title: Allelic variants of the human putative peptide transporter involved in antigen processing.
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.
authors.affiliation: Division of Tumor Virology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115.
authors.forename: M
authors.initials: M
authors.lastname: Colonna
authors.forename: M
authors.initials: M
authors.lastname: Bresnahan
authors.forename: S
authors.initials: S
authors.lastname: Bahram
authors.forename: J L
authors.initials: JL
authors.lastname: Strominger
authors.forename: T
authors.initials: T
authors.lastname: Spies
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; D000483:Alleles; D000941:Antigens / Q000378:metabolism*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002446:Celiac Disease / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D006239:Haplotypes; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008285:Major Histocompatibility Complex; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D013167:Spondylitis, Ankylosing / Q000235:genetics
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; D000941:Antigens; D002352:Carrier Proteins; D000949:Histocompatibility Antigens Class II; D008565:Membrane Proteins; D015345:Oligonucleotide Probes; C073119:TAP1 protein, human