Population-specific variation in haplotype composition and heterozygosity at the POLB locus.
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ABSTRACT:
SUBMITTER: Yamtich J
PROVIDER: S-EPMC2791466 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
Publications
Population-specific variation in haplotype composition and heterozygosity at the POLB locus.
Yamtich Jennifer J Speed William C WC Straka Eva E Kidd Judith R JR Sweasy Joann B JB Kidd Kenneth K KK
DNA repair 20090123 5
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 a ...[more]
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