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 ORCID logo; Christine Watera; Jimmy Whitworth ORCID logo; Neil French; Ritu Dawes; Adrian VS Hill; Walter Bodmer; +2 more... Peter CL Beverley; Elma Z Tchilian; (2004) CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans. Immunogenetics, 56 (2). pp. 107-110. ISSN 0093-7711 DOI: 10.1007/s00251-004-0668-z
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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.

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