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CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans |
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| Authors: | 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 |
| Affiliation: | (1) Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, Oxford , OX3 9DU, UK;(2) The Edward Jenner Institute for Vaccine Research, Compton, Berks, RG20 7NN, UK;(3) MRC Programme on AIDS in Uganda, Uganda Virus Research Institute, P.O. Box 49, Entebbe, Uganda;(4) Liverpool School of Tropical Medicine, Pembroke Place, Liverpool, L3 5QA, UK;(5) Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford , OX3 7BN, UK |
| 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. |
| Keywords: | CD45 HIV Alternative splicing Polymorphisms Ugandan |
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