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Col1a2  -  collagen, type I, alpha 2

Mus musculus

Synonyms: AA960264, AI325291, Alpha-2 type I collagen, Col1a-2, Cola-2, ...
 
 
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Disease relevance of Col1a2

 

High impact information on Col1a2

  • The presence of smaller crystals with more variable alignment in corticalis of oim/oim mice may contribute to the brittleness of their bone, similar to that of human osteogenesis imperfecta [6].
  • While electron microscopic tomography has recently shown the existence of large mineral blocks (with all dimensions typically exceeding 50 nm) in mineralized tendons of oim/oim mice, SAXS revealed a family of thin, possibly needle-like, crystals in cortical bone [6].
  • These crystals were similar in shape to those observed previously in normal mice, but they were thinner and less well aligned in oim/oim mice relative to heterozygotes [6].
  • Long bones (femur and tibia) from young (5 wk old) oim/oim mice and from unaffected heterozygous counterparts were investigated by small-angle x-ray scattering (SAXS), which is sensitive to structures smaller than 50 nm [6].
  • Breeding studies show the mutation is inherited in most crosses as a single recessive gene on chromosome 6, near the murine Cola-2 gene [2].
 

Biological context of Col1a2

  • The human and mouse genes that code for the alpha2 chain of collagen I (COL1A2 and Col1a2, respectively) share a common chromatin structure and nearly identical proximal promoter and far upstream enhancer sequences [7].
  • In this study, we used transgenic mice harbouring the complete promotor sequence of the pro-Col1a2 gene up to -17 kb to examine the role of this enhancer in the expression and regulation of the collagen gene during development and in adult tissues pre and post injury [8].
  • These data suggest that Col1a1, Col1a2 and procollagen I are associated with type A spermatogonia and play a potential role in mediating the detachment and migration of germ cells during spermatogenesis [9].
  • To determine the effect of Col1a2 genotype on tissue mechanical properties, we compared Young's modulus and hardness of dentin in the 3 Col1a2 genotypes [10].
  • The biomechanical properties of femurs isolated from heterozygous oim mice are also intermediate to homozygotes and wild-type mice when tested in four-point bending [3].
 

Anatomical context of Col1a2

 

Associations of Col1a2 with chemical compounds

  • In particular, the weakest spot on the oim triple helix is located approximately 100 amino acid residues from the C-terminal end within the cyanogen bromide peptide CB6 [15].
  • The higher dose of alendronate reduced humerus and ulna length in the oim/wt and wt/wt genotypes for both sexes (P < 0.05) [16].
 

Other interactions of Col1a2

  • Data from a third cross show that Cola2 lies between D6Mit82 and D6Rp2 [17].
  • The oim mutation is unlikely to affect the efficacy of the lysyl oxidase, suggesting that the defect is in the molecule and fibre [18].
 

Analytical, diagnostic and therapeutic context of Col1a2

  • We found that at the same heating rate oim homotrimers completely denature at approximately 2.5deg.C higher temperature than wild-type heterotrimers, as determined by differential scanning calorimetry [15].
  • Immunohistochemistry with anti-alpha1(I) collagen antibodies confirmed accumulation of type I collagen in the oim/oim glomeruli [11].
  • To further define the consequences of oim mutation, we examined teeth by light and scanning electron microscopy (SEM) [19].
  • PCR genotyping of oim mutant mice [20].
  • MATERIALS AND METHODS: Subcutaneous injections of recombinant human growth hormone (rhGH) or saline were given 6 days per week to oim/+ mice between 3 and 12 weeks of age, in a protocol designed to simulate a trial on OI children [21].

References

  1. Activation of a fibroblast-specific enhancer of the proalpha2(I) collagen gene in tight-skin mice. Denton, C.P., Zheng, B., Shiwen, X., Zhang, Z., Bou-Gharios, G., Eberspaecher, H., Black, C.M., de Crombrugghe, B. Arthritis Rheum. (2001) [Pubmed]
  2. Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Chipman, S.D., Sweet, H.O., McBride, D.J., Davisson, M.T., Marks, S.C., Shuldiner, A.R., Wenstrup, R.J., Rowe, D.W., Shapiro, J.R. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  3. Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. Saban, J., Zussman, M.A., Havey, R., Patwardhan, A.G., Schneider, G.B., King, D. Bone (1996) [Pubmed]
  4. Alendronate treatment for infants with osteogenesis imperfecta: demonstration of efficacy in a mouse model. McCarthy, E.A., Raggio, C.L., Hossack, M.D., Miller, E.A., Jain, S., Boskey, A.L., Camacho, N.P. Pediatr. Res. (2002) [Pubmed]
  5. Transfer of proalpha2(I) cDNA into cells of a murine model of human Osteogenesis Imperfecta restores synthesis of type I collagen comprised of alpha1(I) and alpha2(I) heterotrimers in vitro and in vivo. Niyibizi, C., Smith, P., Mi, Z., Phillips, C.L., Robbins, P. J. Cell. Biochem. (2001) [Pubmed]
  6. Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. Fratzl, P., Paris, O., Klaushofer, K., Landis, W.J. J. Clin. Invest. (1996) [Pubmed]
  7. Identification of a repressor in the first intron of the human alpha2(I) collagen gene (COL1A2). Antoniv, T.T., Tanaka, S., Sudan, B., De Val, S., Liu, K., Wang, L., Wells, D.J., Bou-Gharios, G., Ramirez, F. J. Biol. Chem. (2005) [Pubmed]
  8. Col1a2 enhancer regulates collagen activity during development and in adult tissue repair. Ponticos, M., Abraham, D., Alexakis, C., Lu, Q.L., Black, C., Partridge, T., Bou-Gharios, G. Matrix Biol. (2004) [Pubmed]
  9. Expression of Col1a1, Col1a2 and procollagen I in germ cells of immature and adult mouse testis. He, Z., Feng, L., Zhang, X., Geng, Y., Parodi, D.A., Suarez-Quian, C., Dym, M. Reproduction (2005) [Pubmed]
  10. Increased Young's Modulus and Hardness of Col1a2oim Dentin. Franco, G.E., Huang, A., Camacho, N.P., Stone, D.S., Blank, R.D. J. Dent. Res. (2006) [Pubmed]
  11. Novel collagen glomerulopathy in a homotrimeric type I collagen mouse (oim). Phillips, C.L., Pfeiffer, B.J., Luger, A.M., Franklin, C.L. Kidney Int. (2002) [Pubmed]
  12. The role of type I collagen in aortic wall strength with a homotrimeric. Vouyouka, A.G., Pfeiffer, B.J., Liem, T.K., Taylor, T.A., Mudaliar, J., Phillips, C.L. J. Vasc. Surg. (2001) [Pubmed]
  13. Bone geometry and strength measurements in aging mice with the oim mutation. McBride, D.J., Shapiro, J.R., Dunn, M.G. Calcif. Tissue Int. (1998) [Pubmed]
  14. Novel assessment of bone using time-resolved transcutaneous Raman spectroscopy. Draper, E.R., Morris, M.D., Camacho, N.P., Matousek, P., Towrie, M., Parker, A.W., Goodship, A.E. J. Bone Miner. Res. (2005) [Pubmed]
  15. Changes in thermal stability and microunfolding pattern of collagen helix resulting from the loss of alpha2(I) chain in osteogenesis imperfecta murine. Kuznetsova, N.V., McBride, D.J., Leikin, S. J. Mol. Biol. (2003) [Pubmed]
  16. Alendronate affects long bone length and growth plate morphology in the oim mouse model for Osteogenesis Imperfecta. Evans, K.D., Lau, S.T., Oberbauer, A.M., Martin, R.B. Bone (2003) [Pubmed]
  17. A genomic clone containing a telomere array maps near the centromere of mouse chromosome 6. Yen, C.H., Matsuda, Y., Chapman, V.M., Elliott, R.W. Mamm. Genome (1995) [Pubmed]
  18. The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues. Miles, C.A., Sims, T.J., Camacho, N.P., Bailey, A.J. J. Mol. Biol. (2002) [Pubmed]
  19. Dental phenotype of the col1a2(oim) mutation: DI is present in both homozygotes and heterozygotes. Lopez Franco, G.E., Huang, A., Pleshko Camacho, N., Blank, R.D. Bone (2005) [Pubmed]
  20. PCR genotyping of oim mutant mice. Saban, J., King, D. BioTechniques (1996) [Pubmed]
  21. Growth hormone injections improve bone quality in a mouse model of osteogenesis imperfecta. King, D., Jarjoura, D., McEwen, H.A., Askew, M.J. J. Bone Miner. Res. (2005) [Pubmed]
 
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