http://purl.uniprot.org/citations/12893086 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/12893086 | http://www.w3.org/2000/01/rdf-schema#comment | "This study correlated the extent of induced in vitro chromosomal damage, assessed by the mutagen sensitivity assay, with genotypes of the X-ray repair cross complementing group 1 (XRCC1) gene, which encodes for a base excision repair protein. There are two common polymorphisms that cause amino acid substitutions in XRCC1, one at codon 194 in exon 6 and another at codon 399 in exon 10. We genotyped these two polymorphisms in 524 healthy subjects and performed mutagen sensitivity assays using both bleomycin and benzo[a]pyrene-diol-epoxide (BPDE) as challenge mutagens. Our results showed that individuals with the wildtype exon 6 Arg/Arg exhibited significantly higher values of chromosomal breaks per cell (b/c) than those with one or two variant Trp alleles (P=0.005 for bleomycin and P=0.05 for BPDE). For the exon 10 polymorphism, subjects who were Gln/Gln homozygotes had higher b/c than did those with other genotypes, with evidence of a gene dosage effect. When we combined the two polymorphic sites and used the exon 6 Arg/Trp and Trp/Trp and exon 10 Arg/Arg genotypes as the reference category, these differences were enhanced for bleomycin sensitivity (P for trend = 0.032), but not for BPDE sensitivity (P for trend = 0.821). These data are biologically plausible since codon 399 is located within the BRCA1 C-terminus functional domain and codon 194 is in the linker region of the XRCC1 N-terminal functional domain. To our knowledge, this is the largest study conducted evaluating the functional relevance of these polymorphisms."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.org/dc/terms/identifier | "doi:10.1016/s1568-7864(03)00085-5"xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/author | "Wang Y."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/author | "Wu X."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/author | "Zhu Y."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/author | "Dong Q."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/author | "Shete S."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/author | "Spitz M.R."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/name | "DNA Repair (Amst)"xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/pages | "901-908"xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/title | "From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity."xsd:string |
http://purl.uniprot.org/citations/12893086 | http://purl.uniprot.org/core/volume | "2"xsd:string |
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