Collagen, type XII, alpha 1 explained

Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.^{[1] [2]}

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.

Alternatively spliced transcript variants encoding different isoforms have been identified.

Clinical significance

Mutations in COL12A1 are known to cause the following conditions:

• Bethlem myopathy 2 (also known as Ehlers-Danlos syndrome myopathic type);^[3]
• Ullrich congenital muscular dystrophy 2.

Further reading

• Oh SP, Taylor RW, Gerecke DR, Rochelle JM, Seldin MF, Olsen BR . The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6 . Genomics . 14 . 2 . 225–231 . October 1992 . 1427837 . 10.1016/S0888-7543(05)80210-1 .
• Sugrue SP, Gordon MK, Seyer J, Dublet B, van der Rest M, Olsen BR . Immunoidentification of type XII collagen in embryonic tissues . The Journal of Cell Biology . 109 . 2 . 939–945 . August 1989 . 2668306 . 2115737 . 10.1083/jcb.109.2.939 .
• Gordon MK, Gerecke DR, Olsen BR . Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning . Proceedings of the National Academy of Sciences of the United States of America . 84 . 17 . 6040–6044 . September 1987 . 3476925 . 299003 . 10.1073/pnas.84.17.6040 . free . 1987PNAS...84.6040G .
• Wälchli C, Koch M, Chiquet M, Odermatt BF, Trueb B . Tissue-specific expression of the fibril-associated collagens XII and XIV . Journal of Cell Science . 107 (Pt 2) . 2 . 669–681 . February 1994 . 8207089 . 10.1242/jcs.107.2.669 .
• Berthod F, Germain L, Guignard R, Lethias C, Garrone R, Damour O, van der Rest M, Auger FA . 6 . Differential expression of collagens XII and XIV in human skin and in reconstructed skin . The Journal of Investigative Dermatology . 108 . 5 . 737–742 . May 1997 . 9129225 . 10.1111/1523-1747.ep12292122 . free .
• Wessel H, Anderson S, Fite D, Halvas E, Hempel J, SundarRaj N . Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices . Investigative Ophthalmology & Visual Science . 38 . 11 . 2408–2422 . October 1997 . 9344363 .
• Chiquet M, Mumenthaler U, Wittwer M, Jin W, Koch M . The chick and human collagen alpha1(XII) gene promoter--activity of highly conserved regions around the first exon and in the first intron . European Journal of Biochemistry . 257 . 2 . 362–371 . October 1998 . 9826181 . 10.1046/j.1432-1327.1998.2570362.x . free .
• Trächslin J, Koch M, Chiquet M . Rapid and reversible regulation of collagen XII expression by changes in tensile stress . Experimental Cell Research . 247 . 2 . 320–328 . March 1999 . 10066359 . 10.1006/excr.1998.4363 .
• Gregory KE, Keene DR, Tufa SF, Lunstrum GP, Morris NP . Developmental distribution of collagen type XII in cartilage: association with articular cartilage and the growth plate . Journal of Bone and Mineral Research . 16 . 11 . 2005–2016 . November 2001 . 11697796 . 10.1359/jbmr.2001.16.11.2005 . 26927835 . free .
• Saika S, Miyamoto T, Tanaka T, Ishida I, Ohnishi Y, Ooshima A . Collagens XII and XIV (FACITs) in capsular opacification and in cultured lens epithelial cells . Current Eye Research . 23 . 6 . 463–468 . December 2001 . 12045897 . 10.1076/ceyr.23.6.463.6971 . 41275312 .
• Jin X, Iwasa S, Okada K, Ooi A, Mitsui K, Mitsumata M . Shear stress-induced collagen XII expression is associated with atherogenesis . Biochemical and Biophysical Research Communications . 308 . 1 . 152–158 . August 2003 . 12890494 . 10.1016/S0006-291X(03)01344-5 .
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S . 6 . Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions . Genome Research . 14 . 9 . 1711–1718 . September 2004 . 15342556 . 515316 . 10.1101/gr.2435604 .
• Thierry L, Geiser AS, Hansen A, Tesche F, Herken R, Miosge N . Collagen types XII and XIV are present in basement membrane zones during human embryonic development . Journal of Molecular Histology . 35 . 8–9 . 803–810 . November 2004 . 15609093 . 10.1007/s10735-004-1132-y . 30409158 .
• Storlazzi CT, Wozniak A, Panagopoulos I, Sciot R, Mandahl N, Mertens F, Debiec-Rychter M . Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22) . International Journal of Cancer . 118 . 8 . 1972–1976 . April 2006 . 16284948 . 10.1002/ijc.21586 . 28327388 . free .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . 6 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . January 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .

Notes and References

1. Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, Champliaud MF, Olsen BR, Burgeson RE . 6 . Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13 . Genomics . 41 . 2 . 236–242 . April 1997 . 9143499 . 10.1006/geno.1997.4638 .
2. Web site: Entrez Gene: COL12A1 collagen, type XII, alpha 1.
3. Web site: Collagen, Type XII, Alpha-1; COL12A1 Gene-Phenotype Relationships . Online Mendelian Inheritance in Man.