CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans.

Tara Stanton, Sally Boxall, Andrea Bennett, Pontiano Kaleebu, Christine Watera, Jimmy Whitworth, Neil French, Ritu Dawes, Adrian V S Hill, Walter Bodmer, Peter C L Beverley, Elma Z Tchilian

Journal: Immunogenetics 2004;56(2):107-10

PMID: 15057492

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Abstract

The CD45 (leucocyte common) antigen is a haemopoietic cell specific tyrosine phosphatase essential for antigen receptor signalling in lymphocytes, and expression of different CD45 isoforms is associated with distinct functions. Here we describe a novel polymorphism in exon 4 (A54G) of the gene encoding CD45 (PTPRC) that results in an amino acid substitution of Thr-19 to Ala in exon 4. The 54G allele was identified in African Ugandan populations and was found with a suggestive but not statistically significant increase in frequency amongst HIV-seropositive Ugandans. This suggests that the 54G variant and CD45 splicing abnormalities might be associated with HIV infection.

Address: Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, OX3 9DU, Oxford, UK.

DOI: 10.1007/s00251-004-0668-z

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https://dx.doi.org/10.1007/s00251-004-0668-z

MeSH Terms: Alternative Splicing, Amino Acid Substitution, Exons, Gene Frequency, Genetic Predisposition to Disease, HIV Infections, HIV Seropositivity, HIV-1, Humans, Leukocyte Common Antigens, Leukocytes, Mononuclear, Polymorphism, Genetic, Uganda