Journal article
Identification of novel Tapasin polymorphisms and linkage disequilibrium to MHC class I alleles
Immunogenetics, Vol.52(1-2), pp.9-11
2000
Abstract
Tapasin is a Mr 48,000 glycoprotein and has a specialized role in MHC class I-restricted antigen presentation. It is encoded by a gene which maps centromeric to the MHC class II region of human Chromosome 6 within 200 kb of HLA-DP. There is variable dependence upon tapasin for MHC class I expression among different MHC class I alleles. HLA-B*4402 and to a lesser extent HLA-A1 and B8 are tapasin dependent, whereas HLA-B27, A2 and to a lesser extent B7 and A3 are tapasin independent. We investigated whether tapasin is polymorphic and whether these Tapasin alleles are in linkage with any MHC class I alleles. We identified three new mutations within intron 4, which are in a particular linkage with the previously described exon 4 (G16003C) dimorphism. The intronic mutations are G16146T, G16232A, and T16317A (numbering according to cosmid clone F0811; GenBank accession number Z97184). The allele frequency of Tapasin*01 (G16003) was 0.47 and Tapasin*02 (C16003) was 0.53 in this UK population. Four of the eight possible intronic haplotypes were identified and their cis linkage with the tapasin dimorphism ascertained. Tapasin*01 was associated with all the identified haplotypes, while Tapasin*02 was only associated with the wild-type intronic sequence (GGT). There was no significant linkage (P>0.01) of the Tapasin dimorphism or new Tapasin alleles to any of the MHC class I A, B, or C alleles studied or to the extended A1 B8 DR3 haplotype.
Details
- Title
- Identification of novel Tapasin polymorphisms and linkage disequilibrium to MHC class I alleles
- Authors/Creators
- A.P. Williams (Author/Creator)S. Bevan (Author/Creator)M. Bunce (Author/Creator)R. Houlston (Author/Creator)K.I. Welsh (Author/Creator)T. Elliott (Author/Creator)
- Publication Details
- Immunogenetics, Vol.52(1-2), pp.9-11
- Publisher
- Springer-Verlag
- Identifiers
- 991005543816807891
- Copyright
- 2000 Springer-Verlag
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.6 Immunology
- 1.6.607 MHC Diversity
- Web Of Science research areas
- Genetics & Heredity
- Immunology
- ESI research areas
- Immunology