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

• Published in: Immunogenetics (New York) 2004-05, Vol.56 (2), p.107-110
• Main Authors: Stanton, Tara, Boxall, Sally, Bennett, Andrea, Kaleebu, Pontiano, Watera, Christine, Whitworth, Jimmy, French, Neil, Dawes, Ritu, Hill, Adrian V S, Bodmer, Walter, Beverley, Peter C L, Tchilian, Elma Z
• Format: Article
• Language: English
• Subjects: Alternative Splicing; Amino Acid Substitution; Amino acids; Exons - genetics; Gene Frequency; Genetic Predisposition to Disease; HIV; HIV Infections - genetics; HIV Infections - immunology; HIV Seropositivity; HIV-1; Human immunodeficiency virus; Humans; Leukocyte Common Antigens - genetics; Leukocyte Common Antigens - metabolism; Leukocytes, Mononuclear - immunology; Lymphocytes; Polymorphism, Genetic - genetics; Proteins; Uganda
• ISSN: 0093-7711; 1432-1211
• DOI: 10.1007/s00251-004-0668-z

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.