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Title: CD80 and CD86 polymorphisms in populations of various ancestries: 5 new CD80 promoter alleles
Authors: BELTRAME, Marcia HolsbachPINCERATI, Marcia ReginaDALLA-COSTA, RicardoWASSEM, RoseliKOEHLER, Karen FrancineCHAUTARD-FREIRE-MAIA, Eleidi AliceTSUNETO, Luiza TamiePETZL-ERLER, Maria Luiza
Citation: HUMAN IMMUNOLOGY, v.73, n.1, p.111-117, 2012
Abstract: CD80 and CD86 are closely linked genes on chromosome 3 that code for glycoproteins of the immunoglobulin superfamily, expressed on the surface of antigen-presenting cells. These costimulatory molecules play essential roles for stimulation and inhibition of T cells through binding to CD28 and CTLA-4 receptors. In this study, CD80 promoter and CD86 exon 8 polymorphisms were analyzed to investigate the genetic diversity and microevolution of the 2 genes. We genotyped 1,124 individuals, including Brazilians of predominantly European, mixed African and European, and Japanese ancestry, 5 Amerindian populations, and an African sample. All variants were observed in Africans, which suggests their origin in Africa before the human migrations out of that continent. Five new CD80 promoter alleles were identified and confirmed by cloning and sequencing, and promoter 2 is most likely the ancestral allele. Nucleotide -79 is monomorphic in 4 Amerindian populations, where the presence of the -79 G allele is probably the result of gene flow from non-Amerindians.
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Artigos e Materiais de Revistas Científicas - HC/InCor
Instituto do Coração - HC/InCor

Artigos e Materiais de Revistas Científicas - LIM/19
LIM/19 - Laboratório de Histocompatibilidade e Imunidade Celular

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