Population-specific variation in haplotype composition and heterozygosity at the POLB locus

Jennifer Yamtich, William C. Speed, Eva Straka, Judith R. Kidd, Joann B. Sweasy, Kenneth K. Kidd

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)579-584
Number of pages6
JournalDNA Repair
Volume8
Issue number5
DOIs
StatePublished - May 1 2009
Externally publishedYes

Keywords

  • Alleles
  • Haplotypes
  • POLB
  • Population genetics
  • Single nucleotide polymorphisms
  • Variation

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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