A gene in the human major histocompatibility complex class II region controlling the class I antigen presentation pathway

Nature. 1990 Dec 20-27;348(6303):744-7. doi: 10.1038/348744a0.


Major histocompatibility complex (MHC) class I molecules export peptides to the cell surface for surveillance by cytotoxic T lymphocytes. Intracellular peptide binding is critical for the proper assembly and transport of class I molecules. This mechanism is impaired as a result of a non-functional peptide supply factor gene (PSF) in several human mutant cell lines with genomic lesions in the MHC. We have now identified PSF in the MHC class II region by deletion mapping in mutants and chromosome-walking. PSF is homologous to mammalian and bacterial ATP-dependent transport proteins, suggesting that it operates in the intracellular transport of peptides.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Antigen-Presenting Cells / immunology*
  • B-Lymphocytes / immunology
  • Base Sequence
  • Biological Transport, Active
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Cell Line
  • Chromosome Deletion
  • Chromosome Mapping
  • Cosmids
  • DNA / genetics
  • Deoxyribonucleases, Type II Site-Specific
  • Histocompatibility Antigens Class I / immunology*
  • Histocompatibility Antigens Class II / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Nucleic Acid Hybridization
  • RNA, Messenger / genetics
  • Sequence Homology, Nucleic Acid


  • Carrier Proteins
  • Histocompatibility Antigens Class I
  • Histocompatibility Antigens Class II
  • RNA, Messenger
  • DNA
  • endodeoxyribonuclease BSSHII
  • CCGCGG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific