Genomes and Genes
Gene Symbol: Col1a2
Description: collagen type I alpha 2 chain
Alias: collagen alpha-2(I) chain, alpha-2 type I collagen, collagen, type I, alpha 2, procollagen, type I, alpha 2
- Tahashi Y, Matsuzaki K, Date M, Yoshida K, Furukawa F, Sugano Y, et al. Differential regulation of TGF-beta signal in hepatic stellate cells between acute and chronic rat liver injury. Hepatology. 2002;35:49-61 pubmed..injury, HSC-derived TGF-beta increased plasminogen activator inhibitor type 1 (PAI-1) and alpha2(I) procollagen (COL1A2) transcripts...
- Xu Y, Wang L, Buttice G, Sengupta P, Smith B. Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex. J Biol Chem. 2003;278:49134-44 pubmed..Thus, these studies suggest an important role for RFX5 complex in collagen repression. ..
- Forlino A, Kuznetsova N, Marini J, Leikin S. Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI. Matrix Biol. 2007;26:604-14 pubmed..Based on these and our previous findings, we argue that the outcome in Brtl IV may be significantly affected by cellular stress and malfunction caused by the retention and degradation of newly synthesized mutant collagen. ..
- Hirose T, Nakazato K, Song H, Ishii N. TGF-beta1 and TNF-alpha are involved in the transcription of type I collagen alpha2 gene in soleus muscle atrophied by mechanical unloading. J Appl Physiol (1985). 2008;104:170-7 pubmedThe aim of this study was to examine the effect of hindlimb suspension (HS) on the expressions of COL1A2 (type I collagen alpha(2) chain) mRNA and its regulatory factors, transforming growth factors (TGF)-beta(1), -beta(2), and -beta(3), ..
- Taddese S, Jung M, Ihling C, Heinz A, Neubert R, Schmelzer C. MMP-12 catalytic domain recognizes and cleaves at multiple sites in human skin collagen type I and type III. Biochim Biophys Acta. 2010;1804:731-9 pubmed publisher..Taken together, the results of the present work confirm that the catalytic domain of MMP-12 alone binds and degrades collagens I and III. ..
- Luchsinger L, Patenaude C, Smith B, Layne M. Myocardin-related transcription factor-A complexes activate type I collagen expression in lung fibroblasts. J Biol Chem. 2011;286:44116-25 pubmed publisher..Analysis of the COL1A2 proximal promoter revealed a noncanonical CArG box (CCAAACTTGG), flanked by several Sp1 sites important for MRTF-A ..
- Yao J, Eghbali M. Decreased collagen gene expression and absence of fibrosis in thyroid hormone-induced myocardial hypertrophy. Response of cardiac fibroblasts to thyroid hormone in vitro. Circ Res. 1992;71:831-9 pubmed..Collagen synthesis as shown by immunofluorescent staining of intracellular collagen in cultured fibroblasts and in frozen sections of myocardium was also diminished.(ABSTRACT TRUNCATED AT 250 WORDS) ..
- Guenette D, Ritzenthaler J, Foley J, Jackson J, Smith B. DNA methylation inhibits transcription of procollagen alpha 2(I) promoters. Biochem J. 1992;283 ( Pt 3):699-703 pubmed..This provides further evidence that methylation at specific sites in the collagen alpha 2(I) promoter is responsible for the inactivation of transcription in W8 cells. ..
- Wang L, Tankersley L, Tang M, Potter J, Mezey E. Regulation of alpha 2(I) collagen expression in stellate cells by retinoic acid and retinoid X receptors through interactions with their cofactors. Arch Biochem Biophys. 2004;428:92-8 pubmed
- Terashima H, Kato M, Yasumo H, Tsuchida H, Mizuno M, Sada T. A sensitive short-term evaluation of antifibrotic effects using newly established type I collagen reporter transgenic rats. Am J Physiol Renal Physiol. 2010;299:F792-801 pubmed publisher..under the control of the 5'-flanking region of rat ?(1)(I) collagen (Col1a1-Luc Tg rats) and ?(2)(I) collagen (Col1a2-Luc Tg rats)...
- Ellis L, Warner D, Greene R, Pisano M. Interaction of Smads with collagen types I, III, and V. Biochem Biophys Res Commun. 2003;310:1117-23 pubmed..Moreover, TGFbeta is a potent regulator of collagen synthesis and turnover during mammalian orofacial development. These data thus suggest an important means of feedback regulation of the TGFbeta signaling cascade. ..
- Lu K, Stultz C. Insight into the degradation of type-I collagen fibrils by MMP-8. J Mol Biol. 2013;425:1815-25 pubmed publisher..More precisely, our findings suggest that thermal fluctuations serve as the driving force for a degradative process that requires both an unfolded cleavage site and the presence of the enzyme. ..
- Fietzek P, Kell I, Kuhn K. The covalent structure of collagen. Amino acid sequence of the N-terminal region of 2-CB4 from calf and rat skin collagen. FEBS Lett. 1972;26:66-8 pubmed
- Highberger J, Kang A, Gross J. Comparative studies on the amino acid sequence of the alpha 2-CB2 peptides from chick and rat skin collagens. Biochemistry. 1971;10:610-6 pubmed
- Chipman S, Sweet H, McBride D, Davisson M, Marks S, Shuldiner A, et al. Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1993;90:1701-5 pubmed..The oim mouse will facilitate the study of type I collagen-related skeletal disease. ..
- Arosio B, Santambrogio D, Gagliano N, Annoni G. Changes in expression of the albumin, fibronectin and type I procollagen genes in CCl4-induced liver fibrosis: effect of pyridoxol L,2-pyrrolidon-5 carboxylate. Pharmacol Toxicol. 1993;73:301-4 pubmed..In contrast, albumin mRNA levels, almost identical in control and metadoxine-treated rats, were lower in the CCl4-treated animals. These data suggest that metadoxine might slow the development of CCl4-mediated liver fibrosis. ..
- Sengupta P, Fargo J, Smith B. The RFX family interacts at the collagen (COL1A2) start site and represses transcription. J Biol Chem. 2002;277:24926-37 pubmedThe transcription start site of the collagen alpha2(1) gene (COL1A2) has a sequence-specific binding site for a DNA methylation-responsive binding protein called regulatory factor for X-box 1 (RFX1) (Sengupta, P. K., Erhlich, M...
- Balk M, Bray J, Day C, Epperly M, Greenberger J, Evans C, et al. Effect of rhBMP-2 on the osteogenic potential of bone marrow stromal cells from an osteogenesis imperfecta mouse (oim). Bone. 1997;21:7-15 pubmed..Under basal conditions, however, the stromal cells from oim mice exhibited significantly lower levels of alkaline phosphatase activity than their normal littermates. ..
- Espira L, Lamoureux L, Jones S, Gerard R, Dixon I, Czubryt M. The basic helix-loop-helix transcription factor scleraxis regulates fibroblast collagen synthesis. J Mol Cell Cardiol. 2009;47:188-95 pubmed publisher..These data support a novel and previously unknown role for scleraxis in the regulation of collagen gene expression in the heart, including in post-infarct scar formation. ..
- Yoneyama T, Kasuya H, Onda H, Akagawa H, Hashiguchi K, Nakajima T, et al. Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. Stroke. 2004;35:443-8 pubmedThe collagen alpha2(I) gene (COL1A2) on chromosome 7q22.1, a positional and functional candidate for intracranial aneurysm (IA), was extensively screened for susceptibility in Japanese IA patients...
- Pace J, Wiese M, Drenguis A, Kuznetsova N, Leikin S, Schwarze U, et al. Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. J Biol Chem. 2008;283:16061-7 pubmed publisher..is a heterotrimer composed of two proalpha1(I) chains and one proalpha2(I) chain, encoded by the COL1A1 and COL1A2 genes, respectively...
- Superti Furga A, Pistone F, Romano C, Steinmann B. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. J Med Genet. 1989;26:358-62 pubmedWe report a family in which dominant osteogenesis imperfecta segregates with a COL1A2 haplotype and is associated with a structural defect in the helical region of the type I procollagen molecule...
- Malfait F, Symoens S, De Backer J, Hermanns Le T, Sakalihasan N, Lapiere C, et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007;28:387-95 pubmedMutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, cause osteogenesis imperfecta (OI) or Ehlers-Danlos syndrome (EDS) arthrochalasis type...
- Yamada Y, Ando F, Shimokata H. Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals. Int J Mol Med. 2007;19:675-83 pubmed..CAV1, and the -1213T-->C polymorphism of ESR2 by melting curve analysis, and that for the (GT)n polymorphism of COL1A2 were determined by DNA fragment analysis...
- Jha P, Manickam B, Matta B, Bora P, Bora N. Proteolytic cleavage of type I collagen generates an autoantigen in autoimmune uveitis. J Biol Chem. 2009;284:31401-11 pubmed publisher..Collectively, the evidence presented here suggests that MAA is an autoantigen in EAAU. These observations may extend to idiopathic human anterior uveitis and facilitate the development of antigen-specific therapy. ..
- Su N, Sun Q, Li C, Lu X, Qi H, Chen S, et al. Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis. Hum Mol Genet. 2010;19:1199-210 pubmed publisher..Our studies provide new insight into the mechanism underlying the development of ACH. ..
- Zhang K, Gharaee Kermani M, McGarry B, Phan S. In situ hybridization analysis of rat lung alpha 1(I) and alpha 2(I) collagen gene expression in pulmonary fibrosis induced by endotracheal bleomycin injection. Lab Invest. 1994;70:192-202 pubmed..This then can result in further expansion to adjacent parenchyma and alveolar areas. ..
- Itoh Y, Kimoto K, Imaizumi M, Nakatsuka K. Inhibition of RhoA/Rho-kinase pathway suppresses the expression of type I collagen induced by TGF-beta2 in human retinal pigment epithelial cells. Exp Eye Res. 2007;84:464-72 pubmed..The effects of simvastatin or Y27632 on the type I collagen mRNA (COL1A1 and COL1A2) expression induced by TGF-beta2 were evaluated by real-time RT-PCR...
- Ohsaki Y, Nagata K. Type III collagen is a major component of interodontoblastic fibers of the developing mouse molar root. Anat Rec. 1994;240:308-13 pubmed..This study presents for the first time, immunohistochemical observations which demonstrate the presence of IOF at least during root circumpulpal dentin formation and which reveal that type III collagen is a major component of IOF. ..
- Grant S, Reid D, Blake G, Herd R, Fogelman I, Ralston S. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet. 1996;14:203-5 pubmed
- Kang A, Bornstein P, Piez K. The amino acid sequence of peptides from the cross-linking region of rat skin collagen. Biochemistry. 1967;6:788-95 pubmed
- Schwarze U, Hata R, McKusick V, Shinkai H, Hoyme H, Pyeritz R, et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet. 2004;74:917-30 pubmedSplice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of exon 6, as well as to mild, moderate, or lethal forms of osteogenesis imperfecta ..
- Yang Z, Ke Z, Zeng C, Wang Z, Shi H, Wang L. Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta. Genet Mol Res. 2011;10:177-85 pubmed publisher..Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype...
- Fietzek P, Kuhn K. The covalent structure of collagen: amino acid sequence of the N-terminal region of alpha2-CB3 from rat skin collagen and alpha2-CB3.5 from calf skin collagen. Hoppe Seylers Z Physiol Chem. 1974;355:647-50 pubmed
- Genovese C, Rowe D, Kream B. Construction of DNA sequences complementary to rat alpha 1 and alpha 2 collagen mRNA and their use in studying the regulation of type I collagen synthesis by 1,25-dihydroxyvitamin D. Biochemistry. 1984;23:6210-6 pubmed..The rat cDNA probes were used in a dot hybridization assay to measure the type I collagen mRNA content in the fetal rat calvaria.(ABSTRACT TRUNCATED AT 250 WORDS) ..
- Bhambi B, Eghbali M. Effect of norepinephrine on myocardial collagen gene expression and response of cardiac fibroblasts after norepinephrine treatment. Am J Pathol. 1991;139:1131-42 pubmed
- Anania F, Womack L, Jiang M, Saxena N. Aldehydes potentiate alpha(2)(I) collagen gene activity by JNK in hepatic stellate cells. Free Radic Biol Med. 2001;30:846-57 pubmed..In conclusion, JNK activation appears to be critical in the signaling cascade of oxidative metabolites of chronic alcohol-related liver injury and collagen gene activation. ..
- Yan X, Hao X, Nie Q, Feng C, Wang H, Sun Z, et al. Effects of fluoride on the ultrastructure and expression of Type I collagen in rat hard tissue. Chemosphere. 2015;128:36-41 pubmed publisher..Furthermore, we investigated the effect of F consumption on the expression levels of COL1A1 and COL1A2 in the bone tissues of rats by using quantitative real time (qRT)-PCR, to elucidate the molecular mechanisms of F-..
- Fietzek P, Piez K. Isolation and characterization of the cyanogen bromide peptides from the alpha 2 chain of rat skin collagen. Biochemistry. 1969;8:2129-33 pubmed
- Lee K, Song H, Cho T, Kim H, Lee T, Jin H, et al. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Hum Mutat. 2006;27:599 pubmedMutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI)...
- Forlino A, Porter F, Lee E, Westphal H, Marini J. Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem. 1999;274:37923-31 pubmed..Alternative splicing involving the stop cassette results in retention of non-collagenous sequences. These mice reproduce the lethal phenotype of similar human mutations and are designated BrtlII. ..
- Klein L, Sigel A, Douglas J, EGHBALI WEBB M. Upregulation of collagen type I gene expression in the ventricular myocardium of thyroidectomized male and female rats. J Mol Cell Cardiol. 1996;28:33-42 pubmed..They further suggest that normal production of collagen matrix in the heart may be dependent on the functional status of thyroid hormones. ..