A common mutation in the hominoid class I A-locus IFN-responsive element results in the loss of enhancer activity

Int Immunol. 1995 May;7(5):853-9. doi: 10.1093/intimm/7.5.853.

Abstract

Despite the observed coordinate expression of HLA-A and -B antigens in somatic tissues, there is growing evidence that the A and B class I genes are differentially regulated at the transcriptional level. Previous studies indicate that this may be related to locus-specific structural differences in certain enhancer elements. We have recently examined the 5' proximal regulatory regions of the A and B homologs in the higher non-human primates and found pronounced differences between the loci. Sequence analysis shows the B-promoters are more homogeneous, whereas the A-locus promoters are divergent among the various species examined. The differences in A- and B-promoters is exemplified by the regulatory element referred to as the IFN-responsive element (IRE). While the B-locus IRE is conserved among all primates examined, the A-locus IRE are divergent and reveal different sequences in the human/chimpanzee, gorilla and orang-utan. In reporter gene bioassays, the B-locus IRE exhibited an enhancer activity in response to induction with IFN-beta and IFN-gamma. In contrast, all the variants of the A-locus IRE found in hominoid primates were unresponsive to IFN. One base substitution shared by all the primate IREs proved to be inactivating. These results provide a molecular basis of how duplicated gene loci encoding structurally and functionally similar antigen-presenting molecules may become differentially responsive to physiological stimulus.

Publication types

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

MeSH terms

  • Animals
  • Base Sequence
  • DNA-Binding Proteins / genetics
  • Enhancer Elements, Genetic* / immunology
  • Genes, MHC Class I / immunology*
  • HLA-A Antigens / biosynthesis
  • HLA-A Antigens / genetics
  • Haplorhini
  • HeLa Cells
  • Humans
  • Interferon Regulatory Factor-1
  • Leukemia, Erythroblastic, Acute
  • Luciferases / genetics
  • Mice
  • Molecular Sequence Data
  • Mutation*
  • Phosphoproteins / genetics
  • Plasmids
  • Tumor Cells, Cultured

Substances

  • DNA-Binding Proteins
  • HLA-A Antigens
  • IRF1 protein, human
  • Interferon Regulatory Factor-1
  • Irf1 protein, mouse
  • Phosphoproteins
  • Luciferases