Colágeno Tipo II Alfa 1

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(Redirecionado de Col2A1)
Colágeno Tipo II Alfa 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
Indicadores
Símbolo COL2A1
Símbolos alt. SEDC
HUGO 2200
Entrez 1280
OMIM 120140
RefSeq NM_001844
UniProt P02458
Outros dados
Locus Cr. 12 q12-q13.2

Colágeno Tipo II Alfa 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), também conhecido como COL2A1, é um gene humano que providencia instruções para a produção da cadeia pro-alfa1(II) de colágeno tipo II.

Colágeno Tipo II, o qual adiciona estrutura e força aos tecidos conjuntivos, é encontrado primariamente na cartilagem. Três cadeias pro-alfa1(II) se entrelaçam para formar uma molécula procolágeno em forma de corda. Essas moléculas procolágeno devem ser processadas por enzimas na célula. Uma vez processadas, elas deixam a célula e se arranjam em longos e finos fibrilos que ligam-se uns aos outros nos espaços ao redor das células. Isso resulta na formação de fibras de colágeno tipo II fortes e maduras.

O gene COL2A1 está loaclizado no longo braço (q) do cromossoma 12 entre as posições 13.11 e 13.2, do Par de bases 46,653,017 ao par de bases 46,684,527.

Referências[editar | editar código-fonte]

  • Chan D, Cole WG, Chow CW, Mundlos S, Bateman JF (1995). «A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage». J Biol Chem. 270 (4): 1747–53. PMID 7829510. doi:10.1074/jbc.270.4.1747 
  • Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E (1985). «Identification and characterization of the human type II collagen gene (COL2A1)». Proc Natl Acad Sci U S A. 82 (9): 2555–9. PMID 3857598. doi:10.1073/pnas.82.9.2555 
  • Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S (2003). «Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene». Surv Ophthalmol. 48 (2): 191–203. PMID 12686304. doi:10.1016/S0039-6257(02)00460-5 
  • Fernandes RJ, Wilkin DJ, Weis MA, Wilcox WR, Cohn DH, Rimoin DL, Eyre DR (1998). «Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia». Arch Biochem Biophys. 355 (2): 282–90. PMID 9675039. doi:10.1006/abbi.1998.0745 
  • Ikeda T, Mabuchi A, Fukuda A, Kawakami A, Ryo Y, Yamamoto S, Miyoshi K, Haga N, Hiraoka H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S (2002). «Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population». J Bone Miner Res. 17 (7): 1290–6. PMID 12096843. doi:10.1359/jbmr.2002.17.7.1290 
  • Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ (2000). «Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis». Am J Med Genet. 92 (2): 95–100. PMID 10797431. doi:10.1002/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9 
  • Meulenbelt I, Bijkerk C, De Wildt SC, Miedema HS, Breedveld FC, Pols HA, Hofman A, Van Duijn CM, Slagboom PE (1999). «Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis». Ann Hum Genet. 63 ( Pt 5): 393–400. PMID 10735581. doi:10.1046/j.1469-1809.1999.6350393.x 
  • Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH (2000). «Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder». J Med Genet. 37 (4): 263–71. PMID 10745044. doi:10.1136/jmg.37.4.263 
  • Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP (2000). «Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix». Am J Hum Genet. 67 (5): 1083–94. PMID 11007540 
  • Snead MP, Yates JR (1999). «Clinical and Molecular genetics of Stickler syndrome». J Med Genet. 36 (5): 353–9. PMID 10353778 
  • Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR (1995). «Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type». Nat Genet. 11 (1): 87–9. PMID 7550321. doi:10.1038/ng0995-87 
  • Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM (2003). «A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia». QJM. 96 (9): 663–71. PMID 12925722. doi:10.1093/qjmed/hcg112 
  • Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR (1998). «Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation». J Biol Chem. 273 (8): 4761–8. PMID 9468540. doi:10.1074/jbc.273.8.4761 
  • Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH (1999). «Small deletions in the type II collagen triple helix produce kniest dysplasia». Am J Med Genet. 85 (2): 105–12. PMID 10406661. doi:10.1002/(SICI)1096-8628(19990716)85:2<105::AID-AJMG2>3.0.CO;2-Z 
  • Zabel B, Hilbert K, Stoss H, Superti-Furga A, Spranger J, Winterpacht A (1996). «A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia». Am J Med Genet. 63 (1): 123–8. PMID 8723097. doi:10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P 
  • Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A (2005). «Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies». Am J Med Genet A. 133 (1): 61–7. PMID 15643621. doi:10.1002/ajmg.a.30531 
  • Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafe L, Spranger J, Superti-Furga A (2004). «Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1». Am J Med Genet A. 129 (2): 144–8. PMID 15316962. doi:10.1002/ajmg.a.30222 

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