Emmert, Steffen

[["dc.bibliographiccitation.firstpage","2055"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","2068"],["dc.bibliographiccitation.volume","128"],["dc.contributor.author","Inui, Hiroki"],["dc.contributor.author","Oh, Kyu-Seon"],["dc.contributor.author","Nadem, Carine"],["dc.contributor.author","Ueda, Takahiro"],["dc.contributor.author","Khan, Sikandar C."],["dc.contributor.author","Metin, Ahmet"],["dc.contributor.author","Gozukara, Engm"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Slor, Hanoch"],["dc.contributor.author","Busch, David B."],["dc.contributor.author","Baker, Carl C."],["dc.contributor.author","DiGiovanna, John J."],["dc.contributor.author","Tamura, Deborah"],["dc.contributor.author","Seitz, Cornelia S."],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Wu, W."],["dc.contributor.author","Chung, Kee Yang"],["dc.contributor.author","Chung, Hye Jin"],["dc.contributor.author","Azizi, Esther"],["dc.contributor.author","Woodgate, Roger"],["dc.contributor.author","Schneider, Thomas D."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2018-11-07T11:12:33Z"],["dc.date.available","2018-11-07T11:12:33Z"],["dc.date.issued","2008"],["dc.description.abstract","Xeroderma 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.sponsorship","Intramural NIH HHS [Z01 BC008396-18, Z01 HD001500-25]"],["dc.identifier.doi","10.1038/jid.2008.48"],["dc.identifier.isi","258031700027"],["dc.identifier.pmid","18368133"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/53695"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","0022-202X"],["dc.title","Xeroderma pigmentosum-variant patients from America, Europe, and Asia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1443"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Nucleic Acids Research"],["dc.bibliographiccitation.lastpage","1452"],["dc.bibliographiccitation.volume","29"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Schneider, Thomas D."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.contributor.author","Khan, Sikandar G."],["dc.date.accessioned","2018-11-07T09:14:51Z"],["dc.date.available","2018-11-07T09:14:51Z"],["dc.date.issued","2001"],["dc.description.abstract","Defects in the XPG DNA repair endonuclease gene can result in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome complex. While the XPG cDNA sequence was known, determination of the genomic sequence was required to understand its different functions. In cells from normal donors, we found that the genomic sequence of the human XPG gene spans 30 kb, contains 15 exons that range from 61 to 1074 bp and 14 introns that range from 250 to 5763 bp, Analysis of the splice donor and acceptor sites using an information theory-based approach revealed three splice sites with low information content, which are components of the minor (U12) spliceosome, We identified six alternatively spliced XPG mRNA isoforms in cells from normal donors and from XPG patients: partial deletion of exon 8, partial retention of intron 8, two with alternative exons tin introns 1 and 6) and two that retained complete introns (introns 3 and 9), The amount of alternatively spliced XPG mRNA isoforms varied in different tissues. Most alternative splice donor and acceptor sites had a relatively high information content, but one has the U12 spliceosome sequence. A single nucleotide polymorphism has allele frequencies of 0.74 for 3507G and 0.26 for 3507C in 91 donors. The human XPG gene contains multiple splice sites with low information content in association with multiple alternatively spliced isoforms of XPG mRNA."],["dc.description.sponsorship","Intramural NIH HHS [Z01 BC004517-31]"],["dc.format.mimetype","application/pdf"],["dc.identifier.doi","10.1093/nar/29.7.1443"],["dc.identifier.fs","10209"],["dc.identifier.isi","000167970300006"],["dc.identifier.pmid","11266544"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?goescholar/4101"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27524"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0305-1048"],["dc.relation.issn","1362-4962"],["dc.rights","Goescholar"],["dc.rights.access","openAccess"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.subject","nucleic acids"],["dc.subject.ddc","610"],["dc.title","The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]