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Xeroderma pigmentosum-variant patients from America, Europe, and Asia

DC Field Value Language
dc.contributor.author정기양-
dc.contributor.author정혜진-
dc.date.accessioned2015-05-19T16:46:42Z-
dc.date.available2015-05-19T16:46:42Z-
dc.date.issued2008-
dc.identifier.issn0022-202X-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/106927-
dc.description.abstractXeroderma pigmentosum-variant (XP-V) patients have sun sensitivity and increased skin cancer risk. Their cells have normal nucleotide excision repair, but have defects in the POLH gene encoding an error-prone polymerase, DNA polymerase eta (pol eta). To survey the molecular basis of XP-V worldwide, we measured pol eta protein in skin fibroblasts from putative XP-V patients (aged 8-66 years) from 10 families in North America, Turkey, Israel, Germany, and Korea. Pol eta was undetectable in cells from patients in eight families, whereas two showed faint bands. DNA sequencing identified 10 different POLH mutations. There were two splicing, one nonsense, five frameshift (3 deletion and 2 insertion), and two missense mutations. Nine of these mutations involved the catalytic domain. Although affected siblings had similar clinical features, the relation between the clinical features and the mutations was not clear. POLH mRNA levels were normal or reduced by 50% in three cell strains with undetectable levels of pol eta protein, indicating that nonsense-mediated message decay was limited. We found a wide spectrum of mutations in the POLH gene among XP-V patients in different countries, suggesting that many of these mutations arose independently.-
dc.description.statementOfResponsibilityopen-
dc.format.extent2055~2068-
dc.relation.isPartOfJOURNAL OF INVESTIGATIVE DERMATOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAged-
dc.subject.MESHAsia-
dc.subject.MESHChild-
dc.subject.MESHCodon, Nonsense/genetics-
dc.subject.MESHDNA-Directed DNA Polymerase/genetics*-
dc.subject.MESHDNA-Directed DNA Polymerase/metabolism-
dc.subject.MESHEurope-
dc.subject.MESHFemale-
dc.subject.MESHFibroblasts/metabolism-
dc.subject.MESHFibroblasts/pathology-
dc.subject.MESHFrameshift Mutation/genetics-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation/genetics*-
dc.subject.MESHMutation, Missense/genetics-
dc.subject.MESHNorth America-
dc.subject.MESHPedigree-
dc.subject.MESHRNA, Messenger/metabolism-
dc.subject.MESHXeroderma Pigmentosum/ethnology-
dc.subject.MESHXeroderma Pigmentosum/genetics*-
dc.subject.MESHXeroderma Pigmentosum/metabolism-
dc.titleXeroderma pigmentosum-variant patients from America, Europe, and Asia-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Dermatology (피부과학)-
dc.contributor.googleauthorHiroki Inui-
dc.contributor.googleauthorKyu-Seon Oh-
dc.contributor.googleauthorCarine Nadem-
dc.contributor.googleauthorTakahiro Ueda-
dc.contributor.googleauthorSikandar G. Khan-
dc.contributor.googleauthorAhmet Metin-
dc.contributor.googleauthorEngin Gozukara-
dc.contributor.googleauthorSteffen Emmert-
dc.contributor.googleauthorHanoch Slor-
dc.contributor.googleauthorDavid B. Busch-
dc.contributor.googleauthorCarl C. Baker-
dc.contributor.googleauthorJohn J. DiGiovanna-
dc.contributor.googleauthorDeborah Tamura-
dc.contributor.googleauthorCornelia S. Seitz-
dc.contributor.googleauthorAlexei Gratchev-
dc.contributor.googleauthorWen Hao Wu-
dc.contributor.googleauthorKee Yang Chung-
dc.contributor.googleauthorHye Jin Chung-
dc.contributor.googleauthorEsther Azizi-
dc.contributor.googleauthorRoger Woodgate-
dc.contributor.googleauthorThomas D. Schneider-
dc.contributor.googleauthorKenneth H. Kraemer-
dc.identifier.doi10.1038/jid.2008.48-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA03582-
dc.contributor.localIdA03783-
dc.relation.journalcodeJ01469-
dc.identifier.eissn1523-1747-
dc.identifier.pmid18368133-
dc.subject.keywordAdolescent-
dc.subject.keywordAdult-
dc.subject.keywordAged-
dc.subject.keywordAsia-
dc.subject.keywordChild-
dc.subject.keywordCodon, Nonsense/genetics-
dc.subject.keywordDNA-Directed DNA Polymerase/genetics*-
dc.subject.keywordDNA-Directed DNA Polymerase/metabolism-
dc.subject.keywordEurope-
dc.subject.keywordFemale-
dc.subject.keywordFibroblasts/metabolism-
dc.subject.keywordFibroblasts/pathology-
dc.subject.keywordFrameshift Mutation/genetics-
dc.subject.keywordHumans-
dc.subject.keywordMale-
dc.subject.keywordMiddle Aged-
dc.subject.keywordMutation/genetics*-
dc.subject.keywordMutation, Missense/genetics-
dc.subject.keywordNorth America-
dc.subject.keywordPedigree-
dc.subject.keywordRNA, Messenger/metabolism-
dc.subject.keywordXeroderma Pigmentosum/ethnology-
dc.subject.keywordXeroderma Pigmentosum/genetics*-
dc.subject.keywordXeroderma Pigmentosum/metabolism-
dc.contributor.alternativeNameChung, Kee Yang-
dc.contributor.alternativeNameChung, Hye Jin-
dc.contributor.affiliatedAuthorChung, Kee Yang-
dc.contributor.affiliatedAuthorChung, Hye Jin-
dc.rights.accessRightsfree-
dc.citation.volume128-
dc.citation.number8-
dc.citation.startPage2055-
dc.citation.endPage2068-
dc.identifier.bibliographicCitationJOURNAL OF INVESTIGATIVE DERMATOLOGY, Vol.128(8) : 2055-2068, 2008-
dc.identifier.rimsid56372-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers

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