Linkage of the CCR5 Delta 32 mutation with a functional polymorphism of CD45RA

J Immunol. 2000 Jul 1;165(1):148-57. doi: 10.4049/jimmunol.165.1.148.

Abstract

A 32-bp deletion in CCR5 (CCR5 Delta 32) 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 CCR5 Delta 32 mutation. We found that thymocyte development was normal in both CCR5 Delta 32 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 CCR5 Delta 32 mutation (p = 0.00258). In vitro HIV-1 infection assays with CCR5-using primary isolates demonstrated that thymocytes with the heterozygous CCR5 Delta 32 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 CCR5 Delta 32 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 CCR5 Delta 32 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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Genetic Linkage*
  • HIV Infections / genetics
  • HIV Infections / immunology
  • Humans
  • Immunity, Innate / genetics
  • Immunophenotyping
  • Infant
  • Infant, Newborn
  • Leukocyte Common Antigens / biosynthesis
  • Leukocyte Common Antigens / genetics*
  • Leukocyte Common Antigens / physiology
  • Leukocytes, Mononuclear / immunology
  • Leukocytes, Mononuclear / metabolism
  • Lymphocyte Subsets / immunology
  • Lymphocyte Subsets / metabolism
  • Lymphocyte Subsets / virology
  • Middle Aged
  • Mutation*
  • Organ Culture Techniques
  • Polymorphism, Genetic*
  • Receptors, CCR5 / biosynthesis
  • Receptors, CCR5 / genetics*
  • Thymus Gland / cytology
  • Thymus Gland / immunology
  • Thymus Gland / metabolism

Substances

  • Receptors, CCR5
  • Leukocyte Common Antigens