The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans.

Journal article

The leukocyte common (CD45) Ag is essential for normal T lymphocyte function and alternative splicing at the N terminus of the gene is associated with changes in T cell maturation and differentiation. Recently, a statistically significant association was reported in a large series of human thymus samples between phenotypically abnormal CD45 splicing and the presence of the CC chemokine receptor 5 deletion 32 (CCR5del32) allele, which confers resistance to HIV infection in homozygotes. We show...

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Authors: Tchilian, E; Wallace, D; Imami, N; Liao, H; Burton, C

• Journal: Journal of Immunology
• Volume: 166
• Issue: 10
• Pages: 6144-6148
• Publication date: 2001-05-01
• DOI: 10.4049/jimmunol.166.10.6144
• EISSN: 1550-6606
• ISSN: 0022-1767
• Language: English
• Keywords: Point Mutation; Genetic Linkage; Humans; Protein Tyrosine Phosphatases; Receptors, CCR5; Alternative Splicing; Thymus Gland; Sequence Deletion; Flow Cytometry; Leukocytes, Mononuclear; Antigens, CD45; Guanine; Cytosine; Exons; Child