Early-onset pauciarticular juvenile chronic arthritis is associated with a mutation in the Y-box of the HLA-DQA1 promoter
| Autor: | Akinori Kimura, E. D. Albert, H. Truckenbrodt, J. P. Haas, J. Suschke, Takehiko Sasazuki, A. Volgger |
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| Rok vydání: | 1995 |
| Předmět: |
musculoskeletal diseases
Molecular Sequence Data Immunology Human leukocyte antigen Biology Major histocompatibility complex Biochemistry HLA-DQ alpha-Chains HLA-DQ Antigens Genetics Consensus sequence Humans Immunology and Allergy Age of Onset Promoter Regions Genetic Gene Alleles Base Sequence Promoter General Medicine Molecular biology Arthritis Juvenile Hypervariable region Regulatory sequence Mutation biology.protein Sequence motif |
| Zdroj: | Tissue Antigens. 45:317-321 |
| ISSN: | 1399-0039 0001-2815 |
| DOI: | 10.1111/j.1399-0039.1995.tb02460.x |
| Popis: | Early-onset pauciarticular juvenile chronic arthritis (EOPA-JCA) has associations with different alleles of the MHC region (HLA-A2, DR5, 6, 8, DQA 1*0401, *0501, *0601 and DPB1*0201). All susceptible DQA1 alleles carry an exclusive sequence motif. MHC-class II gene expression is controlled by 5′ flanking upstream regulatory regions (URR). A hypervariable region in the promoter region of the HLA-DQA1 gene (-240 and-200 base pairs upstream) defines ten different QAP (DQA1-Promoter) alleles, which are associated with certain DQA1-alleles. The Y-Box in the DQA1 promoter (YC-Box-125 to-115 upstream from the ATG) differs from the consensus sequence (-123 A for G) of all other MHC class II Y-Boxes, resulting in a lower affinity to the NF-Y transcription factor and in a reduced expression of DQA1. A second substitution in the Y-Box of QAP 4.1 and 4.2 (-119 A for G) is found in the promoter alleles of the DQA 1-alleles (DQA 1*0401, *0501, *0601) and is strongly associated with susceptibility to EOPA-JCA. |
| Databáze: | OpenAIRE |
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