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Gene Review

Col1a1  -  collagen, type I, alpha 1

Mus musculus

Synonyms: Alpha-1 type I collagen, Col1a-1, Cola-1, Cola1, Collagen alpha-1(I) chain, ...
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Disease relevance of Col1a1


Psychiatry related information on Col1a1


High impact information on Col1a1

  • The role of collagen I for midgestation development was studied in homozygous Mov 13 embryos, which cannot synthesize alpha 1(1) mRNA as a result of insertional mutagenesis and most of which die between day 12 and 14 of gestation [5].
  • Our results suggest that the virus insertion in Mov13 mice may prevent the developmentally regulated appearance of a transcription-associated hypersensitive site, thereby interfering with proper activation of the gene during embryonic development [6].
  • Germline integration of moloney murine leukemia virus at the Mov13 locus leads to recessive lethal mutation and early embryonic death [7].
  • In contrast, no homozygous offspring or embryos older than day 15 of gestation were obtained from parents heterozygous at the Mov13 locus [7].
  • These results suggest that integration of M-MuLV at the Mov13 locus leads to insertion mutagenesis, resulting in embryonic arrest between day 12 and day 13 of gestation [7].

Chemical compound and disease context of Col1a1


Biological context of Col1a1

  • The pattern of expression of genes known to regulate chondrocyte differentiation was not perturbed in Pbx1-deficient cartilage at early days of embryonic skeletogenesis, however precocious expression of Col1a1, a marker of bone formation, was found [9].
  • To evaluate the function of this procollagen domain we have used a targeted mutagenesis approach to generate mice that lack exon 2 in the Col1a1 gene [10].
  • The globular domain in the NH(2)-terminal propeptide (N-propeptide) of the proalpha1(I) chain is largely encoded by exon 2 of the Col1a1 gene and has been implicated in a number of processes that are involved in the biogenesis, maturation, and function of type I collagen [10].
  • Col1a1 transgenes should be useful in appreciating the heterogeneity of a primary or immortalized culture undergoing osteoblastic differentiation [11].
  • Other putative regulatory elements in the transcribed and 3'-flanking regions of the Col1a1 gene, including both of its polyadenylation sites, are also associated with SIDD peaks [12].

Anatomical context of Col1a1

  • We report the successful introduction of homogeneous DNA derived from a 150 kbp YAC spanning the murine Col1a1 locus into murine fibroblasts carrying a mutation at this locus [13].
  • In mutant embryos, ectopic expression of osteoblast marker genes, such as Runx2, Osterix, and Col1a1, was found in the locations where the nasal cartilages exist in WT embryos [14].
  • A 2.3-kilobase (kb) Col1a1 promoter driving GFP (pOB4Col2.3GLP) was stably transfected into the cell line and positive clones were selected [11].
  • Primary marrow stromal cell (MSC) and mouse calvarial osteoblast (mCOB) cultures were established from transgenic mice harboring different Col1a1 promoter fragments driving chloramphenicol acetyltransferase (CAT) [11].
  • However, collagen I immunoreactivity in sclera and associated structures was greater in Col1a1(r/r) mice than in Col1a1(+/+) mice [15].

Associations of Col1a1 with chemical compounds

  • To assess osteoblast activity, a rat Col1a1 promoter linked to the chloramphenicol acetyltransferase reporter transgene was bred into the oim model [16].
  • After induction of differentiation the Col1a1 gene remained transcriptionally active for extended periods of time even in the absence of RA [8].
  • EMSA analysis showed zinc-dependent differences in the binding of nuclear factors from untreated and prostaglandin-treated cells to the -84 bp/-29 bp region of the Col1a1 promoter [17].
  • CONCLUSIONS: These results show that the inhibition of Col1a1 expression by IL-1 in fibroblasts is mediated by prostaglandins at the transcriptional level and suggest that PGE-responsive factors may interact directly or indirectly with basal regulatory elements in the proximal promoter region of the Col1a1 gene [17].
  • The inhibitory effect of 1,25(OH)2D3 on transgene mRNA was maintained in the presence of the protein synthesis inhibitor cycloheximide, suggesting that the inhibitory effect on Col1a1 gene transcription does not require de novo protein synthesis [18].

Physical interactions of Col1a1

  • Our results indicate that YY1 binds to the Col1a1 proximal promoter and functions as a positive regulator of constitutive activity in fibroblasts [19].

Regulatory relationships of Col1a1

  • To confirm the function of Sox8 as a negative regulator of osteoblast differentiation we generated transgenic mice that express Sox8 under the control of an osteoblast-specific Col1a1 promoter fragment [20].
  • MATERIALS AND METHODS: We generated transgenic mice that express BMP4 or noggin in bone under the control of the 2.3-kb alpha1(I) collagen chain gene (Col1a1) promoter, and analyzed their bone phenotype [21].
  • Fibroblasts isolated from homozygous Mov-13 mice did not contract native type I collagen gels as efficiently as fibroblasts from heterozygous littermates; however, addition of exogenous SPARC enhanced the contraction of collagen by homozygous Mov-13 fibroblasts [22].
  • The storage compliance of Mov-13 and control skin were similar and were greater than Tsk (p<0.001) [23].

Other interactions of Col1a1

  • In contrast, a 2.3 Col1a1 fragment (ColCAT2.3) became active coincident with BSP expression [11].
  • Mice carrying a targeted mutation (r) in Col1a1, encoding a collagenase-resistant form of type I collagen, have altered skeletal remodeling [24].
  • Mov-13 mice activate infectious virus during embryogenesis, leading to a distinct pattern of virus expression in all tissues of the adult, but the viral genome in Mov-1 mice is activated only during the first two weeks after birth, leading to virus expression predominantly in lymphatic organs [25].
  • Nine new substrains, designated Mov-5 to Mov-13, were derived, each of which carries a single M-MuLV genome at a different chromosomal position in its germ line [25].
  • Similar to the previously derived Mov 13 mutation, proviral integration at the Mov 34 locus interferes with the expression of the adjacent gene [26].

Analytical, diagnostic and therapeutic context of Col1a1


  1. Col1a1 promoter-targeted expression of p20 CCAAT enhancer-binding protein beta (C/EBPbeta), a truncated C/EBPbeta isoform, causes osteopenia in transgenic mice. Harrison, J.R., Huang, Y.F., Wilson, K.A., Kelly, P.L., Adams, D.J., Gronowicz, G.A., Clark, S.H. J. Biol. Chem. (2005) [Pubmed]
  2. Bone-directed expression of Col1a1 promoter-driven self-inactivating retroviral vector in bone marrow cells and transgenic mice. Stover, M.L., Wang, C.K., McKinstry, M.B., Kalajzic, I., Gronowicz, G., Clark, S.H., Rowe, D.W., Lichtler, A.C. Mol. Ther. (2001) [Pubmed]
  3. Mice with a deletion in the first intron of the Col1a1 gene develop dissection and rupture of aorta in the absence of aneurysms: high-resolution magnetic resonance imaging, at 4.7 T, of the aorta and cerebral arteries. Marjamaa, J., Tulamo, R., Abo-Ramadan, U., Hakovirta, H., Frösen, J., Rahkonen, O., Niemelä, M., Bornstein, P., Penttinen, R., Kangasniemi, M. Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. (2006) [Pubmed]
  4. Effects of fresh kola-nut extract (Cola nitida) on the locomotor activities of male mice. Ajarem, J.S. Acta physiologica et pharmacologica Bulgarica. (1990) [Pubmed]
  5. Embryonic lethal mutation in mouse collagen I gene causes rupture of blood vessels and is associated with erythropoietic and mesenchymal cell death. Löhler, J., Timpl, R., Jaenisch, R. Cell (1984) [Pubmed]
  6. Retrovirus-induced lethal mutation in collagen I gene of mice is associated with an altered chromatin structure. Breindl, M., Harbers, K., Jaenisch, R. Cell (1984) [Pubmed]
  7. Germline integration of moloney murine leukemia virus at the Mov13 locus leads to recessive lethal mutation and early embryonic death. Jaenisch, R., Harbers, K., Schnieke, A., Löhler, J., Chumakov, I., Jähner, D., Grotkopp, D., Hoffmann, E. Cell (1983) [Pubmed]
  8. Correct cell- and differentiation-specific expression of a murine alpha 1 (I) collagen minigene in vitro differentiating embryonal carcinoma cells. Rhodes, K., Hall, K., Lee, K.E., Razzaghi, H., Breindl, M. Gene Expr. (1996) [Pubmed]
  9. Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation. Selleri, L., Depew, M.J., Jacobs, Y., Chanda, S.K., Tsang, K.Y., Cheah, K.S., Rubenstein, J.L., O'Gorman, S., Cleary, M.L. Development (2001) [Pubmed]
  10. The globular domain of the proalpha 1(I) N-propeptide is not required for secretion, processing by procollagen N-proteinase, or fibrillogenesis of type I collagen in mice. Bornstein, P., Walsh, V., Tullis, J., Stainbrook, E., Bateman, J.F., Hormuzdi, S.G. J. Biol. Chem. (2002) [Pubmed]
  11. Col1a1-driven transgenic markers of osteoblast lineage progression. Dacic, S., Kalajzic, I., Visnjic, D., Lichtler, A.C., Rowe, D.W. J. Bone Miner. Res. (2001) [Pubmed]
  12. Multiple collagen I gene regulatory elements have sites of stress-induced DNA duplex destabilization and nuclear scaffold/matrix association potential. Mielke, C., Christensen, M.O., Westergaard, O., Bode, J., Benham, C.J., Breindl, M. J. Cell. Biochem. (2002) [Pubmed]
  13. Molecular complementation of a collagen mutation in mammalian cells using yeast artificial chromosomes. Strauss, W.M., Jaenisch, R. EMBO J. (1992) [Pubmed]
  14. Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest. Mori-Akiyama, Y., Akiyama, H., Rowitch, D.H., de Crombrugghe, B. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  15. Ocular hypertension in mice with a targeted type I collagen mutation. Aihara, M., Lindsey, J.D., Weinreb, R.N. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  16. Osteoblastic response to the defective matrix in the osteogenesis imperfecta murine (oim) mouse. Kalajzic, I., Terzic, J., Rumboldt, Z., Mack, K., Naprta, A., Ledgard, F., Gronowicz, G., Clark, S.H., Rowe, D.W. Endocrinology (2002) [Pubmed]
  17. Suppression of type I collagen gene expression by prostaglandins in fibroblasts is mediated at the transcriptional level. Riquet, F.B., Lai, W.F., Birkhead, J.R., Suen, L.F., Karsenty, G., Goldring, M.B. Mol. Med. (2000) [Pubmed]
  18. 1,25-Dihydroxyvitamin D3 inhibition of col1a1 promoter expression in calvariae from neonatal transgenic mice. Bedalov, A., Salvatori, R., Dodig, M., Kapural, B., Pavlin, D., Kream, B.E., Clark, S.H., Woody, C.O., Rowe, D.W., Lichtler, A.C. Biochim. Biophys. Acta (1998) [Pubmed]
  19. YY1 is a positive regulator of transcription of the Col1a1 gene. Riquet, F.B., Tan, L., Choy, B.K., Osaki, M., Karsenty, G., Osborne, T.F., Auron, P.E., Goldring, M.B. J. Biol. Chem. (2001) [Pubmed]
  20. The high mobility group transcription factor Sox8 is a negative regulator of osteoblast differentiation. Schmidt, K., Schinke, T., Haberland, M., Priemel, M., Schilling, A.F., Mueldner, C., Rueger, J.M., Sock, E., Wegner, M., Amling, M. J. Cell Biol. (2005) [Pubmed]
  21. Bone morphogenetic proteins in bone stimulate osteoclasts and osteoblasts during bone development. Okamoto, M., Murai, J., Yoshikawa, H., Tsumaki, N. J. Bone Miner. Res. (2006) [Pubmed]
  22. Type I collagen-deficient Mov-13 mice do not retain SPARC in the extracellular matrix: implications for fibroblast function. Iruela-Arispe, M.L., Vernon, R.B., Wu, H., Jaenisch, R., Sage, E.H. Dev. Dyn. (1996) [Pubmed]
  23. Viscoelastic properties of skin in Mov-13 and Tsk mice. Del Prete, Z., Antoniucci, S., Hoffman, A.H., Grigg, P. Journal of biomechanics. (2004) [Pubmed]
  24. Osteocyte and osteoblast apoptosis and excessive bone deposition accompany failure of collagenase cleavage of collagen. Zhao, W., Byrne, M.H., Wang, Y., Krane, S.M. J. Clin. Invest. (2000) [Pubmed]
  25. Chromosomal position and activation of retroviral genomes inserted into the germ line of mice. Jaenisch, R., Jähner, D., Nobis, P., Simon, I., Löhler, J., Harbers, K., Grotkopp, D. Cell (1981) [Pubmed]
  26. Retroviruses and insertional mutagenesis in mice: proviral integration at the Mov 34 locus leads to early embryonic death. Soriano, P., Gridley, T., Jaenisch, R. Genes Dev. (1987) [Pubmed]
  27. Optic nerve damage in mice with a targeted type I collagen mutation. Mabuchi, F., Lindsey, J.D., Aihara, M., Mackey, M.R., Weinreb, R.N. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  28. Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture. Rahkonen, O., Su, M., Hakovirta, H., Koskivirta, I., Hormuzdi, S.G., Vuorio, E., Bornstein, P., Penttinen, R. Circ. Res. (2004) [Pubmed]
  29. Medial collateral ligament healing in macrophage metalloelastase (MMP-12)-deficient mice. Wright, R.W., Allen, T., El-Zawawy, H.B., Brodt, M.D., Silva, M.J., Gill, C.S., Sandell, L.J. J. Orthop. Res. (2006) [Pubmed]
  30. A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling. Liu, X., Wu, H., Byrne, M., Jeffrey, J., Krane, S., Jaenisch, R. J. Cell Biol. (1995) [Pubmed]
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