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

Author(s)

Castelli, E. C. ; Mendes-Junior, C. T. ; Deghaide, N. H. S. ; de Albuquerque, R. S. ; Muniz, Y. C. N. ; Simoes, R. T. ; Carosella, E. D. ; Moreau, P. ; Donadi, E. A.

• Document type: Journal article
• Source: Genes and Immunity; v. 11, n. 2, p. 8-pg., 2010-03-01.

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. Genes and Immunity (2010) 11, 134-141; doi: 10.1038/gene.2009.74; published online 1 October 2009 (AU)

• FAPESP's process: 09/06191-7 - 5th International Conference on HLA-G
• Grantee: Celso Teixeira Mendes Junior
• Support Opportunities: Research Grants - Meeting - Abroad