The genetic structure of 3'untranslated region of the HLA-G gene: polymorphisms and haplotypes

Genes Immun. 2010 Mar;11(2):134-41. doi: 10.1038/gene.2009.74. Epub 2009 Oct 1.

Abstract

The HLA-G gene is predominantly expressed at the maternal-fetal interface. It has been associated with maternal-fetal tolerance and in the inhibition of cytotoxic T lymphocyte and natural killer cytolytic functions. At least two variations in the 3'untranslated region (UTR) of HLA-G locus are associated with HLA-G expression levels, the 14-bp deletion/insertion polymorphism and the +3142 single-nucleotide polymorphism (SNP). However, this region has not been completely characterized yet. The variability of the 3'UTR of HLA-G gene and its haplotype structure were characterized in 155 individuals from Brazil, as well as HLA-G alleles associated with each of the 3'UTR haplotype. The following eight variation sites were detected: the 14-bp polymorphism and SNPs at the positions +3003T/C, +3010C/G, +3027A/C, +3035C/T, +3142G/C, +3187A/G and +3196C/G. Similarly, 11 different 3'UTR haplotypes were identified and several HLA-G alleles presented only one 3'UTR haplotype. In addition, a high linkage disequilibrium among the variation sites was detected, especially among the 14-bp insertion and the alleles +3142G and +3187A, all previously associated with low mRNA availability, demonstrating that their effects are not independent. The detailed analyses of 3'UTR of the HLA-G locus may shed some light into mechanisms underlying the regulation of HLA-G expression.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions*
  • Adult
  • Alleles
  • Brazil
  • Female
  • Genetic Structures*
  • HLA Antigens / genetics*
  • HLA-G Antigens
  • Haplotypes*
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Sequence Deletion

Substances

  • 3' Untranslated Regions
  • HLA Antigens
  • HLA-G Antigens
  • Histocompatibility Antigens Class I