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Gene Review

COL10A1  -  collagen, type X, alpha 1

Homo sapiens

Synonyms: Collagen alpha-1(X) chain
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Disease relevance of COL10A1


High impact information on COL10A1

  • The defects indicate that collagen X is required for normal skeletal morphogenesis and suggest that mutations in COL10A1 are responsible for certain human chondrodysplasias, such as spondylometaphyseal dysplasias and metaphyseal chondrodysplasias [4].
  • Mutations in the human collagen alpha1 (X) gene (COL10A1) in Schmid metaphyseal chondrodysplasia (SMCD) suggest a supportive role [5].
  • Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family [6].
  • We used the PCR and the SSCP techniques to analyze the coding and upstream promoter regions of the COL10A1 gene in a number of individuals with forms of chondrodysplasia [7].
  • SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia [3].

Biological context of COL10A1

  • To study their impact on collagen X biosynthesis using in vitro cell-free translation in the presence of microsomes, and cell transfection assays, these two mutations were created in COL10A1 by site-directed mutagenesis [8].
  • We propose that the nature and distribution of mutations within the NC1 domain of COL10A1 causing MCDS argues against the hypothesis that the phenotype arises simply through haploinsufficiency but that an, as yet, unexplained mutation mechanism underlies this phenotype [9].
  • Point mutations and deletions in the region of the COL10A1 gene encoding the alpha 1 (X) carboxyl-terminal (NC1) domain have previously been identified in subjects with metaphyseal chondrodysplasia type Schmid (MCDS) [9].
  • By a combination of somatic cell hybrid screening and hybridization in situ the human collagen X gene (COL10A1) has been assigned to the distal end of the long arm of chromosome 6 at the locus 6q21-6q22.3 [10].
  • We have used the polymerase chain reaction and single strand conformation polymorphism (SSCP) methods to analyse the COL10A1 gene, which encodes collagen type X, in DNA samples from patients with metaphyseal dysplasia type Schmid (SMCD) and other related forms of metaphyseal dysplasia [11].

Anatomical context of COL10A1


Associations of COL10A1 with chemical compounds

  • Reporter cat gene (encoding chloramphenicol acetyltransferase, CAT) constructs containing 5'-regulatory sequences of human COL10a1 (hCOL10a1) were transfected into primary cultures of foetal bovine growth plate chondrocytes producing COL10A1 and non-producing epiphyseal cartilage chondrocytes [17].
  • In addition, the two boys, but not the mother, were found to carry a trinucleotide (CCC) deletion at position 2048 of the 3' untranslated region, a polymorphism of the COL10A1 gene [16].

Other interactions of COL10A1

  • Mutations in the COL2A1 and COL10A1 genes, which encode the cartilage collagens type II and type X, have been identified in a variety of inherited chondrodysplasias [18].
  • Schmid metaphyseal chondrodysplasia (SMCD) is a dominantly inherited cartilage disorder caused by mutations in the gene for the hypertrophic cartilage extracellular matrix structural protein, collagen X (COL10A1) [19].
  • These results indicate the presence of a PTH/PTHrP responsive element in the human COL10A1 enhancer, which may be represented by multiple putative AP-1 sites located in this region [20].
  • CONCLUSION: Cartilage-hair hypoplasia diagnosis should be considered in patients with metaphyseal chondrodysplasia even in the absence of any extra-skeletal manifestations if no mutation in COL10A1 can be found and the family history is compatible with autosomal recessive inheritance [21].

Analytical, diagnostic and therapeutic context of COL10A1


  1. The effects of histone deacetylase inhibitors on the induction of differentiation in chondrosarcoma cells. Sakimura, R., Tanaka, K., Yamamoto, S., Matsunobu, T., Li, X., Hanada, M., Okada, T., Nakamura, T., Li, Y., Iwamoto, Y. Clin. Cancer Res. (2007) [Pubmed]
  2. Chondrogenesis of human mesenchymal stem cells encapsulated in alginate beads. Ma, H.L., Hung, S.C., Lin, S.Y., Chen, Y.L., Lo, W.H. Journal of biomedical materials research. Part A. (2003) [Pubmed]
  3. SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia. Sweetman, W.A., Rash, B., Sykes, B., Beighton, P., Hecht, J.T., Zabel, B., Thomas, J.T., Boot-Handford, R., Grant, M.E., Wallis, G.A. Am. J. Hum. Genet. (1992) [Pubmed]
  4. Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Jacenko, O., LuValle, P.A., Olsen, B.R. Nature (1993) [Pubmed]
  5. Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function. Kwan, K.M., Pang, M.K., Zhou, S., Cowan, S.K., Kong, R.Y., Pfordte, T., Olsen, B.R., Sillence, D.O., Tam, P.P., Cheah, K.S. J. Cell Biol. (1997) [Pubmed]
  6. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. Ikegawa, S., Nishimura, G., Nagai, T., Hasegawa, T., Ohashi, H., Nakamura, Y. Am. J. Hum. Genet. (1998) [Pubmed]
  7. Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. Wallis, G.A., Rash, B., Sweetman, W.A., Thomas, J.T., Super, M., Evans, G., Grant, M.E., Boot-Handford, R.P. Am. J. Hum. Genet. (1994) [Pubmed]
  8. Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease. Chan, D., Ho, M.S., Cheah, K.S. J. Biol. Chem. (2001) [Pubmed]
  9. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. Wallis, G.A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M.E., Boot-Handford, R.P. J. Med. Genet. (1996) [Pubmed]
  10. The human collagen X gene. Complete primary translated sequence and chromosomal localization. Thomas, J.T., Cresswell, C.J., Rash, B., Nicolai, H., Jones, T., Solomon, E., Grant, M.E., Boot-Handford, R.P. Biochem. J. (1991) [Pubmed]
  11. Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. Bonaventure, J., Chaminade, F., Maroteaux, P. Hum. Genet. (1995) [Pubmed]
  12. Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response. Wilson, R., Freddi, S., Chan, D., Cheah, K.S., Bateman, J.F. J. Biol. Chem. (2005) [Pubmed]
  13. Spatial and temporal gene expression in chondrogenesis during fracture healing and the effects of basic fibroblast growth factor. Nakajima, F., Ogasawara, A., Goto, K., Moriya, H., Ninomiya, Y., Einhorn, T.A., Yamazaki, M. J. Orthop. Res. (2001) [Pubmed]
  14. Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins. Milunsky, J., Maher, T., Lebo, R., Milunsky, A. Fetal. Diagn. Ther. (1998) [Pubmed]
  15. Expression of the chondromodulin-I gene in chondrosarcomas. Aoyama, T., Okamoto, T., Nagayama, S., Nishijo, K., Ishibe, T., Yasura, K., Tsuboyama, T., Nakayama, T., Nakashima, Y., Nakamura, T., Toguchida, J. Cancer Lett. (2004) [Pubmed]
  16. Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia. Stratakis, C.A., Orban, Z., Burns, A.L., Vottero, A., Mitsiades, C.S., Marx, S.J., Abbassi, V., Chrousos, G.P. Biochem. Mol. Med. (1996) [Pubmed]
  17. Sequence comparison of three mammalian type-X collagen promoters and preliminary functional analysis of the human promoter. Thomas, J.T., Sweetman, W.A., Cresswell, C.J., Wallis, G.A., Grant, M.E., Boot-Handford, R.P. Gene (1995) [Pubmed]
  18. Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias. Loughlin, J., Irven, C., Sykes, B. Hum. Genet. (1994) [Pubmed]
  19. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Bateman, J.F., Wilson, R., Freddi, S., Lamandé, S.R., Savarirayan, R. Hum. Mutat. (2005) [Pubmed]
  20. Role of c-fos in the regulation of type X collagen gene expression by PTH and PTHrP: localization of a PTH/PTHrP-responsive region in the human COL10A1 enhancer. Riemer, S., Gebhard, S., Beier, F., Pöschl, E., von der Mark, K. J. Cell. Biochem. (2002) [Pubmed]
  21. Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia. Ridanpää, M., Ward, L.M., Rockas, S., Särkioja, M., Mäkelä, H., Susic, M., Glorieux, F.H., Cole, W.G., Mäkitie, O. J. Med. Genet. (2003) [Pubmed]
  22. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly. Bateman, J.F., Freddi, S., McNeil, R., Thompson, E., Hermanns, P., Savarirayan, R., Lamandé, S.R. Hum. Mutat. (2004) [Pubmed]
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