Inherited immunodeficiency with a defect in a major histocompatibility complex class II promoter-binding protein differs in the chromatin structure of the HLA-DRA gene

Mol Cell Biol. 1989 Jan;9(1):296-302. doi: 10.1128/mcb.9.1.296-302.1989.

Abstract

A defect in a trans-regulatory factor which controls major histocompatibility complex class II gene expression is responsible for an inherited form of immunodeficiency with a lack of expression of human leukocyte antigen (HLA) class II antigens. We have recently described and cloned an HLA class II promoter DNA-binding protein, RF-X, present in normal B cells and absent in these class II-deficient regulatory mutants. Here we report that these in vitro results correlate with a specific change in the chromatin structure of the class II promoter: two prominent DNase I-hypersensitive sites were identified in the promoter of the HLA-DRA gene in normal B lymphocytes and found to be absent in the class II-deficient mutant cells. The same two prominent DNase I-hypersensitive sites were observed in normal fibroblastic cells induced by gamma interferon to express class II genes. Interestingly, they were also observed in the uninduced class II-negative fibroblastic cells, which have also been shown to have a normal RF-X binding pattern. We conclude that the two DNase I-hypersensitive sites in the HLA-DRA promoter reflect features in chromatin structure which correlate with the binding of the trans-acting factor RF-X and which are necessary but not sufficient for the expression of class II genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Lymphocytes / metabolism
  • Blotting, Southern
  • Cell Line, Transformed
  • Chromatin / analysis*
  • DNA-Binding Proteins / genetics*
  • Deoxyribonuclease I
  • Genes, MHC Class II*
  • HLA-D Antigens / genetics*
  • Herpesvirus 4, Human / metabolism
  • Histocompatibility Antigens Class II / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Mutation
  • Promoter Regions, Genetic*
  • RNA / analysis

Substances

  • Chromatin
  • DNA-Binding Proteins
  • HLA-D Antigens
  • Histocompatibility Antigens Class II
  • RNA
  • Deoxyribonuclease I