The LINC complex and human disease

Biochemical Society Transactions

Volumn 39, Issue 6, 2011, Pages 1693-1697

  Meinke, Peter ^a   Thuy, Duong Nguyen ^a,b   Wehnert, Manfred S ^a  

^a Institute of Human Genetics   (Germany)

^b INSTITUTE OF BIOTECHNOLOGY   (Viet Nam)

Author keywords

Emery Dreifuss muscular dystrophy (EDMD); Linker of nucleoskeleton and cytoskeleton complex (LINC complex); Neuromuscular disorder

Indexed keywords

BARRIER TO AUTOINTEGRATION FACTOR; CELL PROTEIN; EMERIN; LAMIN A; LAMIN B; LAMIN C; LINKER OF NUCLEOSKELETON AND CYTOSKELETON PROTEIN; NESPRIN 1; NESPRIN 2; SUN1 PROTEIN; SUN2 PROTEIN; UNCLASSIFIED DRUG;

ACTIN FILAMENT; CELL NUCLEUS MEMBRANE; CONFERENCE PAPER; CYTOSKELETON; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION;

BASE SEQUENCE; DISEASE; HUMANS; LAMIN TYPE A; MOLECULAR SEQUENCE DATA; MULTIPROTEIN COMPLEXES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS;

EID: 81855220961     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20110658     Document Type: Conference Paper

References (38)

1. Crisp, M., Liu, Q., Roux, K., Rattner, J.B., Shanahan, C., Burke, B., Stahl, P.D. and Hodzic, D. (2006) Coupling of the nucleus and cytoplasm: role of the LINC complex. J. Cell Biol. 172, 41-53 (Pubitemid 43042628)
2. Östlund, C., Folker, E.S., Choi, J.C., Gomes, E.R., Gundersen, G.G. and Worman, H.J. (2009) Dynamics and molecular interactions of linker of nucleoskeleton and cytoskeleton (LINC) complex proteins. J. Cell Sci. 122, 4099-4108
3. Luxton, G.W.G., Edgar, R., Gomes, E.R., Folker, E.S., Vintinner, E. and Gundersen, G.G. (2010) Linear arrays of nuclear envelope proteins harness retrograde actin flow for nuclear movement. Science 329, 956-959
4. Lombardi, M.L. and Lammerding, J. (2010) Altered mechanical properties of the nucleus in disease. Methods Cell Biol. 98, 122-144
5. Morris, G.E., Sewry, C.A. and Wehnert, M. (2010) Molecular genetics of Emery-Dreifuss muscular dystrophy. In Encyclopedia of Life Sciences (ELS), pp. 1-8, John Wiley and Sons, Chichester
6. Emery, A.E.H. (1989) Emery-Dreifuss syndrome. J. Med. Genet. 26, 637-641
7. Knoblauch, H., Geier, C., Adams, S., Budde, B., Rudolph, A., Zacharias, U., Schulz-Menger, J., Spuler, A., Yaou, R.B., Nürnberg, P. et al. (2009) Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann. Neurol. 67, 136-140
8. Hoeltzenbein, M., Karow, T., Zeller, J.A., Warzok, R., Wulff, K., Zschiesche, M., Herrmann, F.H., Grosse-Heitmeyer, W. and Wehnert, M. (1999) Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. Neuromusc. Disord. 9, 166-170 (Pubitemid 29336031)
9. Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Becane, H.M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U. et al. (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann. Neurol. 2, 170-180 (Pubitemid 30617035)
10. Fidzianska, A., Niebrój-Dobosz, I., Madej-Pilarczyk, A., Duong, N.T. and Wehnert, M. (2010) X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. Clin. Neuropathol. 29, 78-83
11. Mittelbronn, M., Hanisch, F., Gleichmann, M., Wehnert, M., Bonne, G., Rudnik-Schöneborn, S. and Bornemann, A. (2006) Myofiber degeneration in autosomal-dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). Brain Pathol. 16, 266-272
12. Favreau, C., Dubosclard, E., Östlund, C., Vigouroux, C., Capeau, J., Wehnert, M., Worman, H.J., Courvalin, J.-C. and Buendia, B. (2003) Expression of lamin A mutated in the carboxyl-terminal domain generates a cell type sensitive aberrant nuclear phenotype similar to that observed in cells from patients with naturally occurring lamin A/C mutations. Exp. Cell Res. 282, 14-23 (Pubitemid 36062608)
13. Kandert, S., Lüke, Y., Kleinhenz, T., Munck, M., Wehnert, M., Müller, C.R., Noegel, A., Dabauvalle, M.C. and Karakesisoglou, I. (2007) Nuclear envelope alterations and distinct localisation of nuclear proteins in a patient with a p. S143F mutation in the LMNA gene. Hum. Mol. Genet. 16, 2944-2959
14. Muchir, A., Medioni, J., Laluc, M., Massart, C., Arimura, T., van der Kooi, A.J., Desguerre, I., Mayer, M., Ferrer, X., Briault, S. et al. (2004) Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 30, 444-4540
15. Dubowitz, V. and Sewry, C.A. (2007) Muscle Biopsy: a Practical Approach, 3rd edn, Saunders-Elsevier, Oxford
16. Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G. and Toniolo, D. (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat. Genet. 8, 323-327 (Pubitemid 24375595)
17. Manilal, S., Nguyen, T.M., Sewry, C.A. and Morris, G.E. (1996) The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum. Mol. Genet. 5, 801-808 (Pubitemid 26171704)
18. Muchir, A. and Worman, H.J. (2007) Emery-Dreifuss muscular dystrophy. Curr. Neurol. Neurosci. Rep. 7, 78-83 (Pubitemid 46188779)
19. Markiewicz, E., Tilgner, K., Barker, N., van de Wetering, M., Clevers, H., Dorobek, M., Hausmanowa-Petrusewicz, I., Ramaekers, F.C., Broers, J.L., Blankesteijn, W.M. et al. (2006) The inner nuclear membrane protein emerin regulates β-catenin activity by restricting its accumulation in the nucleus. EMBO J. 25, 3275-3285 (Pubitemid 44141786)
20. Bonne, G., Di Barletta, M.R., Varnous, S., Bécan, H.-M., Hammouda, E.-H., Merlini, L., Muntoni, F., Greenberg, C.R., Gary, F., Urtizberea, J.-A. et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21, 285-288 (Pubitemid 29124935)
21. di Barletta, R., Ricci, M., Galluzzi, E., Tonali, G., Mora, P., Morandi, M., Romorini, L., Voit, T., Orstavik, K.H., Merlini, L. et al. (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 66, 1407-1412 (Pubitemid 30468795)
22. Rankin, J., Auer-Grumbach, M., Bagg, W., Colclough, K., Fenton-May, J., Hattersley, A., Hudson, J., Jardine, P., Josifova, D., Longman, C. et al. (2008) Extreme phenotypic diversity and non-penetrance in families with the LMNA gene mutation R644C. Am. J. Med. Genet. Part A 146, 1530-1542 (Pubitemid 351792399)
23. Vytopil, M., Ricci, E., Dello Russo, A., Hanisch, F., Neudecker, S., Zierz, H., Ricotti, R., Demay, L., Richard, P., Wehnert, M. et al. (2002) Frequent low penetrance mutations in the lamin A/C gene. Neuromusc. Disord. 12, 958-963
24. Worman, H.J. and Bonne, G. (2007) Laminopathies: a wide spectrum of human disease. Exp. Cell Res. 313, 2121-2133 (Pubitemid 46850729)
25. Bertrand, A.T., Chikhaoui, K., Ben Yaou, R. and Bonne, G. (2011) Clinical and genetic heterogeneity in laminopathies. Biochem. Soc. Trans. 39, 1687-1692
26. Libotte, T., Zaim, H., Abrahamm, S., Padmakumar, V.C., Schneider, M., Lu, W., Munck, M., Hutchison, C., Wehnert, M., Fahrenkrog, B. et al. (2005) Lamin A/C dependent localization of nesprin-2, a giant scaffolder at the nuclear envelope. Mol. Biol. Cell 16, 3111-3424
27. Zhang, Q., Bethmann, C., Worth, N.F., Davies, J.D., Wasner, C., Feuer, A., Ragnauth, C.D., Yi, Q., Mellad, J.A., Warren, D.T. et al. (2007) Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum. Mol. Genet. 16, 2816-2833 (Pubitemid 350048381)
28. Noegel, A.A. and Neumann, S. (2011) The role of nesprins as multifunctional organizers in the nucleus and the cytoskeleton. Biochem. Soc. Trans. 39, 1725-1728
29. Attali, R., Warwar, N., Israel, A., Gurt, I., McNally, E., Puckelwartz, M., Glick, B., Nevo, Y., Ben-Neriah, Z. and Melki, J. (2009) Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum. Mol. Genet. 18, 3462-3469
30. Muntoni, F., Bonne, G., Goldfarb, L.G., Mercuri, E., Piercy, R.J., Burke, M., Ben Yaou, R., Richard, P., Récan, D., Shatunov, A. et al. (2006) Disease severity in dominant Emery-Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 129, 1260-1268
31. Ben Yaou, R., Toutain, A., Arimura, T., Demay, L., Massart, C., Peccate, C., Muchir, A., Llense, S., Deburgrave, N., Leturcq, F. et al. (2007) Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism? Neurology 68, 1883-1894 (Pubitemid 46848620)
32. Clements, L., Manilal, S., Love, D.R. and Morris, G.E. (2000) Direct interaction between emerin and lamin A. Biochem. Biophys. Res. Commun. 267, 709-714 (Pubitemid 30099388)
33. Gueneau, L., Bertrand, A.T., Jais, J.-P., Salih, M.A., Stojkovic, T., Wehnert, M., Hoeltzenbein, M., Spuler, S., Saitoh, S., Verschueren, A. et al. (2009) Mutations of FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 85, 1-16
34. Windpassinger, C., Schoser, B., Straub, V., Hochmeister, S., Noor, A., Lohberger, B., Farra, N., Petek, E., Schwarzbraun, T., Ofner, L. et al. (2007) A novel X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am. J. Hum. Genet. 82, 88-99 (Pubitemid 351726081)
35. Schessl, J., Taratuto, A.L., Sewry, C., Battini, R., Chin, S.S., Maiti, B., Dubrovsky, A.L., Erro, M.G., Espada, G., Robertella, M. et al. (2009) Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 132, 452-464
36. Liang, W.-C., Mitsuhashi, H., Keduka, E., Nonaka, I., Noguchi, S., Nishino, I. and Hayashi, Y.K. (2011) TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann. Neurol. 69, 1005-1013
37. Haque, F., Mazzeo, D., Jennifer, T., Patel, J.T., Smallwood, D.T., Ellis, J.A., Shanahan, C.M. and Shackleton, S. (2010) Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease. J. Biol. Chem. 285, 3487-3498
38. Haraguchi, T., Holaska, J.M., Yamane, M., Koujin, T., Hashiguchi, N., Mori, C., Wilson, K.L. and Hiraoka, Y. (2004) Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur. J. Biochem. 271, 1035-1045 (Pubitemid 38299657)