An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer.

ABSTRACT: Genome-wide association studies (GWAS) routinely identify risk variants in noncoding DNA, as exemplified by reports of multiple single nucleotide polymorphisms (SNPs) associated with prostate cancer in five independent regions in a gene desert on 8q24. Two of these regions also have been associated with breast and colorectal cancer. These findings implicate functional variation within long-range cis-regulatory elements in disease etiology. We used an in vivo bacterial artificial chromosome (BAC) enhancer-trapping strategy in mice to scan a half-megabase of the 8q24 gene desert encompassing the prostate cancer-associated regions for long-range cis-regulatory elements. These BAC assays identified both prostate and mammary gland enhancer activities within the region. We demonstrate that the 8

SUBMITTER: Wasserman NF 

PROVIDER: S-EPMC2928497 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature