title: Human TAP1 polymorphisms detected by denaturing gradient gel electrophoresis.
abstract: Presentation of endogenous peptides by major histocompatibility complex class I (MHC) molecules is controlled, in part, by the Tap1 and Tap2 genes in the MHC class II region that encode a heterodimeric peptide transporter. Polymorphisms of human Tap1 in normal individuals have now been investigated systematically by denaturing gradient gel electrophoresis (DGGE) analysis of fragments of genomic DNA generated by the polymerase chain reaction. Polymorphisms identified by distinctive DGGE band patterns were confirmed by DNA sequencing. In addition to four previously described polymorphisms in the open reading frame, DGGE detected three new polymorphisms: a G-->T substitution in the promoter region, a 10-bp insert in intron 9, and a G-->T substitution 80-bp downstream of the translation termination codon.
authors.affiliation: Immunobiology Laboratory, Massachusetts General Hospital, Charlestown, USA.
authors.forename: L
authors.initials: L
authors.lastname: Shi
authors.forename: G
authors.initials: G
authors.lastname: Yan
authors.forename: Y
authors.initials: Y
authors.lastname: Fu
authors.forename: L
authors.initials: L
authors.lastname: Ma
authors.forename: A
authors.initials: A
authors.lastname: Penfornis
authors.forename: D
authors.initials: D
authors.lastname: Faustman
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005802:Genes, MHC Class II; D015894:Genome, Human; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; C073119:TAP1 protein, human