title: Population-specific variation in haplotype composition and heterozygosity at the POLB locus.
abstract: DNA polymerase beta plays a central role in base excision repair (BER), which removes large numbers of endogenous DNA lesions from each cell on a daily basis. Little is currently known about germline polymorphisms within the POLB locus, making it difficult to study the association of variants at this locus with human diseases such as cancer. Yet, approximately thirty percent of human tumor types show variants of DNA polymerase beta. We have assessed the global frequency distributions of coding and common non-coding SNPs in and flanking the POLB gene for a total of 14 sites typed in approximately 2400 individuals from anthropologically defined human populations worldwide. We have found a marked difference between haplotype frequencies in African populations and in non-African populations.
authors.affiliation: Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, United States.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Yamtich
authors.forename: William C
authors.initials: WC
authors.lastname: Speed
authors.forename: Eva
authors.initials: E
authors.lastname: Straka
authors.forename: Judith R
authors.initials: JR
authors.lastname: Kidd
authors.forename: Joann B
authors.initials: JB
authors.lastname: Sweasy
authors.forename: Kenneth K
authors.initials: KK
authors.lastname: Kidd
mesh_terms: D000328:Adult; D019951:DNA Polymerase beta / Q000235:genetics*; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044382:Population Groups / Q000235:genetics*
chemical_list: D019951:DNA Polymerase beta