Human Molecular Genetics, 2000, Vol. 9, No. 1 109-112
© 2000 Oxford University Press
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, Canada N6A 5K8
Patients with Dunnigan-type familial partial lipodystrophy (FPLD) are born with normal fat distribution, but after puberty experience regional and progressive adipocyte degeneration, often associated with profound insulin resistance and diabetes. Recently, the FPLD gene was mapped to chromosome 1q21–22, which harbours the LMNA gene encoding nuclear lamins A and C. Mutations in LMNA were shown to underlie autosomal dominant Emery–Dreifuss muscular dystrophy (EDMD-AD), which is characterized by regional and progressive skeletal muscle wasting and cardiac effects. We hypothesized that the analogy between the regional muscle wasting in EDMD-AD and the regional adipocyte degeneration in FPLD, in addition to its chromosomal localization, made LMNA a good candidate gene for FPLD. DNA sequencing of LMNA in five Canadian FPLD probands indicated that each had a novel missense mutation, R482Q, which co-segregated with the FPLD phenotype and was absent from 2000 normal alleles (P = 1.1 x 10–13). This is the first report of a mutation underlying a degenerative disorder of adipose tissue and suggests that LMNA mutations could underlie other diseases characterized by tissue type- and anatomical site-specific cellular degeneration.
+ To whom correspondence should be addressed. Tel: +1 519 663 3461; Fax: +1 519 663 3789; Email: robert.hegele@rri.on.ca
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E. A. Oral, E. Ruiz, A. Andewelt, N. Sebring, A. J. Wagner, A. M. Depaoli, and P. Gorden Effect of Leptin Replacement on Pituitary Hormone Regulation in Patients with Severe Lipodystrophy J. Clin. Endocrinol. Metab., July 1, 2002; 87(7): 3110 - 3117. [Abstract] [Full Text] [PDF]
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S. Dhe-Paganon, E. D. Werner, Y.-I. Chi, and S. E. Shoelson Structure of the Globular Tail of Nuclear Lamin J. Biol. Chem., May 10, 2002; 277(20): 17381 - 17384. [Abstract] [Full Text] [PDF]
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D. J. Lloyd, R. C. Trembath, and S. Shackleton A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies Hum. Mol. Genet., April 1, 2002; 11(7): 769 - 777. [Abstract] [Full Text] [PDF]
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E. Arbustini, A. Pilotto, A. Repetto, M. Grasso, A. Negri, M. Diegoli, C. Campana, L. Scelsi, E. Baldini, A. Gavazzi, et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease J. Am. Coll. Cardiol., March 20, 2002; 39(6): 981 - 990. [Abstract] [Full Text] [PDF]
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C. Ostlund, G. Bonne, K. Schwartz, and H. J. Worman Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy J. Cell Sci., March 14, 2002; 114(24): 4435 - 4445. [Abstract] [Full Text] [PDF]
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W. H. Raharjo, P. Enarson, T. Sullivan, C. L. Stewart, and B. Burke Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy J. Cell Sci., March 14, 2002; 114(24): 4447 - 4457. [Abstract] [Full Text] [PDF]
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C. Vigouroux, M. Auclair, E. Dubosclard, M. Pouchelet, J. Capeau, J.-C. Courvalin, and B. Buendia Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene J. Cell Sci., March 14, 2002; 114(24): 4459 - 4468. [Abstract] [Full Text] [PDF]
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Q. Zhang, J. N. Skepper, F. Yang, J. D. Davies, L. Hegyi, R. G. Roberts, P. L. Weissberg, J. A. Ellis, and C. M. Shanahan Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues J. Cell Sci., March 14, 2002; 114(24): 4485 - 4498. [Abstract] [Full Text] [PDF]
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T. Haraguchi, T. Koujin, M. Segura-Totten, K. K. Lee, Y. Matsuoka, Y. Yoneda, K. L. Wilson, and Y. Hiraoka BAF is required for emerin assembly into the reforming nuclear envelope J. Cell Sci., March 14, 2002; 114(24): 4575 - 4585. [Abstract] [Full Text] [PDF]
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Bh. Muralikrishna, J. Dhawan, N. Rangaraj, and V. K. Parnaik Distinct changes in intranuclear lamin A/C organization during myoblast differentiation J. Cell Sci., March 13, 2002; 114(22): 4001 - 4011. [Abstract] [Full Text] [PDF]
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E. Nili, G. S. Cojocaru, Y. Kalma, D. Ginsberg, N. G. Copeland, D. J. Gilbert, N. A. Jenkins, R. Berger, S. Shaklai, N. Amariglio, et al. Nuclear membrane protein LAP2{beta} mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less) J. Cell Sci., March 11, 2002; 114(18): 3297 - 3307. [Abstract] [Full Text] [PDF]
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O. A. Vaughan, M. Alvarez-Reyes, J. M. Bridger, J. L. V. Broers, F. C. S. Ramaekers, M. Wehnert, G. E. Morris, W. G. F. Whitfield, and C. J. Hutchison Both emerin and lamin C depend on lamin A for localization at the nuclear envelope J. Cell Sci., March 9, 2002; 114(14): 2577 - 2590. [Abstract] [Full Text] [PDF]
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 R. D. Goldman, Y. Gruenbaum, R. D. Moir, D. K. Shumaker, and T. P. Spann Nuclear lamins: building blocks of nuclear architecture Genes & Dev., March 1, 2002; 16(5): 533 - 547. [Full Text] [PDF]
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E. A. Oral, V. Simha, E. Ruiz, A. Andewelt, A. Premkumar, P. Snell, A. J. Wagner, A. M. DePaoli, M. L. Reitman, S. I. Taylor, et al. Leptin-Replacement Therapy for Lipodystrophy N. Engl. J. Med., February 21, 2002; 346(8): 570 - 578. [Abstract] [Full Text] [PDF]
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C. J. Lelliott, L. Logie, C. P. Sewter, D. Berger, P. Jani, F. Blows, S. O'Rahilly, and A. Vidal-Puig Lamin Expression in Human Adipose Cells in Relation to Anatomical Site and Differentiation State J. Clin. Endocrinol. Metab., February 1, 2002; 87(2): 728 - 734. [Abstract] [Full Text] [PDF]
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 H. H.-J. Schmidt and R. A. Hegele Consider Cardiomyopathy in Subjects With Familial Partial Lipodystrophy Response Circulation, January 15, 2002; 105 (2): e7 - e7. [Full Text] [PDF]
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W. Wu, F. Lin, and H. J. Worman Intracellular trafficking of MAN1, an integral protein of the nuclear envelope inner membrane J. Cell Sci., January 4, 2002; 115(7): 1361 - 1371. [Abstract] [Full Text] [PDF]
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J. M. K. Mislow, M. S. Kim, D. B. Davis, and E. M. McNally Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C J. Cell Sci., January 1, 2002; 115(1): 61 - 70. [Abstract] [Full Text] [PDF]
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R. A. Hegele, M. W. Huff, and T. K. Young Common Genomic Variation in LMNA Modulates Indexes of Obesity in Inuit J. Clin. Endocrinol. Metab., June 1, 2001; 86(6): 2747 - 2751. [Abstract] [Full Text] [PDF]
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K. Ebihara, Y. Ogawa, H. Masuzaki, M. Shintani, F. Miyanaga, M. Aizawa-Abe, T. Hayashi, K. Hosoda, G. Inoue, Y. Yoshimasa, et al. Transgenic Overexpression of Leptin Rescues Insulin Resistance and Diabetes in a Mouse Model of Lipoatrophic Diabetes Diabetes, June 1, 2001; 50(6): 1440 - 1448. [Abstract] [Full Text]
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N.-O. Ku, R. Gish, T. L. Wright, and M. B. Omary Keratin 8 Mutations in Patients with Cryptogenic Liver Disease N. Engl. J. Med., May 24, 2001; 344(21): 1580 - 1587. [Abstract] [Full Text] [PDF]
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R. A. Hegele Premature Atherosclerosis Associated With Monogenic Insulin Resistance Circulation, May 8, 2001; 103(18): 2225 - 2229. [Abstract] [Full Text] [PDF]
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H. H.-J. Schmidt, J. Genschel, P. Baier, M. Schmidt, J. Ockenga, U. J. F. Tietge, M. Pröpsting, C. Büttner, M. P. Manns, H. Lochs, et al. Dyslipemia in Familial Partial Lipodystrophy Caused by an R482W Mutation in the LMNA Gene J. Clin. Endocrinol. Metab., May 1, 2001; 86(5): 2289 - 2295. [Abstract] [Full Text]
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E. C. Schirmer, T. Guan, and L. Gerace Involvement of the Lamin Rod Domain in Heterotypic Lamin Interactions Important for Nuclear Organization J. Cell Biol., April 30, 2001; 153(3): 479 - 490. [Abstract] [Full Text] [PDF]
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H. H.-J. Schmidt, H. Lochs, G. L. Brodsky, L. Mestroni, F. Muntoni, C. Sewry, S. Miocic, and G. Sinagra Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement Response Circulation, January 30, 2001; 103 (4): e20 - e20. [Full Text] [PDF]
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A. Garg, M. Vinaitheerthan, P. T. Weatherall, and A. M. Bowcock Phenotypic Heterogeneity in Patients with Familial Partial Lipodystrophy (Dunnigan Variety) Related to the Site of Missense Mutations in Lamin A/C Gene J. Clin. Endocrinol. Metab., January 1, 2001; 86(1): 59 - 65. [Abstract] [Full Text]
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C. Hutchison, M Alvarez-Reyes, and O. Vaughan Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? J. Cell Sci., January 1, 2001; 114(1): 9 - 19. [Abstract] [PDF]
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R. L. Steen, S. B. Martins, K. Tasken, and P. Collas Recruitment of Protein Phosphatase 1 to the Nuclear Envelope by a-Kinase Anchoring Protein Akap149 Is a Prerequisite for Nuclear Lamina Assembly J. Cell Biol., September 18, 2000; 150(6): 1251 - 1262. [Abstract] [Full Text] [PDF]
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R. A. Hegele, H. Cao, C. M. Anderson, and I. M. Hramiak Heterogeneity of Nuclear Lamin A Mutations in Dunnigan-Type Familial Partial Lipodystrophy J. Clin. Endocrinol. Metab., September 1, 2000; 85(9): 3431 - 3435. [Abstract] [Full Text]
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K. K. Lee, Y. Gruenbaum, P. Spann, J. Liu, and K. L. Wilson C. elegans Nuclear Envelope Proteins Emerin, MAN1, Lamin, and Nucleoporins Reveal Unique Timing of Nuclear Envelope Breakdown during Mitosis Mol. Biol. Cell, September 1, 2000; 11(9): 3089 - 3099. [Abstract] [Full Text]
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 E. Arioglu, J. Duncan-Morin, N. Sebring, K. I. Rother, N. Gottlieb, J. Lieberman, D. Herion, D. E. Kleiner, J. Reynolds, A. Premkumar, et al. Efficacy and Safety of Troglitazone in the Treatment of Lipodystrophy Syndromes Ann Intern Med, August 15, 2000; 133(4): 263 - 274. [Abstract] [Full Text] [PDF]
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