Developmental distribution of collagen IV isoforms and relevance to ocular diseases

Matrix Biology

Volumn 28, Issue 4, 2009, Pages 194-201

  Bai, Xiaoyang ^a   Dilworth, David J ^a   Weng, Yi Chinn ^a   Gould, Douglas B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Basement membrane; Ocular development; Type IV collagen

Indexed keywords

COLLAGEN; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA1 CHAIN; COLLAGEN TYPE 4 ALPHA2 CHAIN; COLLAGEN TYPE 4 ALPHA3; COLLAGEN TYPE 4 ALPHA4; COLLAGEN TYPE 4 ALPHA5; COLLAGEN TYPE 4 ALPHA6; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; BASEMENT MEMBRANE; BRUCH MEMBRANE; EMBRYO; EYE DEVELOPMENT; EYE DISEASE; MOUSE; NONHUMAN; OCULAR BLOOD VESSEL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

ANIMALS; ANTIBODIES, MONOCLONAL; BASEMENT MEMBRANE; BIOPOLYMERS; COLLAGEN TYPE IV; EYE; EYE ABNORMALITIES; EYE DISEASES; EYE PROTEINS; GESTATIONAL AGE; HUMANS; MICE; MICE, INBRED C57BL; ORGAN SPECIFICITY; PROTEIN INTERACTION MAPPING; PROTEIN ISOFORMS; RATS; SPECIES SPECIFICITY;

MUS;

EID: 67349126182     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.matbio.2009.02.004     Document Type: Article

References (53)

1. Arnott E.J., Crawfurd M.D., and Toghill P.J. Anterior lenticonus and Alport's syndrome. Br. J. Ophthalmol. 50 7 (1966) 390-403
2. Barker D.F., Hostikka S.L., Zhou J., Chow L.T., Oliphant A.R., Gerken S.C., Gregory M.C., Skolnick M.H., Atkin C.L., and Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248 4960 (1990) 1224-1227
3. Borza D.B., Bondar O., Ninomiya Y., Sado Y., Naito I., Todd P., and Hudson B.G. The NC1 domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes. J. Biol. Chem. 276 30 (2001) 28532-28540
4. Borza D.B., Bondar O., Todd P., Sundaramoorthy M., Sado Y., Ninomiya Y., and Hudson B.G. Quaternary organization of the goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains. J. Biol. Chem. 277 42 (2002) 40075-40083
5. Breedveld G., de Coo I.F., Lequin M.H., Arts W.F., Heutink P., Gould D.B., John S.W., Oostra B., and Mancini G.M. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J. Med. Genet. 43 6 (2006) 490-495
6. Candiello J., Balasubramani M., Schreiber E.M., Cole G.J., Mayer U., Halfter W., and Lin H. Biomechanical properties of native basement membranes. FEBS J. 274 11 (2007) 2897-2908
7. Chen L., Miyamura N., Ninomiya Y., and Handa J.T. Distribution of the collagen IV isoforms in human Bruch's membrane. Br. J. Ophthalmol. 87 2 (2003) 212-215
8. Chugh K.S., Sakhuja V., Agarwal A., Jha V., Joshi K., Datta B.N., Gupta A., and Gupta K.L. Hereditary nephritis (Alport's syndrome)-clinical profile and inheritance in 28 kindreds. Nephrol. Dial. Transplant. 8 8 (1993) 690-695
9. Cochat P., Guibaud P., Garcia Torres R., Roussel B., Guarner V., and Larbre F. Diffuse leiomyomatosis in Alport syndrome. J. Pediatr. 113 2 (1988) 339-343
10. Colville D.J., and Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet. 18 4 (1997) 161-173
11. Colville D., Savige J., Branley P., and Wilson D. Ocular abnormalities in thin basement membrane disease. Br. J. Ophthalmol. 81 5 (1997) 373-377
12. Colville D., Savige J., Morfis M., Ellis J., Kerr P., Agar J., and Fasset R. Ocular manifestations of autosomal recessive Alport syndrome. Ophthalmic Genet. 18 3 (1997) 119-128
13. de Vries L.S., Koopman C., Groenendaal F., Van Schooneveld M., Verheijen F.W., Verbeek E., Witkamp T.D., van der Worp H.B., and Mancini G. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann. Neurol. 65 1 (2009) 12-18
14. Favor J., Gloeckner C.J., Janik D., Klempt M., Neuhauser-Klaus A., Pretsch W., Schmahl W., and Quintanilla-Fend L. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles. Genetics 175 2 (2007) 725-736
15. Gould D.B., Smith R.S., and John S.W. Anterior segment development relevant to glaucoma. Int. J. Dev. Biol. 48 8-9 (2004) 1015-1029
16. Gould D.B., Phalan F.C., Breedveld G.J., van Mil S.E., Smith R.S., Schimenti J.C., Aguglia U., van der Knaap M.S., Heutink P., and John S.W. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308 5725 (2005) 1167-1171
17. Gould D.B., Phalan F.C., van Mil S.E., Sundberg J.P., Vahedi K., Massin P., Bousser M.G., Heutink P., Miner J.H., Tournier-Lasserve E., and John S.W. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N. Engl. J. Med. 354 14 (2006) 1489-1496
18. Gould D.B., Marchant J.K., Savinova O.V., Smith R.S., and John S.W. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum. Mol. Genet. 16 7 (2007) 798-807
19. Gunwar S., Ballester F., Noelken M.E., Sado Y., Ninomiya Y., and Hudson B.G. Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome. J. Biol. Chem. 273 15 (1998) 8767-8775
20. Halfter W., Willem M., and Mayer U. Basement membrane-dependent survival of retinal ganglion cells. Invest. Ophthalmol. Vis. Sci. 46 3 (2005) 1000-1009
21. Hasegawa H., Naito I., Nakano K., Momota R., Nishida K., Taguchi T., Sado Y., Ninomiya Y., and Ohtsuka A. The distributions of type IV collagen alpha chains in basement membranes of human epidermis and skin appendages. Arch. Histol. Cytol. 70 4 (2007) 255-265
22. Heidet L., Cai Y., Sado Y., Ninomiya Y., Thorner P., Guicharnaud L., Boye E., Chauvet V., Solal L.C., Beziau A., Torres R.G., Antignac C., and Gubler M.C. Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization. Lab. Invest. 76 2 (1997) 233-243
23. Hostikka S.L., Eddy R.L., Byers M.G., Hoyhtya M., Shows T.B., and Tryggvason K. Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc. Natl. Acad. Sci. U. S. A. 87 4 (1990) 1606-1610
24. Hostikka S.L., and Tryggvason K. The complete primary structure of the alpha 2 chain of human type IV collagen and comparison with the alpha 1(IV) chain. J. Biol. Chem. 263 36 (1988) 19488-19493
25. Hudson B.G., Reeders S.T., and Tryggvason K. Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J. Biol. Chem. 268 35 (1993) 26033-26036
26. Jacobs M., Jeffrey B., Kriss A., Taylor D., Sa G., and Barratt T.M. Ophthalmologic assessment of young patients with Alport syndrome. Ophthalmology 99 7 (1992) 1039-1044
27. Kabosova A., Azar D.T., Bannikov G.A., Campbell K.P., Durbeej M., Ghohestani R.F., Jones J.C., Kenney M.C., Koch M., Ninomiya Y., Patton B.L., Paulsson M., Sado Y., Sage E.H., Sasaki T., Sorokin L.M., Steiner-Champliaud M.F., Sun T.T., Sundarraj N., Timpl R., Virtanen I., and Ljubimov A.V. Compositional differences between infant and adult human corneal basement membranes. Invest. Ophthalmol. Vis. Sci. 48 11 (2007) 4989-4999
28. Kaufmann M.H. The Atlas of Mouse Development (2005), Elsevier Academic Press, London, UK
29. Kelley P.B., Sado Y., and Duncan M.K. Collagen IV in the developing lens capsule. Matrix Biol. 21 5 (2002) 415-423
30. Kuhn K. Basement membrane (type IV) collagen. Matrix Biol. 14 6 (1995) 439-445
31. Leinonen A., Mariyama M., Mochizuki T., Tryggvason K., and Reeders S.T. Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains. J. Biol. Chem. 269 42 (1994) 26172-26177
32. Mariyama M., Leinonen A., Mochizuki T., Tryggvason K., and Reeders S.T. Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues. J. Biol. Chem. 269 37 (1994) 23013-23017
33. Nakano K., Naito I., Momota R., Sado Y., Hasegawa H., Ninomiya Y., and Ohtsuka A. The distribution of type IV collagen alpha chains in the mouse ovary and its correlation with follicular development. Arch. Histol. Cytol. 70 4 (2007) 243-253
34. Neptune E.R., Frischmeyer P.A., Arking D.E., Myers L., Bunton T.E., Gayraud B., Ramirez F., Sakai L.Y., and Dietz H.C. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33 3 (2003) 407-411
35. Ninomiya Y., Kagawa M., Iyama K., Naito I., Kishiro Y., Seyer J.M., Sugimoto M., Oohashi T., and Sado Y. Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies. J. Cell Biol. 130 5 (1995) 1219-1229
36. Plaisier E., Gribouval O., Alamowitch S., Mougenot B., Prost C., Verpont M.C., Marro B., Desmettre T., Cohen S.Y., Roullet E., Dracon M., Fardeau M., Van Agtmael T., Kerjaschki D., Antignac C., and Ronco P. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N. Engl. J. Med. 357 26 (2007) 2687-2695
37. Risteli J., Schuppan D., Glanville R.W., and Timpl R. Immunochemical distinction between two different chains of type IV collagen. Biochem. J. 191 2 (1980) 517-522
38. Sado Y., Kagawa M., Kishiro Y., Sugihara K., Naito I., Seyer J.M., Sugimoto M., Oohashi T., and Ninomiya Y. Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen. Histochem. Cell Biol. 104 4 (1995) 267-275
39. Saito K., Naito I., Seki T., Oohashi T., Kimura E., Momota R., Kishiro Y., Sado Y., Yoshioka H., and Ninomiya Y. Differential expression of mouse alpha5(IV) and alpha6(IV) collagen genes in epithelial basement membranes. J. Biochem. 128 3 (2000) 427-434
40. Schlotzer-Schrehardt U., Dietrich T., Saito K., Sorokin L., Sasaki T., Paulsson M., and Kruse F.E. Characterization of extracellular matrix components in the limbal epithelial stem cell compartment. Exp. Eye Res. 85 6 (2007) 845-860
41. Semina E.V., Bosenko D.V., Zinkevich N.C., Soules K.A., Hyde D.R., Vihtelic T.S., Willer G.B., Gregg R.G., and Link B.A. Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. Dev. Biol. 299 1 (2006) 63-77
42. Sibon I., Coupry I., Menegon P., Bouchet J.P., Gorry P., Burgelin I., Calvas P., Orignac I., Dousset V., Lacombe D., Orgogozo J.M., Arveiler B., and Goizet C. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann. Neurol. 62 2 (2007) 177-184
43. Soininen R., Haka-Risku T., Prockop D.J., and Tryggvason K. Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen. FEBS Lett. 225 1-2 (1987) 188-194
44. Streeten B.W., Robinson M.R., Wallace R., and Jones D.B. Lens capsule abnormalities in Alport's syndrome. Arch. Ophthalmol. 105 12 (1987) 1693-1697
45. Timpl R., Wiedemann H., van Delden V., Furthmayr H., and Kuhn K. A network model for the organization of type IV collagen molecules in basement membranes. Eur. J. Biochem. 120 2 (1981) 203-211
46. Urabe N., Naito I., Saito K., Yonezawa T., Sado Y., Yoshioka H., Kusachi S., Tsuji T., Ohtsuka A., Taguchi T., Murakami T., and Ninomiya Y. Basement membrane type IV collagen molecules in the choroid plexus, pia mater and capillaries in the mouse brain. Arch. Histol. Cytol. 65 2 (2002) 133-143
47. Vahedi K., Boukobza M., Massin P., Gould D.B., Tournier-Lasserve E., and Bousser M.G. Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology 69 16 (2007) 1564-1568
48. Vahedi K., Kubis N., Boukobza M., Arnoult M., Massin P., Tournier-Lasserve E., and Bousser M.G. COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke 38 5 (2007) 1461-1464
49. Van Agtmael T., Schlotzer-Schrehardt U., McKie L., Brownstein D.G., Lee A.W., Cross S.H., Sado Y., Mullins J.J., Poschl E., and Jackson I.J. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum. Mol. Genet. 14 21 (2005) 3161-3168
50. Wang X., Harris R.E., Bayston L.J., and Ashe H.L. Type IV collagens regulate BMP signalling in Drosophila. Nature 455 7209 (2008) 72-77
51. Zenker M., Aigner T., Wendler O., Tralau T., Muntefering H., Fenski R., Pitz S., Schumacher V., Royer-Pokora B., Wuhl E., Cochat P., Bouvier R., Kraus C., Mark K., Madlon H., Dotsch J., Rascher W., Maruniak-Chudek I., Lennert T., Neumann L.M., and Reis A. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum. Mol. Genet. 13 21 (2004) 2625-2632
52. Zenker M., Pierson M., Jonveaux P., and Reis A. Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. Am. J. Med. Genet. A. 138 1 (2005) 73-74
53. Zhou J., Ding M., Zhao Z., and Reeders S.T. Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains. J. Biol. Chem. 269 18 (1994) 13193-13199