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A CD45 polymorphism associated with abnormal splicing is absent in African populations

Tchilian, EZ; Dawes, R; Ramaley, PA; Whitworth, JA; Yuldasheva, N; Wells, RS; Watera, C; ... Beverley, PCL; + view all (2002) A CD45 polymorphism associated with abnormal splicing is absent in African populations. IMMUNOGENETICS , 53 (10-11) 980 - 983. 10.1007/s00251-001-0410-z.

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Abstract

The CD45 antigen is essential for normal antigen receptor-mediated signalling in lymphocytes, and different patterns of splicing of CD45 are associated with distinct functions in lymphocytes. Abnormal CD45 splicing has been recognized in humans, caused by a C77G transversion in the gene encoding CD45 (PTPRC). Recently the C77G poly morph ism has been associated with multiple sclerosis and increased susceptibility to HIV-1 infection. These studies suggest that the regulation of CD45 splicing may be critical for the proper function of the immune system. Because of these data we examined the frequency of the C77G allele in African and Asian populations from countries with high or low prevalence of HIV infection. Here we report that the variant CD45 C77G allele is absent in African populations. We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant.

Type: Article
Title: A CD45 polymorphism associated with abnormal splicing is absent in African populations
DOI: 10.1007/s00251-001-0410-z
Keywords: CD45, PTPRC, polymorphism, humans, splicing, TYROSINE-PHOSPHATASE CD45, POINT MUTATION, ANTIGENIC DIFFERENCES, CELL MATURATION, EXON-A, GENE, MICE, LYMPHOHISTIOCYTOSIS, EXPRESSION, SELECTION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
URI: http://discovery.ucl.ac.uk/id/eprint/1334821
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