Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1

Nat Genet. 2004 Apr;36(4):394-9. doi: 10.1038/ng1331. Epub 2004 Mar 28.

Abstract

Genetic variation at the human LTA locus, encoding lymphotoxin-alpha, is associated with susceptibility to myocardial infarction, asthma and other diseases. By detailed haplotypic analysis of the locus, we identified a single-nucleotide polymorphism (SNP) at LTA+80 as a main predictor of LTA protein production by human B cells. We found that activated B-cell factor-1 (ABF-1) binds to this site in vitro and suppresses reporter gene expression, but only in the presence of the LTA+80A allele. Using haplotype-specific chromatin immunoprecipitation, we confirmed that ABF-1 is preferentially recruited to the low-producer allele in vivo. These findings provide a molecular model of how LTA expression may be genetically regulated by allele-specific recruitment of the transcriptional repressor ABF-1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Cell Line, Transformed
  • Electrophoretic Mobility Shift Assay
  • Gene Expression Regulation / physiology*
  • Haplotypes
  • Humans
  • Lymphotoxin-alpha / genetics*
  • Plasmids
  • Precipitin Tests

Substances

  • Lymphotoxin-alpha