Genomes and Genes
collagen type viii
Summary: A non-fibrillar collagen originally found in DESCEMET MEMBRANE. It is expressed in endothelial cell layers and in tissues undergoing active remodeling. It is heterotrimer comprised of alpha1(VIII) and alpha2(VIII) chains.
- Desronvil T, Logan Wyatt D, Abdrabou W, Triana M, Jones R, Taheri S, et al. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. Mol Vis. 2010;16:2185-91 pubmed..Further study of COL8A2 variants in other patient populations, especially those with thinner CCT such as African-Americans would provide further support for a role of COL8A2 in corneal thickness and in glaucoma. ..
- Urquhart J, Biswas S, Black G, Munier F, Sutphin J. Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. Br J Ophthalmol. 2006;90:1430-1 pubmed
- Stephan S, Sherratt M, Hodson N, Shuttleworth C, Kielty C. Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers. J Biol Chem. 2004;279:21469-77 pubmed..Tetrahedrons may then act as building blocks of three-dimensional hexagonal lattices generated by secondary interactions involving terminal and helical sequences. ..
- Kobayashi A, Fujiki K, Murakami A, Kato T, Chen L, Onoe H, et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol. 2004;48:195-8 pubmed
- Puk O, Dalke C, Calzada Wack J, Ahmad N, Klaften M, Wagner S, et al. Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse. Invest Ophthalmol Vis Sci. 2009;50:5653-61 pubmed publisher..The results of this study suggest that a functional collagen VIII alpha2 is essential for the correct assembly of the Descemet's membrane and for corneal stability. Aca23 might be used as a novel model for keratoglobus. ..
- Hopfer U, Fukai N, Hopfer H, Wolf G, Joyce N, Li E, et al. Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye. FASEB J. 2005;19:1232-44 pubmed..An important function of collagen VIII may therefore be to generate a peri- or subcellular matrix environment that permits or stimulates cell proliferation. ..
- Chen K, Azar D, Joyce N. Transplantation of adult human corneal endothelium ex vivo: a morphologic study. Cornea. 2001;20:731-7 pubmed..endothelial origin by morphology and by reverse-transcription polymerase chain reaction for keratin 12 and collagen type VIII. In transplantation experiments, cultured cells were seeded onto denuded Descemet's membrane of a second ..
- Adiguzel E, Hou G, Mulholland D, Hopfer U, Fukai N, Olsen B, et al. Migration and growth are attenuated in vascular smooth muscle cells with type VIII collagen-null alleles. Arterioscler Thromb Vasc Biol. 2006;26:56-61 pubmed..This study suggests that SMCs can modify the matrix microenvironment by producing type VIII collagen, using it to overlay type I collagen, and generating a substrate favorable for migration. ..
- Liskova P, Prescott Q, Bhattacharya S, Tuft S. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. Br J Ophthalmol. 2007;91:1717-8 pubmed
- Aldave A, Bourla N, Yellore V, Rayner S, Khan M, Salem A, et al. Keratoconus is not associated with mutations in COL8A1 and COL8A2. Cornea. 2007;26:963-5 pubmed..The absence of pathogenic mutations in COL8A1 and COL8A2 in patients with keratoconus indicates that other genetic factors are involved in the pathogenesis of this corneal ectatic disorder. ..
- Yellore V, Rayner S, Emmert Buck L, Tabin G, Raber I, Hannush S, et al. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1599-603 pubmed
- Afshari N, Li Y, Pericak Vance M, Gregory S, Klintworth G. Genome-wide linkage scan in fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2009;50:1093-7 pubmed publisher..Genome-wide linkage analysis was used to identify potential linkage regions on chromosomes 1, 7, 15, 17, and X for FECD. The previously reported mutations in the COL8A2 gene were not found in the 92 samples tested. ..
- Vithana E, Aung T, Khor C, Cornes B, Tay W, Sim X, et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2011;20:649-58 pubmed publisher..5 × 10??). These findings implicate the involvement of collagen genes influencing CCT and thus, possibly the pathogenesis of glaucoma. ..
- Biswas S, Munier F, Yardley J, Hart Holden N, Perveen R, Cousin P, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-23 pubmed..This suggests that the underlying pathogenesis of FECD and PPCD may be related to disturbance of the role of type VIII collagen in influencing the terminal differentiation of the neural crest derived corneal endothelial cell. ..
- Hirano S, Yonezawa T, Hasegawa H, Hattori S, Greenhill N, Davis P, et al. Astrocytes express type VIII collagen during the repair process of brain cold injury. Biochem Biophys Res Commun. 2004;317:437-43 pubmed..These data indicate that type VIII collagen plays an important role in glial scar formation during the repair process by astrocytes. ..
- Minear M, Li Y, Rimmler J, Balajonda E, Watson S, Allingham R, et al. Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. Mol Vis. 2013;19:2508-16 pubmed..This observation is on par with findings from previous sequencing studies involving European or Asian ancestry patients with FECD. ..
- Lindberg M, Weihua Z, Andersson N, Moverare S, Gao H, Vidal O, et al. Estrogen receptor specificity for the effects of estrogen in ovariectomized mice. J Endocrinol. 2002;174:167-78 pubmed..Other effects of estrogen, such as increased trabecular bone mineral density, thymic atrophy, fat reduction and increased uterine weight, were mainly ERalpha mediated. ..
- Brancati F, Valente E, Sarkozy A, Feher J, Castori M, Del Duca P, et al. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet. 2004;41:188-92 pubmed
- Chen C, Chang J, Lee J, Javier J, Azar D. Human corneal epithelial cell viability and morphology after dilute alcohol exposure. Invest Ophthalmol Vis Sci. 2002;43:2593-602 pubmed..The application of dilute alcohol on the monolayer of cultured corneal epithelial cells resulted in increasing cell death in a dose- and time-dependent manner. ..
- Zhao Y, Jia L, Mao X, Xu H, Wang B, Liu Y. siRNA-targeted COL8A1 inhibits proliferation, reduces invasion and enhances sensitivity to D-limonence treatment in hepatocarcinoma cells. IUBMB Life. 2009;61:74-9 pubmed publisherThe COL8A1 (collagen type VIII, alpha-1) gene, which encodes the alpha 1 chain of collagen, type VIII, may modulate migration, proliferation and adherence of various cells...
- Yasuda O, Fukuo K, Maeda N, Ogihara T. Elevated expression of type VIII collagen gene in the atherosclerotic plaque of the ApoE-deficient mouse. Ann N Y Acad Sci. 2001;947:312-5 pubmed..Thus, differential production of type VIII collagen in SMCs from atherosclerotic plaques continues when the cells are maintained in culture. ..
- Boneker C, Muller D, Kuiper H, Drogemuller C, Chowdhary B, Distl O. Assignment of the COL8A2 gene to equine chromosome 2p15-p16 by FISH and confirmation by RH mapping. Anim Genet. 2005;36:444-5 pubmed
- Igo R, Kopplin L, Joseph P, Truitt B, Fondran J, Bardenstein D, et al. Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. PLoS ONE. 2012;7:e46742 pubmed publisher..Additionally, changes in corneal thickness due to the effect of other loci may modify disease severity, age-at-onset, or other biomechanical characteristics. ..
- Eghrari A, Riazuddin S, Gottsch J. Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2. Cornea. 2016;35:587-91 pubmed publisher..Leu450Trp) substitution in COL8A2, in at least 2 of 3 known affected families worldwide. We describe long-term progression and Descemet stripping endothelial keratoplasty for this disease for the first time. ..
- Merle B, Silver R, Rosner B, Seddon J. Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study. Am J Clin Nutr. 2015;102:1196-206 pubmed publisher..1 (ARMS2/HTRA1), complement component 2 (C2), complement factor B (CFB), complement component 3 (C3), collagen type VIII Î± 1 (COL8A1), and RAD51 paralog B (RAD51B)] were examined...
- Khan A, Aldahmesh M, Mohamed J, Al Mesfer S, Alkuraya F. The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol. 2012;96:890-5 pubmed publisher..Although it is a defining feature of the syndrome, clinically discernible occipital defect is not a sine qua non for the diagnosis. Ophthalmologists are uniquely able to diagnose Knobloch syndrome. ..
- Loeffler I, Hopfer U, Koczan D, Wolf G. Type VIII collagen modulates TGF-?1-induced proliferation of mesangial cells. J Am Soc Nephrol. 2011;22:649-63 pubmed publisher..Taken together, these data suggest that type VIII collagen significantly modulates the effect of TGF-?1 on mesangial cells and may therefore play a role in the pathogenesis of diabetic nephropathy. ..
- Gray R, Wilm T, Smith J, Bagnat M, Dale R, Topczewski J, et al. Loss of col8a1a function during zebrafish embryogenesis results in congenital vertebral malformations. Dev Biol. 2014;386:72-85 pubmed publisher..characterize three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column ..
- Hansen N, Willumsen N, Sand J, Larsen L, Karsdal M, Leeming D. Type VIII collagen is elevated in diseases associated with angiogenesis and vascular remodeling. Clin Biochem. 2016;49:903-8 pubmed publisher..Concentrations of C8-C were significantly elevated in serum from patients diagnosed with COPD and within 9 different cancer types, but not IPF. Further research is required to test C8-C as an efficacy marker for angiostatic treatments. ..
- Engler C, Kelliher C, Chang S, Meng H, Jun A. Cryopreservation and long-term culture of transformed murine corneal endothelial cells. Graefes Arch Clin Exp Ophthalmol. 2012;250:103-10 pubmed publisher..Cells retain the expression of NaK-ATPase, but show some decline in ZO1 and COL8A2 over time and after cryopreservation. The expression of myofibroblast markers suggests an endothelial-to-mesenchymal transformation process in culture. ..
- Gebauer J, Keene D, Olsen B, Sorokin L, Paulsson M, Wagener R. Mouse AMACO, a kidney and skin basement membrane associated molecule that mediates RGD-dependent cell attachment. Matrix Biol. 2009;28:456-62 pubmed publisher..However, the loss of cell adhesion to the C-terminal part of the human AMACO, due to the unique absence of an RGD sequence in the human protein, suggests that cell adhesion is not AMACO's major function. ..
- Hatou S, Yoshida S, Higa K, Miyashita H, Inagaki E, Okano H, et al. Functional corneal endothelium derived from corneal stroma stem cells of neural crest origin by retinoic acid and Wnt/?-catenin signaling. Stem Cells Dev. 2013;22:828-39 pubmed publisher..This protocol enables efficient production of corneal endothelium from corneal stromal stem cells by direct induction, which may lead to a novel stem cell therapy for corneal endothelial dysfunction...
- Chistiakov D, Sobenin I, Orekhov A. Vascular extracellular matrix in atherosclerosis. Cardiol Rev. 2013;21:270-88 pubmed publisher..These scaffolds possess a great promise in vascular tissue engineering. ..
- Abonia J, Wen T, Stucke E, Grotjan T, Griffith M, Kemme K, et al. High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. J Allergy Clin Immunol. 2013;132:378-86 pubmed publisher..Thus, we propose stratification of patients with EoE and CTDs into a subset referred to as EoE-CTD. ..
- Valleix S, Nedelec B, Rigaudiere F, Dighiero P, Pouliquen Y, Renard G, et al. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. Invest Ophthalmol Vis Sci. 2006;47:48-54 pubmed..To elucidate the retinal dysfunction and the molecular basis of posterior polymorphous corneal dystrophy (PPCD) associated with macular dystrophy, both inherited in a dominant manner through a three-generation family...
- Guo Z, Zhang T, Wu J, Wang H, Liu X, Tian L. Genetic polymorphisms in COL18A1 influence the development of osteosarcoma. Int J Clin Exp Pathol. 2015;8:11531-6 pubmed..In conclusion, our study suggests that the homozygous DN and NN genotypes of COL18A1 D104N were associated with the risk of osteosarcoma. ..
- Turner N, Murphy M, Kielty C, Shuttleworth C, Black R, Humphries M, et al. Alpha2(VIII) collagen substrata enhance endothelial cell retention under acute shear stress flow via an alpha2beta1 integrin-dependent mechanism: an in vitro and in vivo study. Circulation. 2006;114:820-9 pubmed
- Meng H, Matthaei M, Ramanan N, Grebe R, Chakravarti S, Speck C, et al. L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. Invest Ophthalmol Vis Sci. 2013;54:1887-97 pubmed publisher..Dram1 was associated with activation of the UPR and increased autophagy. Overexpression of this gene in mouse and human FECD endothelial cells suggested a role for altered autophagy in this disease. ..
- Sato D, Shimokawa O, Harada N, Olsen O, Hou J, Muhlbauer W, et al. Congenital arhinia: molecular-genetic analysis of five patients. Am J Med Genet A. 2007;143A:546-52 pubmed..Although our study failed to identify the putative arhinia gene, the data may become a clue to unravel the underlying mechanism of arhinia. ..
- Hoehn R, Zeller T, Verhoeven V, Grus F, Adler M, Wolfs R, et al. Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. Hum Genet. 2012;131:1783-93 pubmed publisher..In our Caucasian population-based GWA study, we reinforce the involvement of collagen-related genes influencing CCT in Caucasians. We could not confirm the collagen type 8 locus on chromosome 1 as reported in Asian studies. ..
- Corbett M, Turner S, Gardner A, Silver J, Stankovich J, Leventer R, et al. Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. Eur J Med Genet. 2017;60:437-443 pubmed publisher..Identification of COL18A1 mutations in individuals with a Lennox-Gastaut phenotype and anterior polymicrogyria but lacking the classical occipital encephalocele expands the COL18A1 clinical spectrum. ..
- Zhang L, Shen X, Lu Q, Zhou Q, Gu J, Gan R, et al. A potential therapeutic strategy for inhibition of ocular neovascularization with a new endogenous protein: rhEDI-8t. Graefes Arch Clin Exp Ophthalmol. 2012;250:731-9 pubmed publisher..It contributed to the suppression of ocular NV. The study suggested that rhEDI-8t could be a subsidiary potent therapeutic medicine in addition to anti-VEGF therapy in future clinical anti-angiogenesis treatment. ..
- Feng Y, Wu Y, Zhu X, Zhang Y, Ma Q. Endostatin promotes the anabolic program of rabbit chondrocyte. Cell Res. 2005;15:201-6 pubmed..Moreover collagenXVIII and endostatin antigens are present at synovial fluid. These findings indicate new function of endostatin as a homeostatic factor in cartilage metabolism. ..
- Loeffler I, Liebisch M, Wolf G. Collagen VIII influences epithelial phenotypic changes in experimental diabetic nephropathy. Am J Physiol Renal Physiol. 2012;303:F733-45 pubmed publisher..This study aimed to investigate whether collagen type VIII may influence the induction of EMT...
- Merle B, Silver R, Rosner B, Seddon J. Dietary folate, B vitamins, genetic susceptibility and progression to advanced nonexudative age-related macular degeneration with geographic atrophy: a prospective cohort study. Am J Clin Nutr. 2016;103:1135-44 pubmed..requirement A serine peptidase 1, complement component 2, complement component 3, complement factor B, collagen type VIII Î± 1, and RAD51 paralog B] were examined...
- Moroi S, Gokhale P, Schteingart M, Sugar A, Downs C, Shimizu S, et al. Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol. 2003;135:461-70 pubmed..We are unaware of previous PPMD reports describing the unusual feature of a retrocorneal membrane extending onto the crystalline lens and IOL. In addition, this family suggests another PPMD locus. ..
- Lam H, Wiggs J, Jurkunas U. Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus. Cornea. 2010;29:1180-5 pubmed publisher..There was a strong genetic phenotypic penetrance in the family, which was essential in the diagnostic decision making. A yet undetermined genotype is contributing to this unusual PPCD phenotype. ..
- Adiguzel E, Hou G, Sabatini P, Bendeck M. Type VIII collagen signals via ?1 integrin and RhoA to regulate MMP-2 expression and smooth muscle cell migration. Matrix Biol. 2013;32:332-41 pubmed publisher..In conclusion, we have shown that type VIII collagen signals through beta-1 integrin receptors to suppress RhoA, allowing optimal configuration of the cytoskeleton, and the stimulation of MMP-2-dependent cell migration. ..
- Koon N, Schneider Stock R, Sarlomo Rikala M, Lasota J, Smolkin M, Petroni G, et al. Molecular targets for tumour progression in gastrointestinal stromal tumours. Gut. 2004;53:235-40 pubmed..These results provide insight into the oncogenesis of GISTs and suggest that testing the expression profile of a number of genes may segregate GISTs into groups of different tumour behaviour. ..
- Chen M, Doostan A, Bandyopadhyay P, Remington J, Wang X, Hou Y, et al. The cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita. Am J Pathol. 2007;170:2009-18 pubmed..This is the first antigenic epitope on type VII collagen demonstrated to be a pathogenic target for EBA autoantibodies. ..
- Boudko S, Engel J, Bachinger H. The crucial role of trimerization domains in collagen folding. Int J Biochem Cell Biol. 2012;44:21-32 pubmed publisher..Here we review the current knowledge of the structure and function of these trimerization domains. ..
- Li Y, Li J, Woo Y, Shen Z, Yao H, Cai Y, et al. Enhanced expression of Vastatin inhibits angiogenesis and prolongs survival in murine orthotopic glioblastoma model. BMC Cancer. 2017;17:126 pubmed publisher..H1-Vastatin gene therapy may have important implications in re-sensitizing recurrent GB to standard chemotherapeutic agents. ..
- Kita Y, Mimori K, Tanaka F, Matsumoto T, Haraguchi N, Ishikawa K, et al. Clinical significance of LAMB3 and COL7A1 mRNA in esophageal squamous cell carcinoma. Eur J Surg Oncol. 2009;35:52-8 pubmed publisher..05). The evaluation of LAMB3 and COL7A1 mRNA expression is useful for predicting the malignant properties of ESC and may prove valuable in predicting the future course of the disease. ..
- Murphy M, Ghosh J, Halka A, Carter A, Turner N, Ferguson M, et al. In vivo attenuation of myointimal hyperplasia using transforming growth factor-beta3 in an interposition graft model. J Endovasc Ther. 2006;13:389-99 pubmed..Further analysis for the subendothelial matrix component collagen type VIII showed decreased levels on the treated side. Total elastin content was reduced on the TGFbeta3-treated side...
- Yu Y, Huang L, Wang B, Zhang C, Bai Y, Li X. COL8A1 rs13095226 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in Chinese subjects. Int J Clin Exp Pathol. 2015;8:11635-40 pubmed..05). This case-control study indicated that the COL8A1 rs13095226 polymorphism is not associated with nAMD or PCV, which suggesting this gene maybe not a susceptibility gene locus for nAMD or PCV in Chinese subjects. ..
- Li Q, Dai J, Rabie A. Recombinant adeno-associated virus serotype 2 (rAAV2)-An efficient vector for gene delivery in condylar cartilage, glenoid fossa and TMJ disc in an experimental study in vivo. Arch Oral Biol. 2009;54:943-50 pubmed publisher..Recombinant AAV2 could be considered as a promising vector for gene therapy in TMJ which can mediate therapeutic gene expression in glenoid fossa, articular disc and condylar cartilage in vivo. ..
- Chng Z, Peh G, Herath W, Cheng T, Ang H, Toh K, et al. High throughput gene expression analysis identifies reliable expression markers of human corneal endothelial cells. PLoS ONE. 2013;8:e67546 pubmed publisher..These were SLC4A11, COL8A2 and CYYR1. The use of this panel of genes in combination reliably ascertains the identity of the CEC cell type. ..
- Escobales N, Crespo M, Altieri P, Furilla R. Inhibition of smooth muscle cell calcium mobilization and aortic ring contraction by lactone vastatins. J Hypertens. 1996;14:115-21 pubmed..These agents also appear to exert competitive and non-competitive type antagonisms on noradrenaline action. ..
- Sinha S, Kielty C, Heagerty A, Canfield A, Shuttleworth C. Upregulation of collagen VIII following porcine coronary artery angioplasty is related to smooth muscle cell migration not angiogenesis. Int J Exp Pathol. 2001;82:295-302 pubmed..These data show that up-regulation of collagen VIII in the neoadventitia is an important early marker of the coronary arterial response to injury, and is not associated with new vessel formation. ..
- Kvansakul M, Bogin O, Hohenester E, Yayon A. Crystal structure of the collagen alpha1(VIII) NC1 trimer. Matrix Biol. 2003;22:145-52 pubmed
- Zhou Q, Du P, Qian Y, Zhang Q, Feng B, Ding H, et al. [Endothelial genesis inhibitor-8t (EDI-8t) against tumor growth]. Sheng Wu Gong Cheng Xue Bao. 2010;26:1724-31 pubmed..Interestingly, EDI-8t showed higher activity than endostatin to inhibit tumor growth in metastatic model of melanoma mice. ..
- Yoeruek E, Bayyoud T, Maurus C, Hofmann J, Spitzer M, Bartz Schmidt K, et al. Decellularization of porcine corneas and repopulation with human corneal cells for tissue-engineered xenografts. Acta Ophthalmol. 2012;90:e125-31 pubmed publisher..Decellularized porcine corneas might serve as a potential scaffold for tissue engineering of the cornea, possibly providing xenogenic substrate for corneal transplantation. ..
- Kelliher C, Chakravarti S, Vij N, Mazur S, Stahl P, Engler C, et al. A cellular model for the investigation of Fuchs' endothelial corneal dystrophy. Exp Eye Res. 2011;93:880-8 pubmed publisher..Different collagen VIII mutations may act via distinct biochemical mechanisms to produce the FECD phenotype. ..