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GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63

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dc.contributor.author Fujimoto A.
dc.contributor.author Kurban M.
dc.contributor.author Nakamura M.
dc.contributor.author Farooq M.
dc.contributor.author Fujikawa H.
dc.contributor.author Kibbi A.-G.
dc.contributor.author Ito M.
dc.contributor.author Dahdah M.
dc.contributor.author Matta M.
dc.contributor.author Diab H.
dc.contributor.author Shimomura Y.
dc.contributor.editor
dc.date Feb-2013
dc.date.accessioned 2017-10-05T15:32:48Z
dc.date.available 2017-10-05T15:32:48Z
dc.date.issued 2013
dc.identifier 10.1016/j.jdermsci.2012.11.005
dc.identifier.isbn
dc.identifier.issn 09231811
dc.identifier.uri http://hdl.handle.net/10938/15408
dc.description.abstract Background: Clouston syndrome is a rare autosomal dominant condition characterized by hypotrichosis, nail dystrophy, and occasionally palmoplantar keratoderma. The disease is caused by mutations in GJB6 gene, which encodes a gap junction protein connexin 30 (Cx30). Objective: To disclose the molecular basis of Clouston syndrome in a Lebanese-German family, and also to determine precise expression of Cx30 in normal skin of humans and mice, as well as transcriptional regulation for the GJB6 expression. Methods: We searched for mutations in the GJB6 gene using DNA of the family members with Clouston syndrome. We performed immunostaining to localize the Cx30 expression in normal human skin and mouse embryos. In addition, we did a series of in vitro studies to investigate if the GJB6 could be a direct transcriptional target gene of p63. Results: We identified a recurrent heterozygous mutation c.31GC (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome. Immunostaining in normal human skin sections demonstrated predominant expression of Cx30 in hair follicles, nails, and palmoplantar epidermis, which partially overlapped with p63 expression. We also showed co-expression of Cx30 and p63 in developing mouse hair follicles and nail units. In cultured cells, the GJB6 expression was significantly upregulated by ΔNp63α isoform. Further in vitro analyses suggested that ΔNp63α was potentially involved in the GJB6 expression via binding to the sequences in intron 1 of the GJB6 gene. Conclusion: Our data further underscore the crucial roles of Cx30 in morphogenesis and development of skin and its appendages. © 2012 Japanese Society for Investigative Dermatology.
dc.format.extent
dc.format.extent Pages: (159-166)
dc.language English
dc.publisher CLARE
dc.relation.ispartof Publication Name: Journal of Dermatological Science; Publication Year: 2013; Volume: 69; no. 2; Pages: (159-166);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63
dc.type Article
dc.contributor.affiliation Fujimoto, A., Laboratory of Genetic Skin Diseases, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan, Division of Dermatology, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan
dc.contributor.affiliation Kurban, M., Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon, Department of Biochemistry and molecular genetics, American University of Beirut Medical Center, Beirut, Lebanon, Department of Dermatology, Columbia University, NY, United States
dc.contributor.affiliation Nakamura, M., Department of Dermatology, University of Occupational and Environmental Health, Kitakyushu, Japan
dc.contributor.affiliation Farooq, M., Laboratory of Genetic Skin Diseases, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan
dc.contributor.affiliation Fujikawa, H., Laboratory of Genetic Skin Diseases, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan, Division of Dermatology, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan
dc.contributor.affiliation Kibbi, A.-G., Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Ito, M., Division of Dermatology, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan
dc.contributor.affiliation Dahdah, M., Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Matta, M., Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Diab, H., School of Pharmacy, Lebanese American University, Lebanon
dc.contributor.affiliation Shimomura, Y., Laboratory of Genetic Skin Diseases, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan
dc.contributor.authorAddress Shimomura, Y.; Laboratory of Genetic Skin Diseases, Niigata University, Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan; email: yshimo@med.niigata-u.ac.jp
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Dermatology;
dc.contributor.authorDepartment Dermatology
dc.contributor.authorDivision
dc.contributor.authorEmail yshimo@med.niigata-u.ac.jp
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Fujimoto, A
dc.contributor.authorInitials Kurban, M
dc.contributor.authorInitials Nakamura, M
dc.contributor.authorInitials Farooq, M
dc.contributor.authorInitials Fujikawa, H
dc.contributor.authorInitials Kibbi, AG
dc.contributor.authorInitials Ito, M
dc.contributor.authorInitials Dahdah, M
dc.contributor.authorInitials Matta, M
dc.contributor.authorInitials Diab, H
dc.contributor.authorInitials Shimomura, Y
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Shimomura, Y (reprint author), Niigata Univ, Grad Sch Med and Dent Sci, Lab Genet Skin Dis, Chuo Ku, 1-757 Asahimachi Dori, Niigata 9518510, Japan.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 1
dc.description.citedTotWOSCount 1
dc.description.citedWOSCount 0
dc.format.extentCount 8
dc.identifier.articleNo
dc.identifier.coden JDSCE
dc.identifier.pubmedID 23219093
dc.identifier.scopusID 84873571303
dc.identifier.url
dc.publisher.address ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr J. Dermatol. Sci.
dc.relation.ispartOfIssue 2
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Journal of Dermatological Science
dc.relation.ispartofPubTitleAbbr J. Dermatol. Sci.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 69
dc.source.ID WOS:000315538800009
dc.type.publication Journal
dc.subject.otherAuthKeyword Clouston syndrome
dc.subject.otherAuthKeyword Connexin 30
dc.subject.otherAuthKeyword GJB6
dc.subject.otherAuthKeyword Hidrotic ectodermal dysplasia
dc.subject.otherAuthKeyword P63
dc.subject.otherChemCAS arginine, 1119-34-2, 15595-35-4, 7004-12-8, 74-79-3
dc.subject.otherChemCAS connexin 30, 247918-44-1
dc.subject.otherChemCAS glycine, 56-40-6, 6000-43-7, 6000-44-8
dc.subject.otherChemCAS CKAP4 protein, human
dc.subject.otherChemCAS Connexins
dc.subject.otherChemCAS GJB6 protein, human
dc.subject.otherChemCAS Gjb6 protein, mouse
dc.subject.otherChemCAS Membrane Proteins
dc.subject.otherChemCAS Phosphoproteins
dc.subject.otherChemCAS RNA, Small Interfering
dc.subject.otherChemCAS T
dc.subject.otherIndex arginine
dc.subject.otherIndex connexin 30
dc.subject.otherIndex glycine
dc.subject.otherIndex messenger RNA
dc.subject.otherIndex protein p63
dc.subject.otherIndex animal tissue
dc.subject.otherIndex article
dc.subject.otherIndex binding kinetics
dc.subject.otherIndex child
dc.subject.otherIndex connexin 30 gene
dc.subject.otherIndex controlled study
dc.subject.otherIndex DNA determination
dc.subject.otherIndex embryo
dc.subject.otherIndex ethnic group
dc.subject.otherIndex family assessment
dc.subject.otherIndex female
dc.subject.otherIndex gene expression regulation
dc.subject.otherIndex gene function
dc.subject.otherIndex gene location
dc.subject.otherIndex gene sequence
dc.subject.otherIndex gene targeting
dc.subject.otherIndex genetic code
dc.subject.otherIndex Germany
dc.subject.otherIndex hair follicle
dc.subject.otherIndex heterozygosity
dc.subject.otherIndex hidrotic ectodermal dysplasia
dc.subject.otherIndex human
dc.subject.otherIndex human cell
dc.subject.otherIndex human tissue
dc.subject.otherIndex immunohistochemistry
dc.subject.otherIndex intron
dc.subject.otherIndex Lebanon
dc.subject.otherIndex missense mutation
dc.subject.otherIndex molecular pathology
dc.subject.otherIndex mouse
dc.subject.otherIndex mutational analysis
dc.subject.otherIndex nail
dc.subject.otherIndex nonhuman
dc.subject.otherIndex P63 gene
dc.subject.otherIndex preschool child
dc.subject.otherIndex priority journal
dc.subject.otherIndex promoter region
dc.subject.otherIndex transcription regulation
dc.subject.otherIndex upregulation
dc.subject.otherIndex Adult
dc.subject.otherIndex Animals
dc.subject.otherIndex Connexins
dc.subject.otherIndex Ectodermal Dysplasia
dc.subject.otherIndex Family Health
dc.subject.otherIndex Female
dc.subject.otherIndex Gap Junctions
dc.subject.otherIndex Gene Expression Regulation, Developmental
dc.subject.otherIndex HEK293 Cells
dc.subject.otherIndex Heterozygote
dc.subject.otherIndex Humans
dc.subject.otherIndex Hypotrichosis
dc.subject.otherIndex Infant
dc.subject.otherIndex Keratinocytes
dc.subject.otherIndex Male
dc.subject.otherIndex Membrane Proteins
dc.subject.otherIndex Mice
dc.subject.otherIndex Mice, Inbred C57BL
dc.subject.otherIndex Mutation, Missense
dc.subject.otherIndex Nail Diseases
dc.subject.otherIndex Phosphoproteins
dc.subject.otherIndex Pregnancy
dc.subject.otherIndex RNA, Small Interfering
dc.subject.otherIndex Trans-Activators
dc.subject.otherKeywordPlus HIDROTIC ECTODERMAL DYSPLASIA
dc.subject.otherKeywordPlus HAIR FOLLICLE
dc.subject.otherKeywordPlus P53 HOMOLOG
dc.subject.otherKeywordPlus STEM-CELLS
dc.subject.otherKeywordPlus EXPRESSION
dc.subject.otherKeywordPlus SKIN
dc.subject.otherKeywordPlus CARCINOGENESIS
dc.subject.otherKeywordPlus CONNEXIN-30
dc.subject.otherKeywordPlus ISOFORM
dc.subject.otherKeywordPlus FAMILY
dc.subject.otherWOS Dermatology


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