| http://purl.uniprot.org/citations/19414788 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19414788 | http://www.w3.org/2000/01/rdf-schema#comment | "Patients with the variant form of xeroderma pigmentosum (XPV) syndrome have a genetic deficiency in DNA polymerase (Pol) eta, and display accordingly an increased skin sensitivity to UV light, as well as an altered mutation pattern of their Ig V genes in memory B cells, alteration that consists in a reduced mutagenesis at A/T bases. We previously suggested that another polymerase with a different mutation signature, Pol kappa, is used as backup for Ig gene hypermutation in both humans and mice in cases of complete Pol eta deficiency, a proposition supported in this study by the analysis of Pol eta x Pol kappa double-deficient mice. We also describe a new XPV case, in which a splice site mutation of the first noncoding exon results in a decreased mRNA expression, a mRNA that otherwise encodes a normal Pol eta protein. Whereas the Pol eta mRNA level observed in patient's fibroblasts is one-twentieth the value of healthy controls, it is only reduced to one-fourth of the normal level in activated B cells. Memory B cells from this patient showed a 50% reduction in A/T mutations, with a spectrum that still displays a strict Pol eta signature. Pol eta thus appears as a dominant enzyme in hypermutation, its presence precluding the use of a substitute enzyme even in conditions of reduced availability. Such a dominant behavior may explain the lack of Pol kappa signature in Ig gene mutations of some XPV patients previously described, for whom residual Pol eta activity might exist."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.org/dc/terms/identifier | "doi:10.4049/jimmunol.0900177"xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Weller S."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Sarasin A."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Aoufouchi S."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Delbos F."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Faili A."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Reynaud C.A."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Weill J.C."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/author | "Stary A."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/name | "J Immunol"xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/pages | "6353-6359"xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/title | "A backup role of DNA polymerase kappa in Ig gene hypermutation only takes place in the complete absence of DNA polymerase eta."xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://purl.uniprot.org/core/volume | "182"xsd:string |
| http://purl.uniprot.org/citations/19414788 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19414788 |
| http://purl.uniprot.org/citations/19414788 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/19414788 |
| http://purl.uniprot.org/uniprot/#_A0A3B2WAL6-mappedCitation-19414788 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19414788 |
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| http://purl.uniprot.org/uniprot/#_I6L9K1-mappedCitation-19414788 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19414788 |
| http://purl.uniprot.org/uniprot/#_Q922H5-mappedCitation-19414788 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19414788 |
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| http://purl.uniprot.org/uniprot/#_Q5Q9G9-mappedCitation-19414788 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19414788 |