Cartilage oligomeric matrix protein: Difference between revisions
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== Function == | == Function == | ||
The [[protein]] encoded by this gene is a noncollagenous [[extracellular matrix]] (ECM) [[protein]].<ref name=pmid7325960>{{cite journal | vauthors = Paulsson M, Heinegård D | title = Purification and structural characterization of a cartilage matrix protein | journal = The Biochemical Journal | volume = 197 | issue = 2 | pages = 367–75 | date = Aug 1981 | pmid = 7325960 | pmc = 1163135 | doi=10.1042/bj1970367}}</ref> It consists of five identical [[glycoprotein]] subunits, each with [[EGF-like domain|EGF-like]] and calcium-binding ([[thrombospondin]]-like) domains. Oligomerization results from formation of a five-stranded [[coiled coil]] and [[disulfide bond]]s. Binding to other ECM proteins such as collagen appears to depend on | The [[protein]] encoded by this gene is a noncollagenous [[extracellular matrix]] (ECM) [[protein]].<ref name=pmid7325960>{{cite journal | vauthors = Paulsson M, Heinegård D | title = Purification and structural characterization of a cartilage matrix protein | journal = The Biochemical Journal | volume = 197 | issue = 2 | pages = 367–75 | date = Aug 1981 | pmid = 7325960 | pmc = 1163135 | doi=10.1042/bj1970367}}</ref> It consists of five identical [[glycoprotein]] subunits, each with [[EGF-like domain|EGF-like]] and calcium-binding ([[thrombospondin]]-like) domains. Oligomerization results from formation of a five-stranded [[coiled coil]] and [[disulfide bond]]s. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias [[pseudoachondroplasia]] (PSACH) and [[multiple epiphyseal dysplasia]] (MED).<ref name="entrez" /> | ||
COMP is a marker of cartilage turnover.<ref>{{cite journal | vauthors = Petersen SG, Saxne T, Heinegard D, Hansen M, Holm L, Koskinen S, Stordal C, Christensen H, Aagaard P, Kjaer M | title = Glucosamine but not ibuprofen alters cartilage turnover in osteoarthritis patients in response to physical training | journal = Osteoarthritis and Cartilage / OARS, Osteoarthritis Research Society | volume = 18 | issue = 1 | pages = 34–40 | date = Jan 2010 | pmid = 19679221 | doi = 10.1016/j.joca.2009.07.004 }}</ref> It is present in high quantities in [[Fibrosis|fibrotic scar]]s and [[systemic sclerosis]], and it appears to have a role in vascular wall remodeling.<ref>{{cite journal | vauthors = Halper J, Kjaer M | title = Basic components of connective tissues and extracellular matrix: elastin, fibrillin, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins | journal = Advances in Experimental Medicine and Biology | volume = 802 | pages = 31–47 | date = 2014 | pmid = 24443019 | doi = 10.1007/978-94-007-7893-1_3 }}</ref> | COMP is a marker of cartilage turnover.<ref>{{cite journal | vauthors = Petersen SG, Saxne T, Heinegard D, Hansen M, Holm L, Koskinen S, Stordal C, Christensen H, Aagaard P, Kjaer M | title = Glucosamine but not ibuprofen alters cartilage turnover in osteoarthritis patients in response to physical training | journal = Osteoarthritis and Cartilage / OARS, Osteoarthritis Research Society | volume = 18 | issue = 1 | pages = 34–40 | date = Jan 2010 | pmid = 19679221 | doi = 10.1016/j.joca.2009.07.004 }}</ref> It is present in high quantities in [[Fibrosis|fibrotic scar]]s and [[systemic sclerosis]], and it appears to have a role in vascular wall remodeling.<ref>{{cite journal | vauthors = Halper J, Kjaer M | title = Basic components of connective tissues and extracellular matrix: elastin, fibrillin, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins | journal = Advances in Experimental Medicine and Biology | volume = 802 | pages = 31–47 | date = 2014 | pmid = 24443019 | doi = 10.1007/978-94-007-7893-1_3 }}</ref> | ||
Latest revision as of 17:45, 28 December 2017
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Cartilage oligomeric matrix protein (COMP), also known as thrombospondin-5, is an extracellular matrix (ECM) protein primarily present in cartilage. In humans it is encoded by the COMP gene.[1][2][3]
Function
The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein.[4] It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfide bonds. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED).[3]
COMP is a marker of cartilage turnover.[5] It is present in high quantities in fibrotic scars and systemic sclerosis, and it appears to have a role in vascular wall remodeling.[6]
References
- ↑ Newton G, Weremowicz S, Morton CC, Copeland NG, Gilbert DJ, Jenkins NA, Lawler J (Dec 1994). "Characterization of human and mouse cartilage oligomeric matrix protein". Genomics. 24 (3): 435–9. doi:10.1006/geno.1994.1649. PMID 7713493.
- ↑ Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH (Dec 1993). "Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19". Genomics. 18 (3): 656–60. doi:10.1016/S0888-7543(05)80369-6. PMID 8307576.
- ↑ 3.0 3.1 "Entrez Gene: COMP cartilage oligomeric matrix protein".
- ↑ Paulsson M, Heinegård D (Aug 1981). "Purification and structural characterization of a cartilage matrix protein". The Biochemical Journal. 197 (2): 367–75. doi:10.1042/bj1970367. PMC 1163135. PMID 7325960.
- ↑ Petersen SG, Saxne T, Heinegard D, Hansen M, Holm L, Koskinen S, Stordal C, Christensen H, Aagaard P, Kjaer M (Jan 2010). "Glucosamine but not ibuprofen alters cartilage turnover in osteoarthritis patients in response to physical training". Osteoarthritis and Cartilage / OARS, Osteoarthritis Research Society. 18 (1): 34–40. doi:10.1016/j.joca.2009.07.004. PMID 19679221.
- ↑ Halper J, Kjaer M (2014). "Basic components of connective tissues and extracellular matrix: elastin, fibrillin, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins". Advances in Experimental Medicine and Biology. 802: 31–47. doi:10.1007/978-94-007-7893-1_3. PMID 24443019.
Further reading
- Unger S, Hecht JT (2002). "Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments". American Journal of Medical Genetics. 106 (4): 244–50. doi:10.1002/ajmg.10234. PMID 11891674.
- Liu C (2006). "Transcriptional mechanism of COMP gene expression and chondrogenesis". Journal of Musculoskeletal & Neuronal Interactions. 5 (4): 340–1. PMID 16340129.
- Morozzi G, Fabbroni M, Bellisai F, Pucci G, Galeazzi M (Jun 2007). "Cartilage oligomeric matrix protein level in rheumatic diseases: potential use as a marker for measuring articular cartilage damage and/or the therapeutic efficacy of treatments". Annals of the New York Academy of Sciences. 1108 (1): 398–407. doi:10.1196/annals.1422.041. PMID 17894003.
- Månsson B, Carey D, Alini M, Ionescu M, Rosenberg LC, Poole AR, Heinegård D, Saxne T (Mar 1995). "Cartilage and bone metabolism in rheumatoid arthritis. Differences between rapid and slow progression of disease identified by serum markers of cartilage metabolism". The Journal of Clinical Investigation. 95 (3): 1071–7. doi:10.1172/JCI117753. PMC 441442. PMID 7533784.
- Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M (Jul 1995). "Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia". Nature Genetics. 10 (3): 325–9. doi:10.1038/ng0795-325. PMID 7670471.
- Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES (Jul 1995). "Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene". Nature Genetics. 10 (3): 330–6. doi:10.1038/ng0795-330. PMID 7670472.
- Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Oehlmann R, Summerville GP, Yeh G, Weaver EJ, Jimenez SA, Knowlton RG (Jan 1994). "Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19". American Journal of Human Genetics. 54 (1): 3–10. PMC 1918067. PMID 8279467.
- Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH (Dec 1993). "Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19". Genomics. 18 (3): 656–60. doi:10.1016/S0888-7543(05)80369-6. PMID 8307576.
- Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS (Feb 1997). "Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family". American Journal of Medical Genetics. 68 (4): 396–400. doi:10.1002/(SICI)1096-8628(19970211)68:4<396::AID-AJMG4>3.0.CO;2-K. PMID 9021009.
- Susic S, McGrory J, Ahier J, Cole WG (Apr 1997). "Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein". Clinical Genetics. 51 (4): 219–24. doi:10.1111/j.1399-0004.1997.tb02458.x. PMID 9184241.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH (Feb 1998). "Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum". American Journal of Human Genetics. 62 (2): 311–9. doi:10.1086/301713. PMC 1376889. PMID 9463320.
- Rosenberg K, Olsson H, Mörgelin M, Heinegård D (Aug 1998). "Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen". The Journal of Biological Chemistry. 273 (32): 20397–403. doi:10.1074/jbc.273.32.20397. PMID 9685393.
- Hecht JT, Deere M, Putnam E, Cole W, Vertel B, Chen H, Lawler J (Aug 1998). "Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues". Matrix Biology. 17 (4): 269–78. doi:10.1016/S0945-053X(98)90080-4. PMID 9749943.
- Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH (Jan 1999). "Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene". Human Molecular Genetics. 8 (1): 123–8. doi:10.1093/hmg/8.1.123. PMID 9887340.
- Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y (Dec 1998). "Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia". Human Genetics. 103 (6): 633–8. doi:10.1007/s004390050883. PMID 9921895.
- Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT (Aug 1999). "Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia". American Journal of Medical Genetics. 85 (5): 486–90. doi:10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O. PMID 10405447.
- Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegård D, Paulsson M, Maurer P (Mar 2001). "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX". The Journal of Biological Chemistry. 276 (9): 6083–92. doi:10.1074/jbc.M009512200. PMID 11084047.
External links
- GeneReviews/NCBI/NIH/UW entry on Pseudoachondroplasia
- GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
- cartilage+matrix+protein at the US National Library of Medicine Medical Subject Headings (MeSH)
