcc0mLVPFrsOAsYxGUpy1lWlCHsYykXNxENQqgUR1YS-voOu4tiHvIVMMalZLam-oZbQofGhjTkeO5maA6ZUfpXQMlNsS9k-ptRje50OJWbqnVmZqXdm6p0h-ZBJ9Or_nVxL_hUtA2-uAEgWuraH3LZ0wwmZi0unl6g7f7d-28M8q-_un-H9Voq5fBcee5Osz6VGl1ds806jv0_-F0ukBPg
sourcetypeOpen Access Repository
isCDItrue
recordtypearticle
pqid1026927619
display
typearticle
titleExome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
sourceAlma/SFX Local Collection
creatorLin, Zhimiao ; Chen, Quan ; Lee, Mingyang ; Cao, Xu ; Zhang, Jie ; Ma, Donglai ; Chen, Long ; Hu, Xiaoping ; Wang, Huijun ; Wang, Xiaowen ; Zhang, Peng ; Liu, Xuanzhu ; Guan, Liping ; Tang, Yiquan ; Yang, Haizhen ; Tu, Ping ; Bu, Dingfang ; Zhu, Xuejun ; Wang, KeWei ; Li, Ruoyu ; Yang, Yong
creatorcontribLin, Zhimiao ; Chen, Quan ; Lee, Mingyang ; Cao, Xu ; Zhang, Jie ; Ma, Donglai ; Chen, Long ; Hu, Xiaoping ; Wang, Huijun ; Wang, Xiaowen ; Zhang, Peng ; Liu, Xuanzhu ; Guan, Liping ; Tang, Yiquan ; Yang, Haizhen ; Tu, Ping ; Bu, Dingfang ; Zhu, Xuejun ; Wang, KeWei ; Li, Ruoyu ; Yang, Yong
descriptionOlmsted 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.
identifier
0ISSN: 0002-9297
1EISSN: 1537-6605
2DOI: 10.1016/j.ajhg.2012.02.006
3PMID: 22405088
4CODEN: AJHGAG
languageeng
publisherCambridge, MA: Elsevier Inc
subjectAdolescent ; Adult ; Alopecia ; Alopecia - genetics ; Amino Acid Sequence ; Apoptosis ; Apoptosis - genetics ; Biological and medical sciences ; Brain ; cation channels ; Causes of ; Cell Line, Transformed ; Child ; Congenital diseases ; Exome ; Exome sequencing ; Female ; Follicles ; Fundamental and applied biological sciences. Psychology ; Gene expression ; Gene mutations ; General aspects. Genetic counseling ; Genetic aspects ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics(clinical) ; Hair ; HEK293 Cells ; Humans ; integumentary system ; Keratinization ; Keratinocytes ; Keratoderma, Palmoplantar - genetics ; Keratodermas ; Male ; Medical genetics ; Medical sciences ; Missense mutation ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Nucleotide sequence ; Nucleotides ; Proteins ; Pruritus ; Pruritus - genetics ; Report ; Skin ; Spinal cord ; Syndrome ; Transfection - methods ; transient receptor potential proteins ; TRPV Cation Channels - genetics ; Usage ; Young Adult
ispartofAmerican journal of human genetics, 2012-03-09, Vol.90 (3), p.558-564
rights
02012 The American Society of Human Genetics
12015 INIST-CNRS
2Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
3Copyright Cell Press Mar 9, 2012
42012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics
lds50peer_reviewed
oafree_for_read
citedbyFETCH-LOGICAL-1682t-c645c89ab32e176aea833c5c66d2abba34d5178e4888b87fcd24d18aee3ce8b43
links
openurl$$Topenurl_article
openurlfulltext$$Topenurlfull_article
thumbnail$$Usyndetics_thumb_exl
backlink
0$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25615315$$DView record in Pascal Francis
1$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22405088$$D View this record in MEDLINE/PubMed
search
creatorcontrib
0Lin, Zhimiao
1Chen, Quan
2Lee, Mingyang
3Cao, Xu
4Zhang, Jie
5Ma, Donglai
6Chen, Long
7Hu, Xiaoping
8Wang, Huijun
9Wang, Xiaowen
10Zhang, Peng
11Liu, Xuanzhu
12Guan, Liping
13Tang, Yiquan
14Yang, Haizhen
15Tu, Ping
16Bu, Dingfang
17Zhu, Xuejun
18Wang, KeWei
19Li, Ruoyu
20Yang, Yong
title
0Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
1American journal of human genetics
addtitleAm J Hum Genet
descriptionOlmsted 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.
subject
0Adolescent
1Adult
2Alopecia
3Alopecia - genetics
4Amino Acid Sequence
5Apoptosis
6Apoptosis - genetics
7Biological and medical sciences
8Brain
9cation channels
10Causes of
11Cell Line, Transformed
12Child
13Congenital diseases
14Exome
15Exome sequencing
16Female
17Follicles
18Fundamental and applied biological sciences. Psychology
19Gene expression
20Gene mutations
21General aspects. Genetic counseling
22Genetic aspects
23Genetics
24Genetics of eukaryotes. Biological and molecular evolution
25Genetics(clinical)
26Hair
27HEK293 Cells
28Humans
29integumentary system
30Keratinization
31Keratinocytes
32Keratoderma, Palmoplantar - genetics
33Keratodermas
34Male
35Medical genetics
36Medical sciences
37Missense mutation
38Molecular and cellular biology
39Molecular Sequence Data
40Mutation
41Mutation, Missense
42Nucleotide sequence
43Nucleotides
44Proteins
45Pruritus
46Pruritus - genetics
47Report
48Skin
49Spinal cord
50Syndrome
51Transfection - methods
52transient receptor potential proteins
53TRPV Cation Channels - genetics
54Usage
55Young Adult
issn
00002-9297
11537-6605
fulltexttrue
rsrctypearticle
creationdate2012
recordtypearticle
recordideNqNkt1rFDEUxQdRbK3-Az7IgAi-7JqPSSYBKZSlflGttNXXcCe5s80ym6yTmWr_ezNsbW0fSiGQh_mdMzfnnqJ4ScmcEirfreawOl_OGaFsTvIh8lGxSwWvZ1IS8bjYJYSwmWa63imepbQihFJF-NNih7GKCKLUbvHl8E9cY3mKv0YM1odleYIXCF0qv44DDD6GVPpQnp18_8lLSCWUCxgTlrEtj7t1GtCVp5fB9dnkefGkzUJ8cXXvFT8-HJ4tPs2Ojj9-XhwczahUbJhZWQmrNDScIa0lICjOrbBSOgZNA7xygtYKK6VUo-rWOlY5qgCRW1RNxfeK_a3vZmzW6CyGoYfObHq_hv7SRPDm9pfgz80yXhjOiaZKZ4NvW4O4wQC-x1taF3AwDt24Mb9bkzMzmlDHiGqbVleUMYZa107oGtrGcg48G769mqiPOcc0mLVPFrsOAsYxGUpy1lWlCHsYykXNxENQqgUR1YS-voOu4tiHvIVMMalZLam-oZbQofGhjTkeO5maA6ZUfpXQMlNsS9k-ptRje50OJWbqnVmZqXdm6p0h-ZBJ9Or_nVxL_hUtA2-uAEgWuraH3LZ0wwmZi0unl6g7f7d-28M8q-_un-H9Voq5fBcee5Osz6VGl1ds806jv0_-F0ukBPg
startdate20120309
enddate20120309
creator
0Lin, Zhimiao
1Chen, Quan
2Lee, Mingyang
3Cao, Xu
4Zhang, Jie
5Ma, Donglai
6Chen, Long
7Hu, Xiaoping
8Wang, Huijun
9Wang, Xiaowen
10Zhang, Peng
11Liu, Xuanzhu
12Guan, Liping
13Tang, Yiquan
14Yang, Haizhen
15Tu, Ping
16Bu, Dingfang
17Zhu, Xuejun
18Wang, KeWei
19Li, Ruoyu
20Yang, Yong
general
0Elsevier Inc
1Cell Press
2Elsevier B.V
3Elsevier
scope
06I.
1AAFTH
2IQODW
3CGR
4CUY
5CVF
6ECM
7EIF
8NPM
9AAYXX
10CITATION
117QP
127TK
137TM
147U7
158FD
16C1K
17FR3
18K9.
19P64
20RC3
217X8
22BOBZL
23CLFQK
245PM
sort
creationdate20120309
titleExome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
authorLin, Zhimiao ; Chen, Quan ; Lee, Mingyang ; Cao, Xu ; Zhang, Jie ; Ma, Donglai ; Chen, Long ; Hu, Xiaoping ; Wang, Huijun ; Wang, Xiaowen ; Zhang, Peng ; Liu, Xuanzhu ; Guan, Liping ; Tang, Yiquan ; Yang, Haizhen ; Tu, Ping ; Bu, Dingfang ; Zhu, Xuejun ; Wang, KeWei ; Li, Ruoyu ; Yang, Yong
facets
frbrtype5
frbrgroupidcdi_FETCH-LOGICAL-1682t-c645c89ab32e176aea833c5c66d2abba34d5178e4888b87fcd24d18aee3ce8b43
rsrctypearticles
prefilterarticles
languageeng
creationdate2012
topic
0Adolescent
1Adult
2Alopecia
3Alopecia - genetics
4Amino Acid Sequence
5Apoptosis
6Apoptosis - genetics
7Biological and medical sciences
8Brain
9cation channels
10Causes of
11Cell Line, Transformed
12Child
13Congenital diseases
14Exome
15Exome sequencing
16Female
17Follicles
18Fundamental and applied biological sciences. Psychology
19Gene expression
20Gene mutations
21General aspects. Genetic counseling
22Genetic aspects
23Genetics
24Genetics of eukaryotes. Biological and molecular evolution
25Genetics(clinical)
26Hair
27HEK293 Cells
28Humans
29integumentary system
30Keratinization
31Keratinocytes
32Keratoderma, Palmoplantar - genetics
33Keratodermas
34Male
35Medical genetics
36Medical sciences
37Missense mutation
38Molecular and cellular biology
39Molecular Sequence Data
40Mutation
41Mutation, Missense
42Nucleotide sequence
43Nucleotides
44Proteins
45Pruritus
46Pruritus - genetics
47Report
48Skin
49Spinal cord
50Syndrome
51Transfection - methods
52transient receptor potential proteins
53TRPV Cation Channels - genetics
54Usage
55Young Adult
toplevel
0peer_reviewed
1online_resources
creatorcontrib
0Lin, Zhimiao
1Chen, Quan
2Lee, Mingyang
3Cao, Xu
4Zhang, Jie
5Ma, Donglai
6Chen, Long
7Hu, Xiaoping
8Wang, Huijun
9Wang, Xiaowen
10Zhang, Peng
11Liu, Xuanzhu
12Guan, Liping
13Tang, Yiquan
14Yang, Haizhen
15Tu, Ping
16Bu, Dingfang
17Zhu, Xuejun
18Wang, KeWei
19Li, Ruoyu
20Yang, Yong
collection
0ScienceDirect Open Access Titles
1Elsevier:ScienceDirect:Open Access
2Pascal-Francis
3Medline
4MEDLINE
5MEDLINE (Ovid)
6MEDLINE
7MEDLINE
8PubMed
9CrossRef
10Calcium & Calcified Tissue Abstracts
11Neurosciences Abstracts
12Nucleic Acids Abstracts
13Toxicology Abstracts
14Technology Research Database
15Environmental Sciences and Pollution Management
16Engineering Research Database
17ProQuest Health & Medical Complete (Alumni)
18Biotechnology and BioEngineering Abstracts
19Genetics Abstracts
20MEDLINE - Academic
21OpenAIRE (Open Access)
22OpenAIRE
23PubMed Central (Full Participant titles)
jtitleAmerican journal of human genetics
delivery
delcategoryRemote Search Resource
fulltextfulltext
addata
au
0Lin, Zhimiao
1Chen, Quan
2Lee, Mingyang
3Cao, Xu
4Zhang, Jie
5Ma, Donglai
6Chen, Long
7Hu, Xiaoping
8Wang, Huijun
9Wang, Xiaowen
10Zhang, Peng
11Liu, Xuanzhu
12Guan, Liping
13Tang, Yiquan
14Yang, Haizhen
15Tu, Ping
16Bu, Dingfang
17Zhu, Xuejun
18Wang, KeWei
19Li, Ruoyu
20Yang, Yong
formatjournal
genrearticle
ristypeJOUR
atitleExome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
jtitleAmerican journal of human genetics
addtitleAm J Hum Genet
date2012-03-09
risdate2012
volume90
issue3
spage558
epage564
pages558-564
issn0002-9297
eissn1537-6605
codenAJHGAG
notesThese authors contributed equally to this work
abstractOlmsted 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.
copCambridge, MA
pubElsevier Inc
pmid22405088
doi10.1016/j.ajhg.2012.02.006
oafree_for_read