Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

Human Molecular Genetics

Volumn 8, Issue 2, 1999, Pages 353-359

  Manilal, S ^a   Sewry, C A ^b   Pereboev, A ^a,d   Thi Man, Nguyen ^a   Gobbi, P ^b   Hawkes, S ^c,e   Love, D R ^c   Morris, G E ^a  

^a GLYNDWR UNIVERSITY   (United Kingdom)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EMERIN; LAMIN; MONOCLONAL ANTIBODY; POLYCLONAL ANTIBODY;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL NUCLEUS MEMBRANE; EMERY DREIFUSS MUSCULAR DYSTROPHY; HEART MUSCLE CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; NONHUMAN; PRIORITY JOURNAL; RABBIT; SKELETAL MUSCLE;

AMINO ACID SEQUENCE; ANIMALS; ANTIBODIES, MONOCLONAL; HUMANS; IMMUNOHISTOCHEMISTRY; LAMIN TYPE A; LAMIN TYPE B; LAMINS; MEMBRANE PROTEINS; MICE; MICE, INBRED BALB C; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MYOCARDIUM; NUCLEAR PROTEINS; RABBITS; RATS; SEQUENCE HOMOLOGY, AMINO ACID; THYMOPOIETINS;

ANIMALIA; ORYCTOLAGUS CUNICULUS;

EID: 0032901402     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.353     Document Type: Article

References (23)

1. 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. Nature Genet., 8, 323-327.
2. Nagano, A., Koga, R., Ogawa, M., Kurano, Y., Kawada, J., Okada, R., Hayashi, Y.K., Tsukuhara, T. and Arahata, K. (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nature Genet., 12, 254-259.
3. Manilal S., Nguyen thi Man, 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.
4. Manilal, S., Recan, D., Sewry, C.A., Hoeltzenbein, M., Llense, S., Leturcq, F., Deburgrave, N., Barbot, J.-C. Nguyen thi Man, Muntoni, F., Wehnert, M., Kaplan, J.-C. and Morris, G.E. (1998) Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum. Mol. Genet., 7, 855-864.
5. Ye, Q. and Worman, H.J. (1994) Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane. J. Biol. Chem., 269, 11306-11311.
6. Foisner, R. and Gerace, L. (1993) Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation. Cell, 73, 1267-1279.
7. Furukawa, K., Panté, N., Aebi. U. and Gerace, L. (1995) Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope. EMBO J., 14, 1626-1636.
8. Wydner, K.L., McNeil, J.A., Lin, F., Worman, H.J. and Lawrence, J.B. (1996) Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNBI, and LBR by fluorescence in situ hybridisation. Genomics, 32, 474-478.
9. Manilal, S., Nguyen thi Man and Morris, G.E. (1998) Colocalization of emerin and lamins in interphase nuclei and changes during mitosis. Biochem. Biophys. Res. Commun., 249, 643-647.
10. Emery, A.E.H. (1989) Emery-Dreifuss syndrome. J. Med Genet., 26,637-641.
11. Cartegni, L.. di Barletta, M.R., Barresi, R., Squarzoni, S., Sabatelli, P., Maraldi, N., Mora, M., di Blasi, C., Cornelio, F., Merlini, L., Villa, A., Cobianchi, F. and Toniolo, D. (1997) Heart-specific localisation of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum. Mol. Genet., 6, 2257-2264.
12. Morris, G.E. (1989) Monoclonal antibody studies of creatine kinase. The ART epitope: evidence for an intermediate in protein folding. Biochem. J., 257, 461-469.
13. Broers, J.L.V., Machiels, B.M., Kuijpers, H.J.H., Smedts, F., van der Kieboom, R., Raymond, Y. and Ramaekers, F.C.S. (1997) A- and B-type lamins are differentially expressed in normal human tissues. Histochem. Cell Biol., 107, 505-517.
14. Ausma, J., van Eys, G.J.J.M., Broers, J.L.V., Thone, F., Flameng, W., Ramaekers, F.C.S. and Borgers, M. (1996) Nuclear lamin expression in chronic hibernating myocardium in man. J. Mol. Cell. Cardiol., 28, 1297-1305.
15. Ellenberg, J., Siggia, E.D., Moreira, J.E., Smith, C.L., Presley, J.F., Worman, H.J. and Lippincott-Schwartz, J. (1997) Nuclear membrane dynamics and reassembly in living cells: targeting of an inner nuclear membrane protein in interphase and mitosis., J. Cell Biol., 138, 1193-1206.
16. Yang, L., Guan, T. and Gerace, L. (1997) Lamin-binding fragment of LAP2 inhibits increase in nuclear volume during the cell cycle and progression into S phase. J. Cell Biol., 139, 1077-1087.
17. Bonne, G., di Barletta, M.R., Varnous, S., Becane, H.-M., Hammouda, E., Urtizberea, J.-A., Duboc, D., Toniolo, D., Fardeau, M. and Schwanz, K. (1998) Genetic localization of autosomal dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve, (Suppl. 7), S65.
18. Nguyen thi Man and Morris, G.E. (1996) Production of panels of monoclonal antibodies by the hybridoma method. In Morris, G.E. (ed.), Epitope Mapping Protocols. Humana Press, Totowa, NJ, pp. 377-389.
19. Pereboev, A. and Morris, G.E. (1996) Reiterative screening of phage-display peptide libraries with antibodies. In Morris, G.E. (ed.), Epitope Mapping Protocols. Humana Press, Totowa, NJ, pp. 195-206.
20. Nguyen thi Man, Ellis, J.M., Love, D.R., Davies, K.E., Gatter, K.C., Dickson, G. and Morris, G.E. (1991) Localisation of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophin skeletal muscle, in vascular and other smooth muscles, and in proliferating brain cell lines. J. Cell Biol., 115, 1695-1700.
21. Nguyen thi Man, Cartwright, A.J., Morris, G.E., Love, D.R., Bloomfield, J.R. and Davies, K.E. (1990) Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin. FEBS Lett., 262, 237-240.
22. Small, K., Wagener, M. and Warren, S.T. (1997) Isolation and characterization of the complete mouse emerin gene. Mamm. Genome, 8, 337-341.
23. Ellis, J.A., Craxton, M., Yates, J.R. and Kendrick-Jones, J. (1998) Aberrant intracellular targetting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreyfuss muscular dystrophy phenotype. J. Cell Sci., 111, 781-792.