The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters

Mol Cell Biol. 1992 Sep;12(9):4076-83. doi: 10.1128/mcb.12.9.4076-4083.1992.

Abstract

The X box of major histocompatibility complex class II promoters is essential for proper expression of class II genes. Here we show that two distinct protein-DNA complexes (A and B), which exhibit similar binding characteristics and identical contact points on the X box, can be formed. This suggests the existence of a family of related X box-binding factors. Complex B (and not complex A) is specifically affected in primary combined immunodeficiency, a congenital defect in class II gene regulation. RFX1, the first X box-binding protein cloned, encodes a functionally relevant factor present in complex A and not in complex B as originally suspected. This report also illustrates the need for caution in correlating specific cloned proteins with nuclear factors identified by DNA-binding assays, particularly when dealing with families of related proteins.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cell Line, Transformed
  • Cloning, Molecular
  • DNA / metabolism*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Gene Expression Regulation*
  • Genes, MHC Class II*
  • Humans
  • Leukemia, B-Cell / genetics
  • Leukemia, B-Cell / immunology
  • Molecular Sequence Data
  • Mutation*
  • Promoter Regions, Genetic*
  • Regulatory Factor X Transcription Factors
  • Regulatory Factor X1
  • Severe Combined Immunodeficiency / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Tumor Cells, Cultured

Substances

  • DNA-Binding Proteins
  • RFX1 protein, human
  • Regulatory Factor X Transcription Factors
  • Regulatory Factor X1
  • Transcription Factors
  • DNA