Genomes and Genes
collagen type v
Summary: A fibrillar collagen found widely distributed as a minor component in tissues that contain COLLAGEN TYPE I and COLLAGEN TYPE III. It is a heterotrimeric molecule composed of alpha1(V), alpha2(V) and alpha3(V) subunits. Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer.
- Lu P, Zhang G, Song X, Zou X, Wang L, Ouyang H. Col V siRNA engineered tenocytes for tendon tissue engineering. PLoS ONE. 2011;6:e21154 pubmed publisher..And an optimal level of collagen V is vital in regulating collagen fibrillogenesis. This may provide a basis for future development of novel cellular- and molecular biology-based therapeutics for tendon diseases. ..
- Yamada Y, Sekine Y, Yoshida S, Yasufuku K, Petrache I, Benson H, et al. Type V collagen-induced oral tolerance plus low-dose cyclosporine prevents rejection of MHC class I and II incompatible lung allografts. J Immunol. 2009;183:237-45 pubmed publisher..These data demonstrate that col(V) enhances low-dose CsA-mediated immune suppression, and suggest a role for oral col(V) in immune modulation in lung transplantation. ..
- Symoens S, Malfait F, Vlummens P, Hermanns Le T, Syx D, De Paepe A. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. PLoS ONE. 2011;6:e20121 pubmed publisher..Our findings add further insights into the COL5A1 splicing order and show for the first time that a single COL5A1 acceptor-splice site mutation can perturb splicing of the upstream exon. ..
- Wenstrup R, Florer J, Cole W, Willing M, Birk D. Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. J Cell Biochem. 2004;92:113-24 pubmed..These data indicate that in cell culture, the quantity of collagen fibrils deposited in matrix is highly sensitive to reduction in type V collagen, far out of proportion to type V collagen's contribution to collagen mass. ..
- Symoens S, Malfait F, Renard M, Andre J, Hausser I, Loeys B, et al. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Hum Mutat. 2009;30:E395-403 pubmed publisher..Our findings further support the observation that decreased availability of type V (pro)collagen is a key factor and a shared mechanism in the pathogenesis of classic EDS. ..
- Mizobuchi T, Yasufuku K, Zheng Y, Haque M, Heidler K, Woods K, et al. Differential expression of Smad7 transcripts identifies the CD4+CD45RChigh regulatory T cells that mediate type V collagen-induced tolerance to lung allografts. J Immunol. 2003;171:1140-7 pubmed..Collectively, these data show that the Tregs that mediate col(V)-induced tolerance to lung allografts do not express SMAD7 and, therefore, are permissive to TGF-beta-mediated signaling. ..
- Parra E, Teodoro W, Velosa A, de Oliveira C, Yoshinari N, Capelozzi V. Interstitial and vascular type V collagen morphologic disorganization in usual interstitial pneumonia. J Histochem Cytochem. 2006;54:1315-25 pubmed..We concluded that in the different temporal stages of UIP, vascular/parenchyma collagen type V is increased, in disarray, and is the most important predictor of survival.
- Bezerra M, Teodoro W, de Oliveira C, Velosa A, Ogido L, Gauditano G, et al. Scleroderma-like remodeling induced by type V collagen. Arch Dermatol Res. 2006;298:51-7 pubmed..We suggest that this anomalous expression of morphologically different type V collagen could justify the remodeling observed in scleroderma plaque. ..
- Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012;33:1485-93 pubmed publisher..Overall, over 90% of patients fulfilling all major Villefranche criteria for classic EDS were shown to harbor a type V collagen defect, which indicates that this is the major--if not only--cause of classic EDS. ..
- Bonod Bidaud C, Beraud M, Vaganay E, Delacoux F, Font B, Hulmes D, et al. Enzymatic cleavage specificity of the proalpha1(V) chain processing analysed by site-directed mutagenesis. Biochem J. 2007;405:299-306 pubmed..Altogether, our results provide new relevant information on this complex and poorly understood mechanism of enzymatic processing in procollagen V function. ..
- Wilkes D. The role of autoimmunity in the pathogenesis of lung allograft rejection. Arch Immunol Ther Exp (Warsz). 2003;51:227-30 pubmed
- Burlingham W, Love R, Jankowska Gan E, Haynes L, Xu Q, Bobadilla J, et al. IL-17-dependent cellular immunity to collagen type V predisposes to obliterative bronchiolitis in human lung transplants. J Clin Invest. 2007;117:3498-506 pubmed..We tested the role of cell-mediated immunity to collagen type V [col(V)] in this process...
- Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A. 2010;152A:2090-3 pubmed publisher..This finding has potential implications for genetic counseling and molecular genetic testing in Ehlers-Danlos syndrome. ..
- Sumpter T, Wilkes D. Role of autoimmunity in organ allograft rejection: a focus on immunity to type V collagen in the pathogenesis of lung transplant rejection. Am J Physiol Lung Cell Mol Physiol. 2004;286:L1129-39 pubmed..The role of col(V) in lung transplant rejection is described in this review article. In addition, the potential role of regulatory T cells that are crucial to modulating autoimmunity and alloimmunity is also discussed. ..
- Yoshida S, Haque A, Mizobuchi T, Iwata T, Chiyo M, Webb T, et al. Anti-type V collagen lymphocytes that express IL-17 and IL-23 induce rejection pathology in fresh and well-healed lung transplants. Am J Transplant. 2006;6:724-35 pubmed..Finally, because of similar histologic patterns, the pathology of clinical rejection may reflect the activity of autoimmunity to col(V) and/or alloimmunity. ..
- Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 2005;25:28-37 pubmed..We excluded the COL1A1, COL1A2, and DCN gene as major candidate genes for classic EDS, since no causal mutation in these genes was found in a number of patients who tested negative for COL5A1 and COL5A2. ..
- Bobadilla J, Jankowska Gan E, Xu Q, Haynes L, Munoz del Rio A, Meyer K, et al. Reflux-induced collagen type v sensitization: potential mediator of bronchiolitis obliterans syndrome. Chest. 2010;138:363-70 pubmed publisher..Gastroesophageal reflux disease (GERD) has been implicated in BOS pathogenesis. We investigated the role of collagen type V [col(V)] sensitization in this process. Only primary lung transplant recipients were included...
- Chanut Delalande H, Bonod Bidaud C, Cogne S, Malbouyres M, Ramirez F, Fichard A, et al. Development of a functional skin matrix requires deposition of collagen V heterotrimers. Mol Cell Biol. 2004;24:6049-57 pubmed
- Wenstrup R, Florer J, Brunskill E, Bell S, Chervoneva I, Birk D. Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem. 2004;279:53331-7 pubmed..In non-cartilaginous tissues, type I collagen accounts for the majority of the collagen mass, and collagen type V, the functions of which are poorly understood, is a minor component...
- Dart M, Jankowska Gan E, Huang G, Roenneburg D, Keller M, Torrealba J, et al. Interleukin-17-dependent autoimmunity to collagen type V in atherosclerosis. Circ Res. 2010;107:1106-16 pubmed publisher..We recently identified the collagen type V [col(V)] ?1(V) chain as a key autoantigen driving the Th17-dependent cellular immunity underlying another ..
- Mitchell A, Schwarze U, Jennings J, Byers P. Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS). Hum Mutat. 2009;30:995-1002 pubmed publisher..The same type of genomic change at splice sites can have different effects at the RNA level and the outcome could not be predicted from the primary genomic DNA alteration. ..
- Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M. Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin. J Biol Chem. 2004;279:18157-68 pubmed
- Teodoro W, Miron B, Tsuzuki L, Ogido I, Velosa A, Abatepaulo F, et al. Synovial remodeling process induced by type V collagen immunization in rabbits. Pathol Res Pract. 2003;199:605-12 pubmed..Therefore, this model could be useful in understanding the pathogenesis and the treatment of these diseases. ..
- Luparello C, Sirchia R. Type V collagen regulates the expression of apoptotic and stress response genes by breast cancer cells. J Cell Physiol. 2005;202:411-21 pubmed..Our data validate 8701-BC cell line as a suitable "in vitro" model for further and more detailed studies on the molecular mechanisms of the death response induced by type V collagen on primary DIC cells. ..
- Teodoro W, Velosa A, Witzel S, Garippo A, Farhat C, Parra E, et al. Architectural remodelling in lungs of rabbits induced by type V collagen immunization: a preliminary morphologic model to study diffuse connective tissue diseases. Pathol Res Pract. 2004;200:681-91 pubmed..We conclude that the model reproduces morphologic changes similar to those observed in many DCTD, encouraging realization of other experiments to gain a better understanding of the pathogenesis of these diseases. ..
- Satomi E, Teodoro W, Parra E, Fernandes T, Velosa A, Capelozzi V, et al. Changes in histoanatomical distribution of types I, III and V collagen promote adaptative remodeling in posterior tibial tendon rupture. Clinics (Sao Paulo). 2008;63:9-14 pubmed..Posterior tibial tendon dysfunction is a common cause of adult flat foot deformity, and its etiology is unknown...
- Ogido L, Teodoro W, Velosa A, de Oliveira C, Parra E, Capelozzi V, et al. Abnormal collagen deposition in synovia after collagen type V immunization in rabbits. Histol Histopathol. 2008;23:263-9 pubmed publisher..To validate the importance of collagen type V and to explore the quantitative relationship between this factor and synovia remodeling as well as the ..
- Roulet M, Ruggiero F, Karsenty G, LeGuellec D. A comprehensive study of the spatial and temporal expression of the col5a1 gene in mouse embryos: a clue for understanding collagen V function in developing connective tissues. Cell Tissue Res. 2007;327:323-32 pubmed..The results underscore the role of collagen V in developing embryos and provide important clues for analyzing the phenotype of mouse models for EDS. ..
- Segev F, Heon E, Cole W, Wenstrup R, Young F, Slomovic A, et al. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci. 2006;47:565-73 pubmed
- Nakajima I, Muroya S, Tanabe R, Chikuni K. Positive effect of collagen V and VI on triglyceride accumulation during differentiation in cultures of bovine intramuscular adipocytes. Differentiation. 2002;70:84-91 pubmed..However, these findings also indicate that collagen newly synthesized and organized by the adipocyte itself during differentiation is still necessary for the growth of adipose tissue. ..
- Unsöld C, Pappano W, Imamura Y, Steiglitz B, Greenspan D. Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases. J Biol Chem. 2002;277:5596-602 pubmedThe low abundance fibrillar collagen type V is incorporated into and regulates the diameters of type I collagen fibrils...
- Shimomura T, Jia F, Niyibizi C, Woo S. Antisense oligonucleotides reduce synthesis of procollagen alpha1 (V) chain in human patellar tendon fibroblasts: potential application in healing ligaments and tendons. Connect Tissue Res. 2003;44:167-72 pubmed
- Iwata T, Philipovskiy A, Fisher A, Presson R, Chiyo M, Lee J, et al. Anti-type V collagen humoral immunity in lung transplant primary graft dysfunction. J Immunol. 2008;181:5738-47 pubmed..This study demonstrates a major role for anti-col(V) humoral immunity in PGD, and identifies the airway epithelium as a target in PGD. ..
- Lincoln J, Florer J, Deutsch G, Wenstrup R, Yutzey K. ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development. Dev Dyn. 2006;235:3295-305 pubmed
- Malfait F, Wenstrup R, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010;12:597-605 pubmed publisher..No treatment for the underlying defect is presently available for Ehlers-Danlos syndrome. However, a series of preventive guidelines are applicable. ..
- Vargas A, McCart Reed A, Waddell N, Lane A, Reid L, Smart C, et al. Gene expression profiling of tumour epithelial and stromal compartments during breast cancer progression. Breast Cancer Res Treat. 2012;135:153-65 pubmed publisher..We propose that these expression changes could be involved in facilitating the transition from in situ disease to invasive cancer and may thus mark a critical point in disease development. ..
- Takahara K, Schwarze U, Imamura Y, Hoffman G, Toriello H, Smith L, et al. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet. 2002;71:451-65 pubmed..These findings suggest that the order of intron removal plays an important role in the outcome of splice-site mutations and provide a model that explains why multiple products derive from a mutation at a single splice site. ..
- Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, et al. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur J Hum Genet. 2010;18:1315-21 pubmed publisher..Our data not only emphasize the impact/role of COL3A1 in AD patients but also extend the molecular etiology of several disorders by providing hitherto unreported evidence for true haploinsufficiency of the underlying gene. ..
- Velosa A, Teodoro W, de Oliveira C, Dos Santos Filho A, Moutinho R, Santos A, et al. Collagen V nasal tolerance in experimental model of systemic sclerosis. Arch Dermatol Res. 2007;299:177-89 pubmed..Collagen V nasal tolerance promotes regression of skin remodeling process in an experimental model of SSc. We suggest that nasal tolerance with type V collagen can be a promising therapeutic option to treat scleroderma patients. ..
- Abrahams S, Posthumus M, Collins M. A polymorphism in a functional region of the COL5A1 gene: association with ultraendurance-running performance and joint range of motion. Int J Sports Physiol Perform. 2014;9:583-90 pubmed publisher..These findings provide further evidence for a relationship between COL5A1, running performance, and SR ROM. Further studies are needed to investigate the effect of this variant on the mechanical properties of connective tissue. ..
- Grünheid T, Zentner A. Extracellular matrix synthesis, proliferation and death in mechanically stimulated human gingival fibroblasts in vitro. Clin Oral Investig. 2005;9:124-30 pubmed..The results indicate a pronounced interindividual variation in reactions of gingival fibroblasts to mechanical stimulation. ..
- Corbetta S, Bairati A, Vitellaro Zuccarello L. Immunohistochemical study of subepidermal connective of molluscan integument. Eur J Histochem. 2002;46:259-72 pubmed
- Vittal R, Fan L, Greenspan D, Mickler E, Gopalakrishnan B, Gu H, et al. IL-17 induces type V collagen overexpression and EMT via TGF-?-dependent pathways in obliterative bronchiolitis. Am J Physiol Lung Cell Mol Physiol. 2013;304:L401-14 pubmed publisher..Our findings highlight a feed-forward loop between IL-17 and TGF-?, leading to induction of col(V) and associated epithelial repair, thus providing one possible link between autoimmunity and OB after lung transplantation. ..
- Henriksen N, Mortensen J, Lorentzen L, AGren M, Bay Jensen A, Jorgensen L, et al. Abdominal wall hernias-A local manifestation of systemically impaired quality of the extracellular matrix. Surgery. 2016;160:220-227 pubmed publisher..Biomarkers for type V collagen turnover may be used to identify patients at risk for or with multiple hernias. ..
- Luparello C, David F, Campisi G, Sirchia R. T47-D cells and type V collagen: a model for the study of apoptotic gene expression by breast cancer cells. Biol Chem. 2003;384:965-75 pubmed..Our data validate the T47-D line as a suitable in vitro model for further and more detailed studies on the molecular mechanisms of the death response induced by type V collagen on mammary tumor cells. ..
- Bharat A, Saini D, Steward N, Hachem R, Trulock E, Patterson G, et al. Antibodies to self-antigens predispose to primary lung allograft dysfunction and chronic rejection. Ann Thorac Surg. 2010;90:1094-101 pubmed publisher..Antibodies to self-antigens k-alpha-1 tubulin, collagen type V, and collagen I were quantitated using standardized enzyme-linked immunosorbent assays, and cytokines were ..
- Delahunt B, Bethwaite P, McCredie M, Nacey J. The evolution of collagen expression in sarcomatoid renal cell carcinoma. Hum Pathol. 2007;38:1372-7 pubmed..In sarcomatoid renal cell carcinoma, there was diffuse pericellular expression of collagen type V and patchy pericellular expression of collagen type VI, whereas early spindle cell change tumors showed ..
- Iwahashi M, Muragaki Y, Ooshima A, Umesaki N. Increased type III and V collagen expression in human corpora lutea in early pregnancy. Fertil Steril. 2007;87:178-81 pubmed..These results suggest that alterations in composition of collagen might play an important role in determining the physiology and structure of the CL during the menstrual cycle and early pregnancy. ..
- Ataç B, Wagner I, Horland R, Lauster R, Marx U, Tonevitsky A, et al. Skin and hair on-a-chip: in vitro skin models versus ex vivo tissue maintenance with dynamic perfusion. Lab Chip. 2013;13:3555-61 pubmed publisher..This leads to improvements of culture conditions for integrated in vitro skin models, ex vivo skin organ cultures and biopsies of single hair follicular units. ..
- Sato K, Ueda Y, Sakurai A, Ishikawa Y, Okamoto S, Ikawa H, et al. Large cell calcifying Sertoli cell tumor of the testis: comparative immunohistochemical study with Leydig cell tumor. Pathol Int. 2005;55:366-71 pubmed