Cis-acting genetic variation at an E2F1/YY1 response site and putative p53 site is associated with altered allele-specific expression of ERCC5 (XPG) transcript in normal human bronchial epithelium
作者： Thomas M. Blomquist , Erin L. Crawford , James C. Willey
关键词:
摘要: ERCC5 (XPG) is a key component of the nucleotide excision DNA repair pathway. In two recent case-control studies, we determined that transcript expression pattern in grossly normal human bronchial epithelial cells (NBEC) was different individuals diagnosed with lung cancer compared non-lung controls. this study, tested hypothesis variation at cis-acting sites contributed to observed NBEC. Allele-specific (ASE) measured transcribed polymorphic site rs1047768 exon 2 NBEC complementary (cDNA) 22 using allele-specific competitive polymerase chain reaction. ASE then assessed for association allelotype rs751402 (E2F1 and YY1 recognition response site) rs2296147 (putative P53 proximal promoter 5' untranslated region, respectively, ERCC5. Interindividual recombination between rs751402, poly-heterozygotes controlled by sequencing. Measured T:C allelic ratio (i) significantly higher cDNA genomic controls (P < 0.001) among samples heterozygous both rs2296147; (ii) less high = 0.02) homozygous but (iii) not 0.18) doubly individuals. Here, demonstrate A allele T are associated
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