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Gene Review

COL6A1  -  collagen, type VI, alpha 1

Homo sapiens

Synonyms: Collagen alpha-1(VI) chain
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Disease relevance of COL6A1

  • Consistent with this mechanism was our analysis of a patient with a much milder phenotype, in whom we identified a previously described Bethlem myopathy heterozygous in-frame deletion of 18 amino acids somewhat downstream in the triple-helical domain, a result of exon 14 skipping in the COL6A1 gene [1].
  • New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype [1].
  • For the alpha1(VI) chain, only the regions encoding the triple-helical and the promoter have been characterized hitherto.To facilitate our study of the role of this gene in the phenotype of Down syndrome, we have cloned and sequenced the amino- and carboxyl-terminal globular domains of COL6A1 [2].
  • Importantly, our strategy also stabilised very low-level (or illegitimate) nonsense-containing transcripts in lymphoblasts from patients with Bethlem myopathy (COL6A1), familial adenomatous polyposis (APC), and breast cancer (BRCA1) [3].
  • Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects [4].

High impact information on COL6A1


Biological context of COL6A1


Anatomical context of COL6A1


Associations of COL6A1 with chemical compounds

  • Mutations of the invariant glycine residues in the triple-helical domain-coding region of COL6A1 and COL6A2 have been reported previously in the chromosome 21-linked families [12].

Other interactions of COL6A1


Analytical, diagnostic and therapeutic context of COL6A1

  • PCR assays for 21q-specific markers were used to show that COL6A1, COL6A2, and LA161 were all outside of the subtelomeric region spanned by the YACs and thus at least 300 kb from the 21q terminus [17].


  1. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Pan, T.C., Zhang, R.Z., Sudano, D.G., Marie, S.K., Bönnemann, C.G., Chu, M.L. Am. J. Hum. Genet. (2003) [Pubmed]
  2. Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2. Trikka, D., Davis, T., Lapenta, V., Brahe, C., Kessling, A.M. Mamm. Genome (1997) [Pubmed]
  3. Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. Bateman, J.F., Freddi, S., Lamandé, S.R., Byers, P., Nasioulas, S., Douglas, J., Otway, R., Kohonen-Corish, M., Edkins, E., Forrest, S. Hum. Mutat. (1999) [Pubmed]
  4. Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects. Davies, G.E., Howard, C.M., Farrer, M.J., Coleman, M.M., Cullen, L.M., Williamson, R., Wyse, R.K., Kessling, A.M. Hum. Genet. (1994) [Pubmed]
  5. Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group. Antonarakis, S.E. N. Engl. J. Med. (1991) [Pubmed]
  6. Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. Tanaka, T., Ikari, K., Furushima, K., Okada, A., Tanaka, H., Furukawa, K., Yoshida, K., Ikeda, T., Ikegawa, S., Hunt, S.C., Takeda, J., Toh, S., Harata, S., Nakajima, T., Inoue, I. Am. J. Hum. Genet. (2003) [Pubmed]
  7. Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12-18 weeks and in a trisomy 16 mouse. von Kaisenberg, C.S., Krenn, V., Ludwig, M., Nicolaides, K.H., Brand-Saberi, B. Anat. Embryol. (1998) [Pubmed]
  8. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Mercuri, E., Yuva, Y., Brown, S.C., Brockington, M., Kinali, M., Jungbluth, H., Feng, L., Sewry, C.A., Muntoni, F. Neurology (2002) [Pubmed]
  9. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Lucarini, L., Giusti, B., Zhang, R.Z., Pan, T.C., Jimenez-Mallebrera, C., Mercuri, E., Muntoni, F., Pepe, G., Chu, M.L. Hum. Genet. (2005) [Pubmed]
  10. Collagen type VI gene expression in the skin of trisomy 21 fetuses. von Kaisenberg, C.S., Brand-Saberi, B., Christ, B., Vallian, S., Farzaneh, F., Nicolaides, K.H. Obstetrics and gynecology. (1998) [Pubmed]
  11. The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q. Francomano, C.A., Cutting, G.R., McCormick, M.K., Chu, M.L., Timpl, R., Hong, H.K., Antonarakis, S.E. Hum. Genet. (1991) [Pubmed]
  12. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Pan, T.C., Zhang, R.Z., Pericak-Vance, M.A., Tandan, R., Fries, T., Stajich, J.M., Viles, K., Vance, J.M., Chu, M.L., Speer, M.C. Hum. Mol. Genet. (1998) [Pubmed]
  13. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Baker, N.L., Mörgelin, M., Peat, R., Goemans, N., North, K.N., Bateman, J.F., Lamandé, S.R. Hum. Mol. Genet. (2005) [Pubmed]
  14. Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries. Yaspo, M.L., Gellen, L., Mott, R., Korn, B., Nizetic, D., Poustka, A.M., Lehrach, H. Hum. Mol. Genet. (1995) [Pubmed]
  15. Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication. Kosaki, R., Kosaki, K., Matsushima, K., Mitsui, N., Matsumoto, N., Ohashi, H. Congenital anomalies. (2005) [Pubmed]
  16. Gene expression analysis of cultured amniotic fluid cell with Down syndrome by DNA microarray. Chung, I.H., Lee, S.H., Lee, K.W., Park, S.H., Cha, K.Y., Kim, N.S., Yoo, H.S., Kim, Y.S., Lee, S. J. Korean Med. Sci. (2005) [Pubmed]
  17. Structure of the terminal 300 kb of DNA from human chromosome 21q. Reston, J.T., Hu, X.L., Macina, R.A., Spais, C., Riethman, H.C. Genomics (1995) [Pubmed]
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