Basement Membranes

Biology of Extracellular Matrix

Volumn Part F2615, Issue , 2011, Pages 117-145

  Miner, Jeffrey H ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Alport Syndrome; Basement Membrane; Basement Membrane Protein; Congenital Muscular Dystrophy; Congenital Nephrotic Syndrome

Indexed keywords

EID: 85194352894     PISSN: 08873224     EISSN: 21911959     Source Type: Book Series    
DOI: 10.1007/978-3-642-16555-9_4     Document Type: Chapter

References (99)

1. Abair TD, Sundaramoorthy M, Chen D, Heino J, Ivaska J, Hudson BG, Sanders CR, Pozzi A, Zent R (2008) Cross-talk between integrins alpha1beta1 and alpha2beta1 in renal epithelial cells. Exp Cell Res 314:3593–3604
2. Ackley BD, Kang SH, Crew JR, Suh C, Jin Y, Kramer JM (2003) The basement membrane components nidogen and type XVIII collagen regulate organization of neuromuscular junctions in Caenorhabditis elegans. J Neurosci 23:3577–3587
3. Arikawa-Hirasawa E, Watanabe H, Takami H, Hassell JR, Yamada Y (1999) Perlecan is essential for cartilage and cephalic development. Nat Genet 23:354–358
4. Arikawa-Hirasawa E, Rossi SG, Rotundo RL, Yamada Y (2002) Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. Nat Neurosci 5:119–123
5. Aumailley M, Bruckner-Tuderman L, Carter WG, Deutzmann R, Edgar D, Ekblom P, Engel J, Engvall E, Hohenester E, Jones JC, Kleinman HK, Marinkovich MP, Martin GR, Mayer U, Meneguzzi G, Miner JH, Miyazaki K, Patarroyo M, Paulsson M, Quaranta V, Sanes JR, Sasaki T, Sekiguchi K, Sorokin LM, Talts JF, Tryggvason K, Uitto J, Virtanen I, von der Mark K, Wewer UM, Yamada Y, Yurchenco PD (2005) A simplified laminin nomenclature. Matrix Biol 24:326–332
6. Bader BL, Smyth N, Nedbal S, Miosge N, Baranowsky A, Mokkapati S, Murshed M, Nischt R (2005) Compound genetic ablation of nidogen 1 and 2 causes basement membrane defects and perinatal lethality in mice. Mol Cell Biol 25:6846–6856
7. Bentzinger CF, Barzaghi P, Lin S, Ruegg MA (2005) Overexpression of mini-agrin in skeletal muscle increases muscle integrity and regenerative capacity in laminin-alpha2-deficient mice. FASEB J 19:934–942
8. Bix G, Iozzo RV (2005) Matrix revolutions: “tails” of basement-membrane components with angiostatic functions. Trends Cell Biol 15:52–60
9. Carlin B, Jaffe R, Bender B, Chung AE (1981) Entactin, a novel basal lamina-associated sulfated glycoprotein. J Biol Chem 256:5209–5214
10. Champliaud MF, Lunstrum GP, Rousselle P, Nishiyama T, Keene DR, Burgeson RE (1996) Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment. J Cell Biol 132:1189–1198
11. Chan FL, Inoue S (1994) Lamina lucida of basement membrane: an artefact. Microsc Res Tech 28:48–59
12. Chan FL, Inoue S, Leblond CP (1993) The basement membranes of cryofixed or aldehyde-fixed, freeze-substituted tissues are composed of a lamina densa and do not contain a lamina lucida. Cell Tissue Res 273:41–52
13. Chu ML, Tsuda T (2004) Fibulins in development and heritable disease. Birth Defects Res C Embryo Today 72:25–36
14. Cohn RD, Campbell KP (2000) Molecular basis of muscular dystrophies. Muscle Nerve 23:1456–1471
15. Cohn RD, Henry MD, Michele DE, Barresi R, Saito F, Moore SA, Flanagan JD, Skwarchuk MW, Robbins ME, Mendell JR, Williamson RA, Campbell KP (2002) Disruption of Dag1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell 110:639–648
16. Colin Y, Rahuel C, Wautier MP, El Nemer W, Filipe A, Cartron JP, Le Van KC, Wautier JL (2008) Red cell and endothelial Lu/BCAM beyond sickle cell disease. Transfus Clin Biol 15:402–405
17. Costell M, Gustafsson E, Aszodi A, Morgelin M, Bloch W, Hunziker E, Addicks K, Timpl R, Fassler R (1999) Perlecan maintains the integrity of cartilage and some basement membranes. J Cell Biol 147:1109–1122
18. Davies KE, Nowak KJ (2006) Molecular mechanisms of muscular dystrophies: old and new players. Nat Rev Mol Cell Biol 7:762–773
19. Edwards MM, Mammadova-Bach E, Alpy F, Klein A, Hicks WL, Roux MJ, Simon-Assmann P, Smith RS, Orend G, Wu J, Peachey NS, Naggert JK, Lefebvre O, Nishina PM (2010) Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. J Biol Chem 285:7697–7711
20. Fox JW, Mayer U, Nischt R, Aumailley M, Reinhardt D, Wiedemann H, Mann K, Timpl R, Krieg T, Engel J et al (1991) Recombinant nidogen consists of three globular domains and mediates binding of laminin to collagen type IV. EMBO J 10:3137–3146
21. Fox MA, Ho MS, Smyth N, Sanes JR (2008) A synaptic nidogen: developmental regulation and role of nidogen-2 at the neuromuscular junction. Neural Dev 3:24
22. Fukai N, Eklund L, Marneros AG, Oh SP, Keene DR, Tamarkin L, Niemela M, Ilves M, Li E, Pihlajaniemi T, Olsen BR (2002) Lack of collagen XVIII/endostatin results in eye abnormalities. EMBO J 21:1535–1544
23. Fukunaga-Kalabis M, Martinez G, Liu ZJ, Kalabis J, Mrass P, Weninger W, Firth SM, Planque N, Perbal B, Herlyn M (2006) CCN3 controls 3D spatial localization of melanocytes in the human skin through DDR1. J Cell Biol 175:563–569
24. Gautam M, Noakes PG, Moscoso L, Rupp F, Scheller RH, Merlie JP, Sanes JR (1996) Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell 85:525–535
25. Gawlik K, Miyagoe-Suzuki Y, Ekblom P, Takeda S, Durbeej M (2004) Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice. Hum Mol Genet 13: 1775–1784
26. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308:1167–1171
27. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489–1496
28. Halfter W, Dong S, Schurer B, Cole GJ (1998) Collagen XVIII is a basement membrane heparan sulfate proteoglycan. J Biol Chem 273:25404–25412
29. Hamill KJ, Langbein L, Jones JC, McLean WH (2009) Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization. J Biol Chem 284:35588–35596
30. Harvey SJ, Jarad G, Cunningham J, Rops AL, van der Vlag J, Berden JH, Moeller MJ, Holzman LB, Burgess RW, Miner JH (2007) Disruption of glomerular basement membrane charge through podocyte-specific mutation of agrin does not alter glomerular permselectivity. Am J Pathol 171:139–152
31. Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nurnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Broking E, Griebel M, Schumacher V, RoyerPokora B, Bakkaloglu A, Nurnberg P, Zenker M, Hildebrandt F (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 70:1008–1012
32. Henry MD, Campbell KP (1999) Dystroglycan inside and out. Curr Opin Cell Biol 11:602–607
33. Hewitt JE (2009) Abnormal glycosylation of dystroglycan in human genetic disease. Biochim Biophys Acta 1792:853–861
34. Hudson BG (2004) The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol 15:2514–2527
35. Hynes R (1999) Fibronectins. In: Kreis T, Vale R (eds) Guidebook to the extracellular matrix, anchor, and adhesion Proteins. Oxford University Press, New York, pp 422–425
36. Hynes RO (2002) Integrins: bidirectional, allosteric signaling machines. Cell 110:673–687
37. Ido H, Nakamura A, Kobayashi R, Ito S, Li S, Futaki S, Sekiguchi K (2007) The requirement of the glutamic acid residue at the third position from the carboxyl termini of the laminin gamma chains in integrin binding by laminins. J Biol Chem 282:11144–11154
38. Ido H, Ito S, Taniguchi Y, Hayashi M, Sato-Nishiuchi R, Sanzen N, Hayashi Y, Futaki S, Sekiguchi K (2008) Laminin isoforms containing the gamma3 chain are unable to bind to integrins due to the absence of the glutamic acid residue conserved in the C-terminal regions of the gamma1 and gamma2 chains. J Biol Chem 283:28149–28157
39. Iozzo RV (2001) Heparan sulfate proteoglycans: intricate molecules with intriguing functions. J Clin Investig 108:165–167
40. Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN (2001) The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 38:649–657
41. Kalluri R (2003) Basement membranes: structure, assembly and role in tumour angiogenesis. Nat Rev Cancer 3:422–433
42. Kammerer RA, Schulthess T, Landwehr R, Schumacher B, Lustig A, Yurchenco PD, Ruegg MA, Engel J, Denzer AJ (1999) Interaction of agrin with laminin requires a coiled-coil conformation of the agrin-binding site within the laminin gamma1 chain. EMBO J 18:6762–6770
43. Kashtan CE (2004) Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr 16:177–181
44. Kashtan CE, Michael AF (1993) Alport syndrome: from bedside to genome to bedside. Am J Kidney Dis 22:627–640
45. Khoshnoodi J, Cartailler JP, Alvares K, Veis A, Hudson BG (2006) Molecular recognition in the assembly of collagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers. J Biol Chem 281:38117–38121
46. Khoshnoodi J, Pedchenko V, Hudson BG (2008) Mammalian collagen IV. Microsc Res Tech 71:357–370
47. Kikkawa Y, Miner JH (2005) Review: Lutheran/B-CAM: a laminin receptor on red blood cells and in various tissues. Connect Tissue Res 46:193–199
48. Kim S, Wadsworth WG (2000) Positioning of longitudinal nerves in C. elegans by nidogen. Science 288:150–154
49. Kostka G, Giltay R, Bloch W, Addicks K, Timpl R, Fassler R, Chu ML (2001) Perinatal lethality and endothelial cell abnormalities in several vessel compartments of fibulin-1-deficient mice. Mol Cell Biol 21:7025–7034
50. Kummer TT, Misgeld T, Sanes JR (2006) Assembly of the postsynaptic membrane at the neuromuscular junction: paradigm lost. Curr Opin Neurobiol 16:74–82
51. Li S, Liquari P, McKee KK, Harrison D, Patel R, Lee S, Yurchenco PD (2005) Laminin-sulfatide binding initiates basement membrane assembly and enables receptor signaling in Schwann cells and fibroblasts. J Cell Biol 169:179–189
52. Libby RT, Champliaud MF, Claudepierre T, Xu Y, Gibbons EP, Koch M, Burgeson RE, Hunter DD, Brunken WJ (2000) Laminin expression in adult and developing retinae: evidence of two novel CNS laminins. J Neurosci 20:6517–6528
53. Litjens SH, de Pereda JM, Sonnenberg A (2006) Current insights into the formation and breakdown of hemidesmosomes. Trends Cell Biol 16:376–383
54. Mankelow TJ, Burton N, Stefansdottir FO, Spring FA, Parsons SF, Pedersen JS, Oliveira CL, Lammie D, Wess T, Mohandas N, Chasis JA, Brady RL, Anstee DJ (2007) The Laminin 511/ 521-binding site on the Lutheran blood group glycoprotein is located at the flexible junction of Ig domains 2 and 3. Blood 110:3398–3406
55. Mao Y, Schwarzbauer JE (2005) Fibronectin fibrillogenesis, a cell-mediated matrix assembly process. Matrix Biol 24:389–399
56. Marneros AG, Olsen BR (2005) Physiological role of collagen XVIII and endostatin. FASEB J 19:716–728
57. McKee KK, Harrison D, Capizzi S, Yurchenco PD (2007) Role of laminin terminal globular domains in basement membrane assembly. J Biol Chem 282:21437–21447
58. Meinen S, Ruegg MA (2006) Congenital muscular dystrophy: mini-agrin delivers in mice. Gene Ther 13:869–870
59. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP (2002) Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies. Nature 418: 417–422
60. Miner JH, Patton BL (1999) Laminin-11. Int J Biochem Cell Biol 31:811–816
61. Miner JH, Yurchenco PD (2004) Laminin functions in tissue morphogenesis. Annu Rev Cell Dev Biol 20:255–284
62. Miner JH, Patton BL, Lentz SI, Gilbert DJ, Snider WD, Jenkins NA, Copeland NG, Sanes JR (1997) The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1–5, identification of heterotrimeric laminins 8–11, and cloning of a novel alpha3 isoform. J Cell Biol 137:685–701
63. Miner JH, Li C, Mudd JL, Go G, Sutherland AE (2004) Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation. Development 131:2247–2256
64. Miranti CK, Brugge JS (2002) Sensing the environment: a historical perspective on integrin signal transduction. Nat Cell Biol 4:E83–E90
65. Nishiuchi R, Takagi J, Hayashi M, Ido H, Yagi Y, Sanzen N, Tsuji T, Yamada M, Sekiguchi K (2006) Ligand-binding specificities of laminin-binding integrins: a comprehensive survey of laminin–integrin interactions using recombinant alpha3beta1, alpha6beta1, alpha7beta1 and alpha6beta4 integrins. Matrix Biol 25:189–197
66. Noakes PG, Gautam M, Mudd J, Sanes JR, Merlie JP (1995a) Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin b2. Nature 374:258–262
67. Noakes PG, Miner JH, Gautam M, Cunningham JM, Sanes JR, Merlie JP (1995b) The renal glomerulus of mice lacking s-laminin/laminin b2: nephrosis despite molecular compensation by laminin b1. Nat Genet 10:400–406
68. Patton BL (2000) Laminins of the neuromuscular system. Microsc Res Tech 51:247–261
69. Pinzon-Duarte GA, Daly GH, Li YN, Koch M, Brunken WJ (2010) Defective formation of the inner limiting membrane in the laminin {beta}2 and {gamma}3 null retina results in retinal dysplasia. Invest Ophthalmol Vis Sci. 51:1773–1782
70. Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P (2007) COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 357:2687–2695
71. Poschl E, Schlotzer-Schrehardt U, Brachvogel B, Saito K, Ninomiya Y, Mayer U (2004) Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development. Development 131:1619–1628
72. Pulkkinen L, Uitto J (1999) Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol 18:29–42
73. Rahuel C, Filipe A, Ritie L, El Nemer W, Patey-Mariaud N, Eladari D, Cartron JP, Simon Assmann P, Le Van KC, Colin Y (2008) Genetic inactivation of the laminin {alpha}5 chain receptor Lu/BCAM leads to kidney and intestinal abnormalities in the mouse. Am J Physiol Renal Physiol 294:F393–406
74. Rebustini IT, Patel VN, Stewart JS, Layvey A, Georges-Labouesse E, Miner JH, Hoffman MP (2007) Laminin alpha5 is necessary for submandibular gland epithelial morphogenesis and influences FGFR expression through beta1 integrin signaling. Dev Biol 308:15–29
75. Rossi M, Morita H, Sormunen R, Airenne S, Kreivi M, Wang L, Fukai N, Olsen BR, Tryggvason K, Soininen R (2003) Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney. EMBO J 22:236–245
76. Sakai T, Larsen M, Yamada KM (2003) Fibronectin requirement in branching morphogenesis. Nature 423:876–881
77. Sanes JR, Apel ED, Gautam M, Glass D, Grady RM, Martin PT, Nichol MC, Yancopoulos GD (1998) Agrin receptors at the skeletal neuromuscular junction. Ann NY Acad Sci 841:1–13
78. Sicot FX, Tsuda T, Markova D, Klement JF, Arita M, Zhang RZ, Pan TC, Mecham RP, Birk DE, Chu ML (2008) Fibulin-2 is dispensable for mouse development and elastic fiber formation. Mol Cell Biol 28:1061–1067
79. Smyth N, Vatansever HS, Murray P, Meyer M, Frie C, Paulsson M, Edgar D (1999) Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. J Cell Biol 144:151–160
80. Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz Laguna A, Rene F, Marcel C, Molgo J, Fontaine B, Krejci E, Nicole S (2008) Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia. Hum Mol Genet 17: 3166–3179
81. Taniguchi Y, Ido H, Sanzen N, Hayashi M, Sato-Nishiuchi R, Futaki S, Sekiguchi K (2009) The C terminal region of laminin beta chains modulates the integrin binding affinities of laminins. J Biol Chem 284:7820–7831
82. Thorner PS (2007) Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract 106:c82–88
83. Timpl R (1989) Structure and biological activity of basement membrane proteins. Eur J Biochem 180:487–502
84. Timpl R (1996) Macromolecular organization of basement membranes. Curr Opin Cell Biol 8:618–624
85. Timpl R, Brown JC (1994) The laminins. Matrix Biol 14:275–281
86. Tzu J, Marinkovich MP (2008) Bridging structure with function: structural, regulatory, and developmental role of laminins. Int J Biochem Cell Biol 40:199–214
87. Van Agtmael T, Bruckner-Tuderman L (2010) Basement membranes and human disease. Cell Tissue Res 339:167–188
88. Van Agtmael T, Schlotzer-Schrehardt U, McKie L, Brownstein DG, Lee AW, Cross SH, Sado Y, Mullins JJ, Poschl E, Jackson IJ (2005) Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum Mol Genet 14:3161–3168
89. Vanacore RM, Ham AJ, Cartailler JP, Sundaramoorthy M, Todd P, Pedchenko V, Sado Y, Borza DB, Hudson BG (2008) A role for collagen IV cross-links in conferring immune privilege to the Goodpasture autoantigen: structural basis for the crypticity of B cell epitopes. J Biol Chem 283:22737–22748
90. Vanacore R, Ham AJ, Voehler M, Sanders CR, Conrads TP, Veenstra TD, Sharpless KB, Dawson PE, Hudson BG (2009) A sulfilimine bond identified in collagen IV. Science 325:1230–1234
91. Vogel W (1999) Discoidin domain receptors: structural relations and functional implications. FASEB J 13(Suppl):S77–S82
92. Vogel WF, Aszodi A, Alves F, Pawson T (2001) Discoidin domain receptor 1 tyrosine kinase has an essential role in mammary gland development. Mol Cell Biol 21:2906–2917
93. Wang X, Harris RE, Bayston LJ, Ashe HL (2008) Type IV collagens regulate BMP signalling in Drosophila. Nature 455:72–77
94. Williamson RA, Henry MD, Daniels KJ, Hrstka RF, Lee JC, Sunada Y, Ibraghimov-Beskrovnaya O, Campbell KP (1997) Dystroglycan is essential for early embryonic development: disruption of Reichert’s membrane in Dag1-null mice. Hum Mol Genet 6:831–841
95. Yoshida-Moriguchi T, Yu L, Stalnaker SH, Davis S, Kunz S, Madson M, Oldstone MB, Schachter H, Wells L, Campbell KP (2010) O-Mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science 327:88–92
96. Yurchenco PD, Patton BL (2009) Developmental and pathogenic mechanisms of basement membrane assembly. Curr Pharm Des 15:1277–1294
97. Yurchenco PD, Wadsworth WG (2004) Assembly and tissue functions of early embryonic laminins and netrins. Curr Opin Cell Biol 16:572–579
98. Yurchenco PD, Amenta PS, Patton BL (2004) Basement membrane assembly, stability and activities observed through a developmental lens. Matrix Biol 22:521–538
99. 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 LM, Reis A (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625–2632