Abstract
Naturally occurring mutations within the LMNA gene, which encodes nuclear lamin, have been identified in patients with three rare and apparently unrelated diseases. Understanding how these mutations cause disease will improve our knowledge of nuclear envelope function, as well as the pathogenesis of myopathy, cardiac conduction abnormalities and drug-induced lipodystrophy.
References
Gant, T.M. & Wilson, K.L. Nuclear assembly. Ann. Rev. Cell Dev. Biol. 13, 669–695 (1997).
Bonne, G. et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genet. 9, 102–112 (1999).
Fatkin, D. et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N. Engl. J. Med. 341, 1715–1724 (1999).
Cao, H. & Hegele, R.A. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Molec. Genet. 9, 109–112 (2000).
Bione, S. et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet. 8, 323–327 (1994).
Shackleton, S. et al. The LMNA gene encoding lamin A/C is mutated in partial lipodystrophy. Nature Genet. in press (2000)
Fisher, D.Z., Chaudhary, N. & Blobel, G. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc. Natl. Acad. Sci. USA 83, 6450–6454 (1986)
Stuurman, N., Heins, S. & Aebi, U. Nuclear lamins: their structure, assembly and interactions. J. Struct. Biol. 122, 42–66 (1998)
Morris, G.E. & Manlial, S. Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy. Hum. Molec. Genet. 8, 1847–1851 (1999)
Shimomura I., Hammer, R.E., Ikemoto, S., Brown, M.S. & Goldstein, J.L. Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature 401, 73–76 (1999).
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Hegele, R. The envelope, please: Nuclear lamins and disease. Nat Med 6, 136–137 (2000). https://doi.org/10.1038/72221
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DOI: https://doi.org/10.1038/72221
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