CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans.
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.
Stanton
Tara
T
Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, OX3 9DU, Oxford, UK.
Boxall
Sally
S
Bennett
Andrea
A
Kaleebu
Pontiano
P
Watera
Christine
C
Whitworth
Jimmy
J
French
Neil
N
Dawes
Ritu
R
Hill
Adrian V S
AV
Bodmer
Walter
W
Beverley
Peter C L
PC
Tchilian
Elma Z
EZ
D017398:Alternative Splicing; D019943:Amino Acid Substitution; D005091:Exons / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D015658:HIV Infections / Q000235:genetics* / Q000276:immunology; D006679:HIV Seropositivity; D015497:HIV-1; D006801:Humans; D017493:Leukocyte Common Antigens / Q000235:genetics* / Q000378:metabolism; D007963:Leukocytes, Mononuclear / Q000276:immunology; D011110:Polymorphism, Genetic / Q000235:genetics*; D014454:Uganda
D017493:Leukocyte Common Antigens