A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestor

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dc.authoridStefanini, Marco/0000-0001-7829-0528
dc.authoridKraemer, Kenneth/0000-0002-2689-3316
dc.authoridKHAN, SIKANDAR/0000-0001-9957-4132
dc.authorwosidMetin, Ahmet/ABB-7187-2020
dc.authorwosidStefanini, Marco/AGD-6778-2022
dc.authorwosidMetin, Ahmet/HJY-7499-2023
dc.contributor.authorGozukara, EM
dc.contributor.authorKhan, SG
dc.contributor.authorMetin, A
dc.contributor.authorEmmert, S
dc.contributor.authorBusch, DB
dc.contributor.authorShahlavi, T
dc.contributor.authorColeman, DM
dc.date.accessioned2024-08-04T20:56:21Z
dc.date.available2024-08-04T20:56:21Z
dc.date.issued2001
dc.departmentİnönü Üniversitesien_US
dc.description.abstractXeroderma pigmentosum family G from Van, Turkey had two severely affected children: a son with multiple skin cancers who died at age 10 (XP67TMA), and an 8 y old daughter who began developing skin cancer before 3 y of age (XP68TMA). XP67TMA and XP68TMA cells were hypersensitive to killing by ultraviolet and the post-ultraviolet DNA repair level was 12-16% of normal. Host cell reactivation of an ultraviolet-treated reporter plasmid cotransfected with a vector expressing wild-type XPC cDNA assigned XP67TMA to xeroderma pigmentosum complementation group C. The XPC mRNA level was markedly reduced. Sequencing of the 3.5 kb XPC cDNA from XP67TMA showed a C-T mutation in XPC exon 8 at base pair 1840. This mutation converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation of the 940 amino acid xeroderma pigmentosum C protein. Restriction fragment length polymorphism analysis of XPC exon 8 DNA in XP67TMA and XP68TMA showed that both affected children had a homozygous mutation and that both parents had heterozygous normal and mutated sequences at the same position consistent with a history of consanguinity in the family. The mutated allele also contained two XPC single nucleotide polymorphisms. The same mutated XPC allele was reported in an Italian family. Studies of 19 microsatellite markers flanking the XPC gene on chromosome 3 suggest that the XPC allele passed between Italy and Turkey approximately 300-500 y ago. This XPC allele containing a nonsense mutation is associated with severe clinical disease with multiple skin cancers and early death.en_US
dc.description.sponsorshipIntramural NIH HHS [Z01 BC004517-31] Funding Source: Medlineen_US
dc.identifier.doi10.1046/j.1523-1747.2001.01424.x
dc.identifier.endpage204en_US
dc.identifier.issn0022-202X
dc.identifier.issue2en_US
dc.identifier.pmid11511294en_US
dc.identifier.startpage197en_US
dc.identifier.urihttps://doi.org/10.1046/j.1523-1747.2001.01424.x
dc.identifier.urihttps://hdl.handle.net/11616/102250
dc.identifier.volume117en_US
dc.identifier.wosWOS:000170668300004en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBlackwell Science Incen_US
dc.relation.ispartofJournal of Investigative Dermatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDNA repairen_US
dc.subjectmicrosatellite markersen_US
dc.subjectskin canceren_US
dc.subjectSNPen_US
dc.subjectUV radiationen_US
dc.titleA stop codon in xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestoren_US
dc.typeArticleen_US

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