PMID- 9151396 OWN - NLM STAT- MEDLINE DCOM- 19970701 LR - 20190826 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 49 IP - 4 DP - 1997 Apr TI - Human TAP1 polymorphisms detected by denaturing gradient gel electrophoresis. PG - 421-6 AB - 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. FAU - Shi, L AU - Shi L AD - Immunobiology Laboratory, Massachusetts General Hospital, Charlestown, USA. FAU - Yan, G AU - Yan G FAU - Fu, Y AU - Fu Y FAU - Ma, L AU - Ma L FAU - Penfornis, A AU - Penfornis A FAU - Faustman, D AU - Faustman D LA - eng GR - DE11023A-02/DE/NIDCR NIH HHS/United States GR - DE11151A-03/DE/NIDCR NIH HHS/United States PT - Journal Article PT - Research Support, U.S. Gov't, P.H.S. PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 2) RN - 0 (ATP-Binding Cassette Transporters) RN - 0 (TAP1 protein, human) SB - IM MH - ATP Binding Cassette Transporter, Subfamily B, Member 2 MH - ATP-Binding Cassette Transporters/*genetics MH - Electrophoresis, Polyacrylamide Gel MH - *Genes, MHC Class II MH - Genome, Human MH - Humans MH - *Polymorphism, Genetic EDAT- 1997/04/01 00:00 MHDA- 1997/04/01 00:01 CRDT- 1997/04/01 00:00 PHST- 1997/04/01 00:00 [pubmed] PHST- 1997/04/01 00:01 [medline] PHST- 1997/04/01 00:00 [entrez] AID - 10.1111/j.1399-0039.1997.tb02772.x [doi] PST - ppublish SO - Tissue Antigens. 1997 Apr;49(4):421-6. doi: 10.1111/j.1399-0039.1997.tb02772.x.