New polymorphisms within the human TAP1 and TAP2 coding regions
- Hopital Saint-Louis, Paris (France)
Two genes, TAP1 and TAP2, both located in the HLS class II region, have been identified as genes coding for membrane transporters belonging to the ABC (ATP Binding Cassette) superfamily. The products of the TAP1 and TAP2 genes form an heterodimeric complex which delivers cytosolic peptides into the endoplasmic reticulum prior to the assembly of class I molecules. Previous studies in homozygous cell lines have revealed a limited degree of allelic variation in humans: only two TAP1 and four TAP2 polymorphic sites. In addition to these TAP1 polymorphisms, three others were identified, two of which were found in diabetic patients. For the TAP2 gene, four additional mutations have been reported. In the present study, polymorphism within TAP1 and TAP2 cDNA was analyzed by the single strand conformation polymorphism (SSCP) method in 32 HLA homozygous cell lines from the Tenth International Histocompatibility Workshop. Since previous studies had suggested that polymorphisms of the TAP genes were localized in the C-terminal half of the molecules, we concentrated our investigation on the 3` half of TAP1 and TAP2 coding sequences. In summary, our study has revealed two new substitutions in TAP2 cDNA. One, located in the ATP binding site, is a coding substitution exchanging an Arginine to a Cysteine. This mutation may increase the potential combinations of dimorphisms and thus the number of TAP2 alleles, and may be functionally relevant. 8 refs., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 54882
- Journal Information:
- Immunogenetics, Journal Name: Immunogenetics Journal Issue: 3 Vol. 40; ISSN 0093-7711; ISSN IMNGBK
- Country of Publication:
- United States
- Language:
- English
Similar Records
Genomic polymorphism, recombination, and linkage disequilibrium in human major histocompatibility complex-encoded antigen-processing genes
Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus
Characterization of recombination in the HLA class II region
Journal Article
·
Mon Nov 30 23:00:00 EST 1992
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:6336957
Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus
Journal Article
·
Thu Jun 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:91190
Characterization of recombination in the HLA class II region
Journal Article
·
Fri Jan 31 23:00:00 EST 1997
· American Journal of Human Genetics
·
OSTI ID:518519