Linkage of the CCR5Δ32 mutation with a functional polymorphism of CD45RA

Hua Xin Liao, David C. Montefiori, Dhavalkumar D. Patel, David M. Lee, William K. Scott, Margaret Pericak-Vance, Barton F. Haynes

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


A 32-bp deletion in CCR5 (CCR5Δ32) confers to PBMC resistance to HIV-1 isolates that use CCR5 as a coreceptor. To study this mutation in T cell development, we have screened 571 human thymus tissues for the mutation. We identified 72 thymuses (12.6%) that were heterozygous and 2 (0.35%) that were homozygous for the CCR5Δ32 mutation. We found that thymocyte development was normal in both CCR5Δ32 heterozygous and homozygous thymuses. In 3% of thymuses we identified a functional polymorphism of CD45RA, in which cortical and medullary thymocytes failed to down-regulate the 200- and 220-kDa CD45RA isoforms during T cell development. Moreover, we found an association of this CD45 functional polymorphism in thymuses with the CCRSΔ32 mutation (p = 0.00258). In vitro HIV-1 infection assays with CCR5-using primary isolates demonstrated that thymocytes with the heterozygous CCR5Δ32 mutation produced less p24 than did CCR5 wild-type thymocytes. However, the functional CD45RA polymorphism did not alter the susceptibility of thymocytes to HIV-1 infection. Taken together, these data demonstrate association of the CCR5A32 mutation with a polymorphism in an as yet unknown gene that is responsible for the ability to down-regulate the expression of high m.w. CD45RA isoforms. Although the presence of the CCR5Δ32 mutation down-regulates HIV-1 infection of thymocytes, the functional CD45RA polymorphism does not alter the susceptibility of thymocytes to HIV-1 infection in vitro.

Original languageEnglish (US)
Pages (from-to)148-157
Number of pages10
JournalJournal of Immunology
Issue number1
StatePublished - Jul 1 2000
Externally publishedYes

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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