CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
| Autor: | Christiane M. Robbins, Cal Williams, Luis Garcia Alonso, Johannes Ihle, Brian Johnstone, Decio Brunoni, Izabela Makalowska, Mark C. Johnson, Ronald M. Laxer, Jose Marcelino, Vidya Raman, Wafaa M. Suwairi, Lawrence Zemel, S. Bahabri, Stuart Schwartz, Orlando M. Gutiérrez, Nickolas Papadopoulos, Matthew L. Warman, Chong Ae Kim, Raman Sood, John D. Carpten, J. Kenneth Herd, Jeffrey M. Trent, Andy Baxevanis, Amy V. Gerstein |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Genotype DNA Mutational Analysis Molecular Sequence Data Pathogenesis Gene product Proteoglycan 4 Somatomedin B Genetics medicine Animals Humans Pericarditis Amino Acid Sequence RNA Messenger Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Hyperplasia biology Base Sequence Sequence Homology Amino Acid Cartilage Synovial Membrane Syndrome medicine.disease medicine.anatomical_structure Phenotype Proteoglycan Immunology Mutation Cancer research biology.protein Cattle Female Proteoglycans Synovial membrane Joint Diseases |
| Zdroj: | Nature genetics. 23(3) |
| ISSN: | 1061-4036 |
| Popis: | Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have studied the autosomal recessive disorder camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP; MIM 208250) to identify biological pathways that lead to synoviocyte hyperplasia, the principal pathological feature of this syndrome. Using a positional-candidate approach, we identified mutations in a gene (CACP) encoding a secreted proteoglycan as the cause of CACP. The CACP protein, which has previously been identified as both 'megakaryocyte stimulating factor precursor' and 'superficial zone protein', contains domains that have homology to somatomedin B, heparin-binding proteins, mucins and haemopexins. In addition to expression in joint synovium and cartilage, CACP is expressed in non-skeletal tissues including liver and pericardium. The similarity of CACP sequence to that of other protein families and the expression of CACP in non-skeletal tissues suggest it may have diverse biological activities. |
| Databáze: | OpenAIRE |
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