Merosin/laminin-2 and muscular dystrophy

Neuromuscular Disorders

Volumn 6, Issue 6, 1996, Pages 409-418

  Wewer, Ulla M ^a   Engvall, Eva ^b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b BURNHAM INSTITUTE   (United States)

Author keywords

Basement membrane; Epidermolysis bullosa; Laminin; Muscular dystrophy

Indexed keywords

GLYCOPROTEIN; KALININ; LAMININ; MEROSIN;

ALPHA CHAIN; BASEMENT MEMBRANE; CELL ADHESION; EPIDERMOLYSIS BULLOSA; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; HUMAN; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN INTERACTION; PROTEIN STRUCTURE; REVIEW; STRUCTURE ACTIVITY RELATION;

BASEMENT MEMBRANE; CHROMOSOME MAPPING; FORECASTING; HUMANS; LAMININ; MUSCULAR DYSTROPHIES; PROTEIN STRUCTURE, TERTIARY; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 0030465319     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00384-7     Document Type: Review

References (69)

1. 1. Rohrbach D H, Timpl R, eds. Molecular and Cellular Aspects of Basement Membranes. San Diego, CA: Academic Press, 1993.
2. 2. Chung A E, Jaffe R, Freeman I L, Vergnes J-P, Braginski J E, Carlin B. Properties of a basement membrane-related glycoprotein synthesized by a mouse embryonal carcinoma-derived cell line. Cell 1979; 16: 277-287.
3. 3. Timpl R, Rohde H, Gehron Robey P, Rennard S I, Foidart J-M, Martin G R. Laminin - a glycoprotein from basement membranes. J Biol Chem 1979; 254: 9933-9937.
4. 4. Wewer U M, Engvall E. Laminins. Meth Enzymol 1994; 245: 85-104.
5. 5. Yamada Y, Kleinman H K. Functional domains of cell adhesion molecules. Curr Opin Cell Biol 1992; 4: 819-823.
6. 6. Tryggvason K. The laminin family. Curr Opin Cell Biol 1993; 5: 877-882.
7. 7. Burgeson R E, Chiquet M, Deutzmann R, et al. A new nomenclature for laminins. Matrix Biology 1994; 14: 209-211.
8. 8. Aumailley M, Krieg T. Laminins: a family of diverse multifunctional molecules of basement membranes. J Invest Dermatol 1996; 106: 209-214.
9. 9. Engvall E and Wewer U M. Domains of laminin. J Cell Biochem 1996; 61: 1-9.
10. 10. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum Molec Genet 4: 1711-1716.
11. 11. Campbell K P. Three muscular dystrophies: loss of cytoskeletal-extracellular matrix linkage. Cell 1995; 80: 675-679.
12. 12. Williamson R A, Ibraghimov-Beskrovnaya O, Hrstka R, Lee J, Sunada Y, Campbell K P. Inactivation of the murine dystroglycan gene produces an early midgestation embryonic lethal. Am J Hum Genet 1995; 57: A12.
13. 13. Roberds S L, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-633.
14. 14. Bönnemann C G, Modi R, Noguchi S, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 1995; 11: 266-273.
15. 15. Lim L E, Duclos F, Broux O, et al. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet 1995; 11: 257-265.
16. 16. Noguchi S, McNally E M, Ben Othmane K B, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-822
17. 17. Worton R. Perspective. Muscular dystrophies: diseases of the dystrophin-associated glycoprotein complex. Science 1995; 270: 755-756.
18. 18. Wewer U M, Durkin M E, Zhang X, et al. Laminin β2 and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Neurology 1995; 45: 2099-2101.
19. 19. Yamada H, Tomé F M S, Higuchi I, et al. Laminin abnormality in severe childhood autosomal recessive muscular dystrophy. Lab Invest 1995; 72: 715-722.
20. 20. Gache Y, Chavanas S, Lacour J P, et al. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 1996; 97: 2289-2298.
21. 21. McLean W H I, Pulkkinen L, Smith F J D, et al. Loss of plectin causes epidermolysis bullosa with congenital muscular dystrophy: cDNA cloning and genomic organization. Genes & Dev 1996; 10: 1724-1735.
22. 22. Smith F J D, Eady R A J, Leigh I M, et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nature Genet 1996; 13: 450-457.
23. 23. Jöbsis G J, Kreizers H, Vreijling J P, et al. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nature Genet 1996; 14: 113-115.
24. 24. Dubowitz V. Muscle Disorders in Childhood. 2nd edn. London: W B Saunders Co. Ltd., 1995.
25. 25. Tomé F M S, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris 1994; 317: 351-357.
26. 26. Dubowitz V, Fardeau M. Workshop report: 27th ENMC sponsored workshop on Congenital Muscular Dystrophy 22-24 April, 1994, The Netherlands. Neuromusc Disord 1995; 3: 75-81.
27. 27. Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin α2 chain gene (LAMA2) cause merosin-deficient muscular dystrophy. Nature Genet 1995; 11: 216-218.
28. 28. Nissinen M, Helbling-LeClerc A, Zhang X, et al. Substitution of a conserved cysteine-996 in a cysteine-rich motif of laminin-α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Genet 1996; 58: 1177-1184.
29. 29. Xu H, Christmas P, Wu X-R, Wewer U M, Engvall E. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA 1994; 91: 5572-5576.
30. 30. Xu H, Wu X-R, Wewer U M, Engvall E. Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene. Nature Genet 1994; 8: 297-302.
31. 31. Sunada Y, Bernier S M, Kozak C A, Yamada Y, Campell K P. Deficiency of merosin in dystrophic dy mice and genetic linkage of the laminin M chain gene to the dy locus. J Biol Chem 1994; 269: 13729-13732.
32. 2J mice. Hum Molec Genet 1995; 4: 1055-1061.
33. 33. Fine J-D, Bauer E A, Briggaman R A, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991; 24: 119-135.
34. 34. Verrando P, Blanchet-Bardon C, Pisani A, et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest 1991; 64: 85-92.
35. 35. Kivirikko S, McGrath J A, Pulkkinen L, Uitto J, Christiano A M. Mutational hotspots in the LAMB3 gene in lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Molec Genet 1996; 5: 231-237.
36. 36. Vidal F, Aberdam D, Miquel C, et al. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 1995; 10: 229-234.
37. 37. Christiano A M, Pulkkinen L, Eady R A J, Uitto J. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 1996; 106: 775-777.
38. 38. Vuolteenaho R, Chow L T, Tryggvason K. Structure of the human laminin B1 chain gene. J Biol Chem 1990; 265: 15611-15616.
39. 39. Durkin M E, Gautam M, Loechel F, et al. Structural organization of the human and mouse laminin β2 chain genes, and alternative splicing at the 5′ end of the human transcript. J Biol Chem 1996; 271: 13407-13416.
40. 40. Pulkkinen L, Gerecke D R, Christiano A M, Wagman D W, Burgeson R E, Uitto J. Cloning of the β3 chain gene (LAMB3) of human lammin 5, a candidate gene in the junctional epidermolysis bullosa. Genomics 1995; 25: 192-198.
41. 41. Kallunki T, Ikonen J, Chow L T, Kallunki P, Tryggvason K. Structure of the human laminin B2 chain gene reveals extensive divergence from the laminin B1 chain gene. J Biol Chem 1991; 266: 221-228.
42. 42. Airenne T, Haakana H, Sainio K, et al. Structure of the human laminin γ2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts. Genomics 1996; 32: 54-64.
43. 43. Engel J. Electron microscopy of extracellular matrix proteins components. Methods Enzymol 1994; 245: 469-488.
44. 44. Sasaki M, Kato S, Kohno K, Martin G R, Yamada Y. Sequence of the cDNA encoding the laminin B1 chain reveals a multidomain protein containing cysteine-rich repeats. Proc Natl Acad Sci USA 1987; 84: 935-939.
45. 45. Yurchenco P D, Cheng Y-S. Self-assembly and calcium-binding sites in laminin. A three arm interaction model. J Biol Chem 1993; 268; 17286-17299.
46. 46. Ekblom M, Klein G, Mugrauer G, et al. Transient and locally restricted expression of laminin A chain mRNA by developing epithelial cells during kidney organogenesis. Cell 1990; 60: 337-346.
47. 47. Sanes J R, Engvall E, Butkowski R, Hunter D D. Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere. J Cell Biol 1990; 111: 1685-1699.
48. 48. Virtanen I, Tani T, Bäck N, et al. Differential expression of laminin chains and their integrins in human gastric mucosa. Amer J Pathol 1995; 147: 1123-1132.
49. 49. Schuler F, Sorokin L M. Expression of laminin isoforms in mouse myogenic cells in vitro and in vivo. J Cell Sci 1995; 108: 3795-3805.
50. 50. Sewry C A, Chevallay M, Tomé F M S. Expression of laminin subunits in human fetal skeletal muscle. Histochem J 1995; 27: 497-504.
51. 51. Jucker M, Tian M, Norton D D, Sherman C, Kusiak J W. Laminin α2 is a component of brain capillary basement membrane : reduced expression in dystrophic mice. Neuroscience 1996; 71: 1153-1161.
52. 52. Leivo I, Engvall E. Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proc Natl Acad Sci USA 1988; 85: 1544-1548.
53. 53. Engvall E, Earwicker D, Haaparanta T, Ruoslahti E, Sanes J. Distribution and isolation of four laminin variants; tissue restricted distribution of heterotrimers assembled from five different subunits. Cell Regul 1990; 1: 731-740.
54. 54. Champliaud M-F, Lunstrum G P, Rouselle P, Nishiyama T, Keene D R, Burgeson R E. 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 1996; 132: 1189-1198.
55. 55. Vuolteenaho R, Nissinen M, Sainio K, et al. Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 1994; 124: 381-394.
56. 56. Sewry C, Philpot J, Sorokin L M, et al. Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy. Lancet 1996; 347: 582-584.
57. 57. Grover A, Oshima R G, Adamson E D. Epithelial layer formation in differentiating aggregates of F9 embryonal carcinoma cells. J Cell Biol 1983; 96: 1690-1696.
58. 58. Hogan, B L M. High molecular weight extracellular proteins synthesized by endodermal cells from mouse teratocarcinoma cells and normal extraembyonic membranes. Dev Biol 1980; 76: 275-285.
59. 59. Peters B P, Hartle R J, Krzesicki R F, et al. The biosynthesis, processing and secretion of laminin by human choriocarcinoma cells. J Biol Chem 1985; 260: 14732-14742.
60. 60. De Arcangelis A, Neuville P, Boukamel R, Lefebvre O, Kedinger M, Simon-Assmann P. 1996; Inhibition of laminin αI-chain expression leads to alteration of basement membrane asembly and cell differentiation. J Cell Biol 1996; 133: 417-430.
61. 61. Utani A, Nomizu M, Timpl R, Roller P P, Yamada Y. Laminin chain assembly. Specific sequences at the C terminus of the long arm are required for the formation of specific double-and triple-stranded coilded-coil structures. J Biol Chem 1994; 269: 19167-19175.
62. 62. Nomizu M, Utani A, Beck K, Otaka A, Roller P P, Yamada Y. Mechanism of laminin chain assembly into a triple-stranded coiled-coil structure. Biochemistry 1996; 35: 2885-2893.
63. 63. Colognato-Pyke H, O'Rear J J, Yamada Y, Carbonetto S, Cheng Y-S, Yurchenco P D. Mapping of network-forming, heparin-binding, and α1/β1 integrin-recognition sites within the α-chain short arm of laminin-1. J Biol Chem 1995; 270: 9398-9406.
64. 64. Hayashi Y K, Engvall E, Arikawa-Hirasawa E, et al. Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993; 119: 53-64.
65. 65. Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease (MEB). A neuropathological study. Ann Neurol in press.
66. 66. Mayer U, Nischt R, Pöschl E, et al. A single EGF-like motif of laminin is responsible for high affinity nidogen binding. EMBO J. 1993; 12: 1879-1885.
67. 67. Mecham R P. Receptors for laminin on mammalian cells. FASEB J 1991; 5: 2538-2546.
68. 68. Mercurio A M. Laminin receptors: achieving specificity through cooperation. Trends Cell Biol 1995; 5: 419-423.
69. 69. Vachon P H, Loechel F, Xu H, Wewer U M, Engvall E. Merosin and laminin in myogenesis; requirement for merosin in myotube stability and survival. J Cell Biol 1996; 134: 1483-1499.