Peptide transport in human lymphoblastoid and tumor cells: effect of transporter associated with antigen presentation (TAP) polymorphism

Quadri, Shafat A.; Singal, D. P.

doi:10.1016/s0165-2478(97)00157-0

Cited by 42 publications

(34 citation statements)

References 41 publications

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“…Thus, it is possible that changes in function and/or expression patterns of TAP or LMP proteins could influence the peptide repertoire expressed to circulating lymphocytes, and allow for the induction of inappropriate immune events to cryptic epitopes of self-peptides for which the immune system has not been made tolerant. TAP1 amino-acid polymorphisms, including D637G (in this report) and I333V, have been reported to influence the permissiveness of transport of specific peptides across the endoplasmic reticulum in some models, 40 and the TAP2 polymorphism T665A (in this report) has been suggested to influence the antibody response to measles virus vaccine. 41 Two functional studies of human TAP polymorphisms, however, revealed no significant influence of human TAP1 or TAP2 alleles on peptide binding and translocation.…”

Section: Discussionmentioning

confidence: 56%

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

She

McCormack

2003

Genes Immun

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Genes within the class II region of the major histocompatibility complex (MHC), including genes involved in antigen processing and presentation, have been reported to be associated with several autoimmune diseases. We report here that the LMP/TAP gene region is significantly associated with vitiligo, a disorder in which biochemical defects and/or autoimmune destruction cause melanocyte loss and resulting skin depigmentation. Case/control analyses revealed genetic association of vitiligo in Caucasian patients with an early age of onset with the transporter associated with antigen processing-1 (TAP1) gene. A familybased association method revealed biased transmission of specific alleles from heterozygous parents to affected offspring for the TAP1 gene, as well as for the closely linked LMP2 and LMP7 genes encoding subunits of the immunoproteasome. No association with vitiligo was found for the MECL1 gene, which encodes a third immunoproteasome subunit and is unlinked to the MHC class II region. These results suggest a possible role for the MHC class I antigen processing and/or presentation pathway in the antimelanocyte autoimmune response involved in vitiligo pathogenesis.

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Section: Discussionmentioning

confidence: 56%

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

She

McCormack

2003

Genes Immun

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“…However, it has been suggested that alleles carrying Asp/637 (charged polar residue) appeared to be more restrictive in transporting peptides than those carrying Gly/637 (nonpolar residue). 19 Thus, it has been claimed that this position and position 648 lie within the region believed to make direct contact with peptides 20,21 being the most likely candidates for disease associations. In fact, this has been shown for HIV infection.…”

Section: Introductionmentioning

confidence: 99%

Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico

et al. 2002

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“…The subsequent peptide transportation and HLA molecule expression is therefore altered. However, because the results of studies exploring the contribution of the TAP polymorphisms to peptide antigen selection and transportation are not consistent [15][16][17] , this hypothesis should be tested further to elucidate the infl uence of the TAP gene polymorphism on HLA molecule-mediated immunological reactions.…”

Section: Discussionmentioning

confidence: 99%

TAP 2 Gene <i>Msp</i>-I Polymorphism Might Be Associated with Calcium Oxalate Stone Disease

Huang

Chen²,

Wan

et al. 2005

Urol Int

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Introduction: Inflammation might be one of the causes of stone disease. The function of the transporter associated with antigen-processing protein (TAP) is related to immune response and inflammation. Our aim was to investigate the relationship between stone disease and 5 polymorphic sites of the TAP gene (TAP1-1, 1-2, 2-1, 2-2, 2–3). Materials and Methods: We compared the frequencies of 5 polymorphisms in the TAP gene between 208 patients with recurrent calcium oxalate stone and 210 healthy controls. The polymorphism was detected by polymerase chain reaction-based restriction analysis. Results: Significant differences in the frequency of the polymorphism at the TAP2-2 site were detected between normal individuals and calcium stone disease patients (p < 0.0001). The distribution of the genotype AA homozygote was higher in stone patients (33.3%) than in the control group (16.3%). The odds ratio for the A allele compared with the G allele was 2.097 (95% CI 1.571–2.802). Conclusions: We conclude that the TAP2-2 MspI polymorphism might be associated with calcium stone disease.

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Peptide transport in human lymphoblastoid and tumor cells: effect of transporter associated with antigen presentation (TAP) polymorphism

Cited by 42 publications

References 41 publications

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico

TAP 2 Gene <i>Msp</i>-I Polymorphism Might Be Associated with Calcium Oxalate Stone Disease

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