Abstract
The class II region of the human major histocompatibility complex (MHC) contains a cluster of highly polymorphic genes organized into at least three subloci (DR, DQ, and DP), each encoding a subset of surface antigens participating in the modulation of the immune response. Genetic diversity in this system is brought about by two major mechanisms, hypermutation and trans-species evolution. The DQ subregion contains a pair of closely related A genes, HLA-DQA1 and HLA-DQA2, whose phylogenetic relationship is uncertain, although their generation by duplication of an ancestral A gene before or after speciation can be implied. We report here the presence of a member of the Alu repetitive family immediately 5′ to the HLA-DQA1 gene. The sequence of this element indicates that it may have integrated by transposition at the time of divergence of hominoids from Old World monkeys. HLA-DQA2 carries an empty integration target site in place of the Alu, thereby suggesting that the insertion of Alu near HLA-DQA1 was preceded by the separation of the two genes.
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The nucleotide sequence data reported in this paper have been submitted to the GenBank nucleotide sequence database and have been assigned the accession number M32372.
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Del Pozzo, G., Guardiola, J. A SINE insertion provides information on the divergence of the HLA-DQA1 and HLA-DQA2 genes. Immunogenetics 31, 229–232 (1990). https://doi.org/10.1007/BF00204892
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DOI: https://doi.org/10.1007/BF00204892