Collagen, type IX, alpha 2 explained

Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.^{[1] [2] [3] [4]}

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia.^[4]

External links

• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant

Further reading

• Fahrig T, Landa C, Pesheva P . Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents . EMBO J. . 6 . 10 . 2875–83 . 1988 . 2446864 . 10.1002/j.1460-2075.1987.tb02590.x. 553721 . etal.
• McCormick D, van der Rest M, Goodship J . Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan . Proc. Natl. Acad. Sci. U.S.A. . 84 . 12 . 4044–8 . 1987 . 3473493 . 10.1073/pnas.84.12.4044 . 305018 . 1987PNAS...84.4044M . etal. free .
• Warman ML, McCarthy MT, Perälä M . The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4 . Genomics . 23 . 1 . 158–62 . 1995 . 7829066 . 10.1006/geno.1994.1472 . etal.
• Briggs MD, Choi H, Warman ML . Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene . Am. J. Hum. Genet. . 55 . 4 . 678–84 . 1994 . 7942845 . 1918298 . etal.
• Warman ML, Tiller GE, Polumbo PA . Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1) . Genomics . 17 . 3 . 694–8 . 1993 . 8244386 . 10.1006/geno.1993.1391 . etal.
• Pihlajamaa T, Vuoristo MM, Annunen S . Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule . Matrix Biol. . 17 . 3 . 237–41 . 1998 . 9707347 . 10.1016/S0945-053X(98)90063-4 . etal.
• Holden P, Canty EG, Mortier GR . Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia . Am. J. Hum. Genet. . 65 . 1 . 31–8 . 1999 . 10364514 . 10.1086/302440 . 1378072 . etal.
• Annunen S, Paassilta P, Lohiniva J . An allele of COL9A2 associated with intervertebral disc disease . Science . 285 . 5426 . 409–12 . 1999 . 10411504 . 10.1126/science.285.5426.409 . etal.
• Czarny-Ratajczak M, Lohiniva J, Rogala P . A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity . Am. J. Hum. Genet. . 69 . 5 . 969–80 . 2001 . 11565064 . 10.1086/324023 . 1274373 . etal.
• Fertala A, Sieron AL, Adachi E, Jimenez SA . Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX . Biochemistry . 40 . 48 . 14422–8 . 2002 . 11724554 . 10.1021/bi0109109 .
• Fiedler J, Stöve J, Heber F, Brenner RE . Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2) . Am. J. Med. Genet. . 112 . 2 . 144–53 . 2003 . 12244547 . 10.1002/ajmg.10554 .
• Matsui Y, Wu JJ, Weis MA . Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage . Matrix Biol. . 22 . 2 . 123–9 . 2004 . 12782139 . 10.1016/S0945-053X(02)00102-6 . etal.
• Kim MS, Hwang NS, Lee J . Musculoskeletal differentiation of cells derived from human embryonic germ cells . Stem Cells . 23 . 1 . 113–23 . 2005 . 15625128 . 10.1634/stemcells.2004-0110 . etal. free .
• Jim JJ, Noponen-Hietala N, Cheung KM . The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration . Spine . 30 . 24 . 2735–42 . 2006 . 16371896 . 10.1097/01.brs.0000190828.85331.ef . 1028747 . etal.
• Takahashi M, Matsui Y, Goto T . Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2) . Clin. Rheumatol. . 25 . 4 . 591–5 . 2006 . 16440132 . 10.1007/s10067-005-0034-z . 7753058 . etal.
• Gregory SG, Barlow KF, McLay KE . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . etal. free .
• Seki S, Kawaguchi Y, Mori M . Association study of COL9A2 with lumbar disc disease in the Japanese population . J. Hum. Genet. . 51 . 12 . 1063–7 . 2007 . 17024315 . 10.1007/s10038-006-0062-9 . etal. free .

Notes and References

1. Perala M, Hanninen M, Hastbacka J, Elima K, Vuorio E . Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1 . FEBS Lett . 319 . 1–2 . 177–80 . Apr 1993 . 8454052 . 10.1016/0014-5793(93)80062-Y . free .
2. Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC . A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) . Nat Genet . 12 . 1 . 103–5 . Feb 1996 . 8528240 . 10.1038/ng0196-103 . 2066/23763 . 1033195 . free .
3. Wu JJ, Woods PE, Eyre DR . Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding . J Biol Chem . 267 . 32 . 23007–14 . Dec 1992 . 10.1016/S0021-9258(18)50048-X . 1429648 . free .
4. Web site: Entrez Gene: COL9A2 collagen, type IX, alpha 2.