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

Genes & Immunity volume 11, pages 134–141 (2010)Cite this article

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.

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Acknowledgements

We thank Sandra Rodrigues for her invaluable help.

Financial support: This study was supported by the Brazilian National Research Council (CNPq/Brazil—Grants 475670/2007-8 and 558476/2008-0). ECC is supported by a postdoctoral fellowship (07/58420-4) from FAPESP/Brazil. RTS and YCNM are supported by postdoctoral fellowships from CNPq/Brazil, Grants 151614/2008-3 and 504635/2008-5. CTMJ was supported by a travel grant (2009/06191-7) from FAPESP/Brazil to discuss this article.

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Authors and Affiliations

  1. Divisão de Imunologia Clínica, Departamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brasil

    E C Castelli, N H S Deghaide, R S de Albuquerque, Y C N Muniz, R T Simões & E A Donadi

  2. Departamento de Química, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brasil

    C T Mendes-Junior

  3. Commissariat à l′Energie Atomique/DSV/I2BM/Service de Recherches en Hémato-Immunologie, IUH, Hôpital Saint-Louis, Paris, France

    E D Carosella & P Moreau

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Correspondence to E C Castelli.

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Castelli, E., Mendes-Junior, C., Deghaide, N. et al. The genetic structure of 3′untranslated region of the HLA-G gene: polymorphisms and haplotypes. Genes Immun 11, 134–141 (2010). https://doi.org/10.1038/gene.2009.74

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