title: CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans.
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.
authors.affiliation: Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Cancer Research UK, John Radcliffe Hospital, OX3 9DU, Oxford, UK.
authors.forename: Tara
authors.initials: T
authors.lastname: Stanton
authors.forename: Sally
authors.initials: S
authors.lastname: Boxall
authors.forename: Andrea
authors.initials: A
authors.lastname: Bennett
authors.forename: Pontiano
authors.initials: P
authors.lastname: Kaleebu
authors.forename: Christine
authors.initials: C
authors.lastname: Watera
authors.forename: Jimmy
authors.initials: J
authors.lastname: Whitworth
authors.forename: Neil
authors.initials: N
authors.lastname: French
authors.forename: Ritu
authors.initials: R
authors.lastname: Dawes
authors.forename: Adrian V S
authors.initials: AV
authors.lastname: Hill
authors.forename: Walter
authors.initials: W
authors.lastname: Bodmer
authors.forename: Peter C L
authors.initials: PC
authors.lastname: Beverley
authors.forename: Elma Z
authors.initials: EZ
authors.lastname: Tchilian
mesh_terms: 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
chemical_list: D017493:Leukocyte Common Antigens