Allelic variants of the human putative peptide transporter involved in antigen processing

M. Colonna, M. Bresnahan, S. Bahram, J. L. Strominger, T. Spies

Research output: Contribution to journalArticle

218 Scopus citations

Abstract

Antigen processing for presentation of peptide epitopes by major histocompatibility complex (MHC) class I molecules involves genes in the MHC class II region. Among these, PSF1 and PSF2 encode subunits of a transporter, which presumably delivers cytosolic peptides across the endoplasmic reticulum membrane to class I molecules. This close functional relationship of the transporter and class I heavy chain genes and their linkage within the MHC raise the question of whether PSF1 and PSF2, like most class I genes, are polymorphic. By single-strand conformation polymorphism analysis and DNA sequencing, a small number of amino acid sequence variants of both PSF1 and PSF2 was identified in a panel of cell lines. This limited polymorphism may contribute to a higher degree of variability at the level of the functional transporter, in which different alleles of the PSF1 and PSF2 subunits may be combined. A possible involvement of the PSF1 and PSF2 genes in susceptibility to MHC-associated diseases was examined in a preliminary assessment in patients with ankylosing spondylitis, insulin-dependent diabetes mellitus, or celiac disease.

Original languageEnglish
Pages (from-to)3932-3936
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume89
Issue number9
DOIs
StatePublished - Jan 1 1992
Externally publishedYes

Keywords

  • ankylosing spondylitis
  • celiac disease
  • diabetes
  • major histocompatibility complex
  • transporter polymorphism

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