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Gene Review

COL5A1  -  collagen, type V, alpha 1

Homo sapiens

Synonyms: Collagen alpha-1(V) chain
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Disease relevance of COL5A1


High impact information on COL5A1

  • A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito [3].
  • The breakpoint occurs at 9q34 within COL5A1 intron 24 and interestingly, within a LINE-1 (L1) element at Xp21 [3].
  • This demonstrates that a mutation in a type V collagen gene, COL5A1, results in EDS type I, and shows the involvement of L1 sequences in a constitutional chromosomal translocation [3].
  • Two potential candidate genes, COL5A1 and ZNF79, are also located within 9q33-34 [6].
  • Mutations in the COL5A1 and COL5A2 genes, which encode type V collagen, have been identified in several individuals [7].

Biological context of COL5A1

  • Genetic heterogeneity has been confirmed as an explanation for such failure, since causative mutations have been identified in the COL5A1, COL5A2, and tenascin X genes and since they have been inferred in the COL1A2 gene [1].
  • Thus, although as many as one-half of the mutations that give rise to EDS types I and II are likely to lie in the COL5A1 gene, a significant portion of them result in very low levels of mRNA from the mutant allele, as a consequence of nonsense-mediated mRNA decay [1].
  • The main triple-helical domain being encoded by 49-50 exons, including the junction exons, in the COL5A1, COL11A1 and COL11A2 genes, but by 43-44 exons in the genes for the major fibrillar collagens [8].
  • In 37 patients, the COL5A1/A2 genes were then analyzed by SSCP and conformation sensitive gel electrophoresis (CSGE) [9].
  • Using an intragenic COL5A1 polymorphism, we have demonstrated linkage, at zero recombination, to the same allele in two large British EDS type II families (LOD scores 4.1 and 4.3) [10].

Anatomical context of COL5A1


Associations of COL5A1 with chemical compounds

  • Mutation analysis by means of RNase cleavage and direct sequencing of reverse transcription-polymerase chain reaction products showed in both the presence of a heterozygous G1489E [correction] mutation in the COL5A1 gene, which represents the first report of a glycine substitution in the main triple-helical region of alpha1(V) collagen [14].
  • EDS cells with COL5A1 haplo-insufficiency deposited less than one-half of hydroxyproline as collagen compared to control fibroblasts, though total collagen synthesis rates are near-normal because type V collagen represents a small fraction of collagen synthesized [15].

Other interactions of COL5A1


Analytical, diagnostic and therapeutic context of COL5A1


  1. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Schwarze, U., Atkinson, M., Hoffman, G.G., Greenspan, D.S., Byers, P.H. Am. J. Hum. Genet. (2000) [Pubmed]
  2. Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Greenspan, D.S., Byers, M.G., Eddy, R.L., Cheng, W., Jani-Sait, S., Shows, T.B. Genomics (1992) [Pubmed]
  3. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Toriello, H.V., Glover, T.W., Takahara, K., Byers, P.H., Miller, D.E., Higgins, J.V., Greenspan, D.S. Nat. Genet. (1996) [Pubmed]
  4. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Greenspan, D.S., Northrup, H., Au, K.S., McAllister, K.A., Francomano, C.A., Wenstrup, R.J., Marchuk, D.A., Kwiatkowski, D.J. Genomics (1995) [Pubmed]
  5. The COL5A1 gene and Achilles tendon pathology. Mokone, G.G., Schwellnus, M.P., Noakes, T.D., Collins, M. Scandinavian journal of medicine & science in sports. (2006) [Pubmed]
  6. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. McDonald, M.T., Papenberg, K.A., Ghosh, S., Glatfelter, A.A., Biesecker, B.B., Helmbold, E.A., Markel, D.S., Zolotor, A., McKinnon, W.C., Vanderstoep, J.L. Nat. Genet. (1994) [Pubmed]
  7. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Takahara, K., Schwarze, U., Imamura, Y., Hoffman, G.G., Toriello, H., Smith, L.T., Byers, P.H., Greenspan, D.S. Am. J. Hum. Genet. (2002) [Pubmed]
  8. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Välkkilä, M., Melkoniemi, M., Kvist, L., Kuivaniemi, H., Tromp, G., Ala-Kokko, L. Matrix Biol. (2001) [Pubmed]
  9. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A. Hum. Mutat. (2005) [Pubmed]
  10. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Burrows, N.P., Nicholls, A.C., Richards, A.J., Luccarini, C., Harrison, J.B., Yates, J.R., Pope, F.M. Am. J. Hum. Genet. (1998) [Pubmed]
  11. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Segev, F., Héon, E., Cole, W.G., Wenstrup, R.J., Young, F., Slomovic, A.R., Rootman, D.S., Whitaker-Menezes, D., Chervoneva, I., Birk, D.E. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  12. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Wenstrup, R.J., Florer, J.B., Willing, M.C., Giunta, C., Steinmann, B., Young, F., Susic, M., Cole, W.G. Am. J. Hum. Genet. (2000) [Pubmed]
  13. Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. Stoler, J.M., Bromley, B., Castro, M.A., Cole, W.G., Florer, J., Wenstrup, R.J. Am. J. Med. Genet. (2001) [Pubmed]
  14. Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? Giunta, C., Steinmann, B. Am. J. Med. Genet. (2000) [Pubmed]
  15. Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. Wenstrup, R.J., Florer, J.B., Cole, W.G., Willing, M.C., Birk, D.E. J. Cell. Biochem. (2004) [Pubmed]
  16. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. Giunta, C., Nuytinck, L., Raghunath, M., Hausser, I., De Paepe, A., Steinmann, B. Am. J. Med. Genet. (2002) [Pubmed]
  17. Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections. Grond-Ginsbach, C., Weber, R., Haas, J., Orberk, E., Kunz, S., Busse, O., Hausser, I., Brandt, T., Wildemann, B. Stroke (1999) [Pubmed]
  18. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. Nicholls, A.C., Oliver, J.E., McCarron, S., Harrison, J.B., Greenspan, D.S., Pope, F.M. J. Med. Genet. (1996) [Pubmed]
  19. Mapping of the human COL5A1 gene to chromosome 9q34.3. Caridi, G., Pezzolo, A., Bertelli, R., Gimelli, G., Di Donato, A., Candiano, G., Ghiggeri, G.M. Hum. Genet. (1992) [Pubmed]
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