Genomes and Genes
type I collagen
Gene Symbol: type I collagen
Description: collagen type I alpha 1 chain
Alias: EDSARTH1, EDSC, OI1, OI2, OI3, OI4, collagen alpha-1(I) chain, alpha-1 type I collagen, alpha1(I) procollagen, collagen alpha 1 chain type I, collagen alpha-1(I) chain preproprotein, collagen of skin, tendon and bone, alpha-1 chain, collagen, type I, alpha 1, pro-alpha-1 collagen type 1, type I proalpha 1, type I procollagen alpha 1 chain
Products: type I collagen
- Liang C, Hung K, Tsai Y, Chang W, Wang H, Juo S. Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia. J Hum Genet. 2007;52:374-7 pubmed..Single nucleotide polymorphisms (SNPs) at the type I collagen alpha-1 gene (COL1A1) may cause different susceptibilities to myopia...
- Dimasi D, Chen J, Hewitt A, Klebe S, Davey R, Stirling J, et al. Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet. 2010;127:33-44 pubmed publisherOsteogenesis imperfecta (OI) is a rare connective tissue disorder caused by mutations in the type I collagen genes, COL1A1 and COL1A2, and is characterised by low bone mass and bone fragility...
- Skorupski P, Król J, Starega J, Adamiak A, Jankiewicz K, Rechberger T. An alpha-1 chain of type I collagen Sp1-binding site polymorphism in women suffering from stress urinary incontinence. Am J Obstet Gynecol. 2006;194:346-50 pubmed..of G-->T substitution in transcription factor Sp1-binding site in the gene encoding alpha-1 chain of type I collagen on the risk of stress urinary incontinence...
- Ralston S, Uitterlinden A, Brandi M, Balcells S, Langdahl B, Lips P, et al. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med. 2006;3:e90 pubmed..The associations we observed were modest however, demonstrating the importance of conducting studies that are adequately powered to detect and quantify the effects of common genetic variants on complex diseases. ..
- Patel K, Szabo S, Hernandez V, Prieto V, Abruzzo L, Lazar A, et al. Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridiza. Hum Pathol. 2008;39:184-93 pubmed..Its detection may be particularly helpful in the differential diagnosis of atypical, fibrosarcomatous, and metastatic DFSP...
- Inamori Y, Ota M, Inoko H, Okada E, Nishizaki R, Shiota T, et al. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet. 2007;122:151-7 pubmed..6) and associated with high myopia (P = 0.028, Pc< 0.084). Together our results provide the first evidence for COL1A1 as a gene associated with high myopia. ..
- Rodrigues A, Girão M, da Silva I, Sartori M, Martins K, Castro R. COL1A1 Sp1-binding site polymorphism as a risk factor for genital prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2008;19:1471-5 pubmed publisher..The control group included 209 women with stages 0 and I. The polymorphism of type I collagen Sp1-binding site was identified by amplification of the first intron of the COL1A1 gene...
- Metlapally R, Li Y, Tran Viet K, Abbott D, Czaja G, Malecaze F, et al. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci. 2009;50:4080-6 pubmed publisher..COL1A1 gene polymorphisms were not associated with myopia in our dataset, indicating possible heterogeneity across different ethnicities. ..
- Stewart T, Jin H, McGuigan F, Albagha O, Garcia Giralt N, Bassiti A, et al. Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women. J Clin Endocrinol Metab. 2006;91:3575-83 pubmed..Two haplotypes defined by polymorphisms in the 5' flank of the COLIA1 regulate BMD in a bidirectional manner in women. ..
- Nwosu B, Raygada M, Tsilou E, Rennert O, Stratakis C. Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. Ophthalmic Genet. 2005;26:135-8 pubmed..We speculate that the course of his disease and, perhaps, its co-existence with OI could be exacerbated by his collagen type-I defect, although no causality can be established by this report of a single case. ..
- Llombart B, Sanmartin O, Lopez Guerrero J, Monteagudo C, Serra C, Requena C, et al. Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications. Histopathology. 2009;54:860-72 pubmed publisher..No association was observed between different COL1A1 breakpoints and clinicopathological parameters. Imatinib mesylate can be useful in locally advanced tumours and metastases. ..
- Qiao J, Patel K, Lopez Terrada D, Fang H. Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement. Diagn Pathol. 2012;7:166 pubmed publisher..This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans...
- Benusiené E, Kucinskas V. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. J Appl Genet. 2003;44:95-102 pubmed..1668delT, c.1667insC, c.4337insC, IVS19+1G > A, IVS20-2A > G, IVS22-1G > T) appeared to be novel, i.e. not yet registered in the Human Type I and Type III Collagen Mutations Database (http://www.le.ac.uk/genetics/collagen). ..
- Jin H, van t Hof R, Albagha O, Ralston S. Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis. Hum Mol Genet. 2009;18:2729-38 pubmed publisher..This is consistent with a model whereby increased COL1A1 transcription predisposes to osteoporosis, probably by increasing production of the alpha 1 chain and disrupting the normal ratio of collagen type 1 alpha 1 and alpha 2 chains. ..
- Bodian D, Madhan B, Brodsky B, Klein T. Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations. Biochemistry. 2008;47:5424-32 pubmed publisher..glycine residues present in the repeating Gly-X-Y sequence characterizing the triple-helical region of type I collagen. A composite model was developed for predicting the clinical lethality resulting from glycine mutations in ..
- 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..The milder OI phenotypes likely reflect a diminished amount of normal type I procollagen, small populations of overmodified heterotrimers, and proalpha1(I) homotrimers that are compatible with normal skeletal growth. ..
- 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...
- Hong F, Saiman Y, Si C, Mosoian A, Bansal M. X4 Human immunodeficiency virus type 1 gp120 promotes human hepatic stellate cell activation and collagen I expression through interactions with CXCR4. PLoS ONE. 2012;7:e33659 pubmed publisher..X4 HIV-1 gp120 is pro-fibrogenic through its interactions with CXCR4 on activated HSCs. The availability of small molecule inhibitors to CXCR4 make this a potential anti-fibrotic target in HIV/HCV coinfected patients. ..
- 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 publisherOsteogenesis 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...
- Hartikka H, Kuurila K, Korkko J, Kaitila I, Grenman R, Pynnönen S, et al. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat. 2004;24:147-54 pubmed..imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the alpha1 and alpha2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural ..
- Graille M, Pagano M, Rose T, Ravaux M, van Tilbeurgh H. Zinc induces structural reorganization of gelatin binding domain from human fibronectin and affects collagen binding. Structure. 2010;18:710-8 pubmed publisher..These data suggest the Zn may play a regulatory role for the cellular functions of fibronectin. ..
- Lei S, Deng F, Liu X, Huang Q, Qin Y, Zhou Q, et al. Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity. J Bone Miner Metab. 2003;21:34-42 pubmed
- Skorupski P, Miotła P, Jankiewicz K, Rechberger T. Polymorphism of the gene encoding alpha-1 chain of collagen type I and a risk of pelvic organ prolapse--a preliminary study. Ginekol Pol. 2007;78:852-5 pubmedPolymorphism of the gene encoding alpha-1 chain of type I collagen (COL1A1) may influence the mechanical properties of the pelvic floor connective tissue...
- Liu P, Lu Y, Long J, Xu F, Shen H, Recker R, et al. Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians. J Med Genet. 2004;41:752-7 pubmed..In addition, our study highlighted the importance of multivariate analyses when multiple correlated phenotypes are under study. ..
- Lau H, Ng M, Ho A, Luk K, Kung A. Genetic and environmental determinants of bone mineral density in Chinese women. Bone. 2005;36:700-9 pubmed..8% at trochanter). We conclude that BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions. ..
- Tran B, Nguyen N, Center J, Eisman J, Nguyen T. Enhancement of absolute fracture risk prognosis with genetic marker: the collagen I alpha 1 gene. Calcif Tissue Int. 2009;85:379-88 pubmed publisher..The nonograms presented here can be useful for individualizing the short- and intermediate-term prognosis of fracture risk and help identify high-risk individuals for intervention for appropriate management of osteoporosis. ..
- Makareeva E, Cabral W, Marini J, Leikin S. Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. J Biol Chem. 2006;281:6463-70 pubmed..participate in a highly stable folding domain, acting as the stabilizing anchor for the amino end of the type I collagen triple helix...
- Lau E, Choy D, Li M, Woo J, Chung T, Sham A. The relationship between COLI A1 polymorphisms (Sp 1) and COLI A2 polymorphisms (Eco R1 and Puv II) with bone mineral density in Chinese men and women. Calcif Tissue Int. 2004;75:133-7 pubmed..across variable restriction sites of the COLI A1 and COLI A2 genes that encode the alpha 1 and 2 subunits of type I collagen. The relationship between these polymorphisms and bone mineral density (BMD) was studied in 683 Chinese men ..
- Nakanishi H, Yamada R, Gotoh N, Hayashi H, Otani A, Tsujikawa A, et al. Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population. Invest Ophthalmol Vis Sci. 2009;50:544-50 pubmed publisher..This study did not replicate the previously reported positive association between COL1A1 and high myopia in the Japanese population, and thus the genetic risk associated with this gene, if any, is weaker than originally reported. ..
- Nerenberg P, Stultz C. Differential unfolding of alpha1 and alpha2 chains in type I collagen and collagenolysis. J Mol Biol. 2008;382:246-56 pubmed publisher..mechanism of collagen degradation, we used molecular dynamics simulations to explore the structure of human type I collagen in the vicinity of the collagenase cleavage site...
- Simsek M, Cetin Z, Bilgen T, Taskin O, Luleci G, Keser I. Effects of hormone replacement therapy on bone mineral density in Turkish patients with or without COL1A1 Sp1 binding site polymorphism. J Obstet Gynaecol Res. 2008;34:73-7 pubmed publisher..Therefore our study may provide evidence that the Sp1 polymorphism may ameliorate the effects of HRT on BMD, suggesting some additional regimens may be used to support bone strength and to decrease osteoporotic fractures. ..
- Mann V, Ralston S. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone. 2003;32:711-7 pubmed..We conclude that the COL1A1 Sp1 alleles are associated with a modest reduction in BMD and a significant increase in risk of osteoporotic fracture, particularly vertebral fracture. ..
- Braga V, Sangalli A, Malerba G, Mottes M, Mirandola S, Gatti D, et al. Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men. Calcif Tissue Int. 2002;70:457-62 pubmed..The lower BMD in CC genotype is apparently associated in males with depressed bone formation and lower estradiol levels. ..
- Zeller C, Dai W, Steele N, Siddiq A, Walley A, Wilhelm Benartzi C, et al. Candidate DNA methylation drivers of acquired cisplatin resistance in ovarian cancer identified by methylome and expression profiling. Oncogene. 2012;31:4567-76 pubmed publisher..This combined genomics approach has identified further potential key drivers of chemoresistance whose expression is silenced by DNA methylation that should be further evaluated as clinical biomarkers of drug resistance...
- Bandres E, Pombo I, González Huarriz M, Rebollo A, Lopez G, Garcia Foncillas J. Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women. J Endocrinol Invest. 2005;28:312-21 pubmed..Of all the studied gene polymorphisms, the FokI VDR gene polymorphism seems to be the strongest BMD genetic determinant of postmenopausal Spanish women. ..
- Chessler S, Wallis G, Byers P. Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. J Biol Chem. 1993;268:18218-25 pubmed..These findings extend the range of lethal mutations in the type I collagen genes and help to identify regions of the carboxyl-terminal propeptide that may be important for chain-chain ..
- Chessler S, Byers P. BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta. J Biol Chem. 1993;268:18226-33 pubmed..The recognition by BiP of such procollagen in OI cell strains shows that BiP plays a role in the physiological response to the production of some disease-producing abnormal proteins. ..
- Nuytinck L, Dalgleish R, Spotila L, Renard J, Van Regemorter N, De Paepe A. Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. Hum Genet. 1996;97:324-9 pubmed..a point mutation causing the substitution of serine for glycine at position 661 of the alpha1(I) chain of type I collagen in a child with a severe form of osteogenesis imperfecta...
- Retief E, Parker M, Retief A. Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1). Hum Genet. 1985;69:304-8 pubmed..3-22.1. The location of the pro-alpha 1(I) collagen gene was found to be in band 17q21.31-2205. ..
- Uitterlinden A, Weel A, Burger H, Fang Y, van Duijn C, Hofman A, et al. Interaction between the vitamin D receptor gene and collagen type Ialpha1 gene in susceptibility for fracture. J Bone Miner Res. 2001;16:379-85 pubmed..Our data indicate that interlocus interaction is likely to be an important component of osteoporotic fracture risk. ..
- Efstathiadou Z, Tsatsoulis A, Ioannidis J. Association of collagen Ialpha 1 Sp1 polymorphism with the risk of prevalent fractures: a meta-analysis. J Bone Miner Res. 2001;16:1586-92 pubmed..Very large studies or meta-analyses are required to document subtle genetic differences in fracture risk. ..
- Lambrinoudaki I, Kung A. Absence of high-risk "s" allele associated with osteoporosis at the intronic SP1 binding-site of collagen Ialpha1 gene in Southern Chinese. J Endocrinol Invest. 2001;24:499-502 pubmed..The absence of this "high risk" allele may in part account for the reduced fracture risk observed in the Chinese in comparison to Western populations. ..
- 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..b>Type I collagen is the major protein of bone encoded by the COLIA1 and COLIA2 genes...
- Korkko J, Kuivaniemi H, Paassilta P, Zhuang J, Tromp G, DePaepe A, et al. Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. Hum Mutat. 1997;9:148-56 pubmed..About 80% of these identical mutations were in CpG dinucleotide sequences. ..
- Bateman J, Lamande S, Dahl H, Chan D, Cole W. Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. J Biol Chem. 1988;263:11627-30 pubmedStructurally abnormal type I collagen was identified in tissues and cultured fibroblasts from a case of lethal perinatal osteogenesis imperfecta...
- McGuigan F, Armbrecht G, Smith R, Felsenberg D, Reid D, Ralston S. Prediction of osteoporotic fractures by bone densitometry and COLIA1 genotyping: a prospective, population-based study in men and women. Osteoporos Int. 2001;12:91-6 pubmed..We conclude that in our population, COLIA1 genotyping predicts fractures independently of bone mass and interacts with bone densitometry to help identify women who are at high and low risk of sustaining osteoporotic fractures. ..
- Staatz W, Walsh J, Pexton T, Santoro S. The alpha 2 beta 1 integrin cell surface collagen receptor binds to the alpha 1 (I)-CB3 peptide of collagen. J Biol Chem. 1990;265:4778-81 pubmed..containing the purified receptor complex indicated that the alpha 2 beta 1 receptor recognized denatured type I collagen in a Mg2(+)-dependent manner...
- Lund A, Skovby F, Schwartz M. Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. Hum Mutat. 1997;9:378-82 pubmed
- Westerhausen A, Kishi J, Prockop D. Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperativ. J Biol Chem. 1990;265:13995-4000 pubmed..were more stable to protease digestion than the collagenase A fragments of 775 residues from normal type I collagen. The results demonstrate that the effects of glycine substitutions on the thermal unfolding of type I ..
- Lund A, Aström E, Soderhall S, Schwartz M, Skovby F. Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online. Hum Mutat. 1999;13:503 pubmed..Data regarding the G688S substitution may suggest a different effect of the two a-chains in the development of dentinogenesis imperfecta (DI). ..
- Korkko J, Ala Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop D. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-al. Am J Hum Genet. 1998;62:98-110 pubmed..Analysis of the data developed in this study and elsewhere revealed common sequences for mutations causing null alleles. ..
- MacKay K, Byers P, Dalgleish R. An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. Hum Mol Genet. 1993;2:1155-60 pubmedA strategy has been developed to allow the screening for mutations in the cDNA of the type I collagen alpha 1 chain...
- Hsieh H, Lee W, Senadi G, Hu W, Liang J, Tsai T, et al. Discovery, synthetic methodology, and biological evaluation for antiphotoaging activity of bicyclic[1,2,3]triazoles: in vitro and in vivo studies. J Med Chem. 2013;56:5422-35 pubmed publisher..Our results indicate that bicyclic[1,2,3]triazoles protect UVA-induced senescence-like characteristics in FB cells, which may provide potential prevention against photoaging. ..