title: The novel allele (3R) of the VNTR polymorphism in the XRCC5 promoter region dramatically decreases the gene expression.
abstract: Polymorphism of variable number of tandem repeats (VNTR) in the promoter region of X-ray repair cross-complementing 5 (MIM: 194364, XRCC5; rs6147172) was reported. The aim of the present study is to evaluate the influence of this polymorphism on XRCC5 mRNA levels. Genotypes of XRCC5 VNTR were determined by high resolution of melting analysis (HRMA). The quantitative XRCC5 mRNA expression (compared to ß-actin expression) among 0R/1R, 1R/2R, and 1R/3R genotypes was investigated. There was a negative correlation between the overall number of tandem repeats and XRCC5 expression (r=-0.965, df=7, P<0.001). The mRNA level of XRCC5 decreased as function of number of tandem repeats. The 3R allele of the VNTR polymorphism in the XRCC5 promoter region dramatically decreases the gene expression.
authors.affiliation: Department of Biology, College of Sciences, Shiraz University, Shiraz 71454, Iran.
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Rajaei
authors.forename: Iraj
authors.initials: I
authors.lastname: Saadat
authors.forename: Mostafa
authors.initials: M
authors.lastname: Saadat
mesh_terms: D000483:Alleles; D001773:Blood Cells / Q000378:metabolism; D004265:DNA Helicases / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D000072200:Ku Autoantigen; D018598:Minisatellite Repeats / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D004265:DNA Helicases; C106893:XRCC5 protein, human; D000072200:Ku Autoantigen