Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy

Novartis Foundation Symposium

Volumn 264, Issue , 2005, Pages 246-258

  Kozlov, Serguei ^a   Mounkes, Leslie ^a   Cutler, Dedra ^a   Sullivan, Terry ^a   Hernandez, Lidia ^a   Levy, Nicolas ^b   Rottman, Jeff ^c   Stewart, Colin L ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b INSERM   (France)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A;

ANIMAL; CARDIOMYOPATHY; GENETICS; MOUSE; MUSCULAR DYSTROPHY; MUTATION; PROGERIA; REVIEW;

ANIMALS; CARDIOMYOPATHIES; LAMIN TYPE A; MICE; MUSCULAR DYSTROPHIES; MUTATION; PROGERIA;

EID: 16244380773     PISSN: 15282511     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (41)

1. Alsheimer M, Liebe B, Sewell L, Stewart CL, Scherthan H Benavente R 2004 Disruption of spermatogenesis in mice lacking A-type lamins. J Cell Sci 117:1173-1178
2. Bione S, Maestrini E, Rivella S et al 1994 Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8:323-327
3. Björntorp P 1998 Etiology of the metabolic syndrome. In: Bray GA, Bouchard C, James WPT (eds) Handbook of obesity. Dekker Inc., New York, p 573-600
4. Burke B Stewart CL 2002 Life at the edge: the nuclear envelope and human disease. Nat Rev Mol Cell Biol 3:575-585
5. Chaouch M, Allal Y, De Sandre-Giovannoli A et al 2003 The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord 13:60-67
6. Chen L, Lee L, Kudlow BA et al 2003 LMNA mutations in atypical Werner's syndrome. Lancet 362:440-445
7. Cutler DA, Sullivan T, Marcus-Samuels B, Stewart CL Reitman ML 2002 Characterization of adiposity and metabolism in Lmna-deficient mice. Biochem Biophys Res Commun 291:522-527
8. De Sandre-Giovannoli A, Chaouch M, Kozlov S et al 2002 Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot- Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70:726-736
9. De Sandre-Giovannoli A, Bernard R et al 2003 Lamin a truncation in Hutchinson-Gilford progeria. Science 300:2055
10. Eriksson M, Brown WT, Gordon LB et al 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293-298
11. Fatkin D, MacRae C, Sasaki T et al 1999 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
12. Fry M 2002 The Werner syndrome helicase-nuclease - one protein, many mysteries. Sci Aging Knowledge Environ (13):re2
13. Goldman RD, Gruenbaum Y, Moir RD, Shumaker DK Spann TP 2002 Nuclear lamins: building blocks of nuclear architecture. Genes Dev 16:533-547
14. Hepple RT 2003 Sarcopenia - a critical perspective. Sci Aging Knowledge Environ (46):pe31
15. Hickson ID 2003 RecQ helicases: caretakers of the genome. Nat Rev Cancer 3:169-178
16. Holaska JM, Lee KK, Kowalski AK Wilson KL 2003 Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro. J Biol Chem 278:6969-6975
17. Imai S, Nishibayashi S, Takao K et al 1997 Dissociation of Oct-1 from the nuclear peripheral structure induces the cellular aging-associated collagenase gene expression. Mol Biol Cell 8:2407-2419
18. Kennedy BK, Barbie DA, Classon M, Dyson N Harlow E 2000 Nuclear organization of DNA replication in primary mammalian cells. Genes Dev 14:2855-2868
19. Lammerding J, Schulze PC, Takahashi T et al 2004 Lamin A/C defficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113:370-378
20. Maidment SL Ellis JA 2002 Muscular dystrophies, dilated cardiomyopathy, lipodystrophy and neuropathy: the nuclear connection. Expert Rev Mol Med 4:1-21
21. Martin GM Oshima J 2000 Lessons from human progeroid syndromes. Nature 408:263-266
22. Melcon M, Kozlov S, Cutler DA et al 2005 Loss of emerin at the nuclear envelope disrupts the Rb and E2F developmental pathways during muscle regeneration, in preparation
23. Mohaghegh P Hickson ID 2001 DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Hum Mol Genet 10:741-746
24. Mounkes L, Kozlov S, Burke B Stewart CL 2003a The laminopathies: nuclear structure meets disease. Curr Opin Genet Dev 13:223-230
25. Mounkes LC, Kozlov S, Hernandez L, Sullivan T Stewart CL 2003b A progeroid syndrome in mice is caused by defects in A-type lamins. Nature 423:298-301
26. Mounkes L, Kozov S, Rottman J Stewart CL 2005 Mice expressing mutant A-type lamins develop cardiac conduction system defects leading to sudden death, in preparation
27. Muchir A, van Engelen BG, Lammens M et al 2003 Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res 291:352-362
28. Nikolova V, Leimena C, McMahon AC et al 2004 Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest 113:357-369
29. Nili E, Cojocaru GS, Kalma Y et al 2001 Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less). J Cell Sci 114:3297-3307
30. Osada S, Ohmori SY Taira M 2003 XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos. Development 130:1783-1794
31. Oshima J 2000 The Werner syndrome protein: an update. Bioessays 22:894-901
32. Rober RA, Weber K Osborn M 1989 Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. Development 105:365-378
33. Rober RA, Sauter H, Weber K Osborn M 1990 Cells of the cellular immune and hemopoietic system of the mouse lack lamins A/C: distinction versus other somatic cells. J Cell Sci 95:587-598
34. Sarkar PK, Shinton RA 2001 Hutchinson-Gilford progeria syndrome. Postgrad Med J 77:312-317
35. Sinclair D, Dangerfield PH 1998 Human growth after birth. Oxford University Press, Oxford, p 1-251
36. Stewart C, Burke B 1987 Teratocarcinoma stem cells and early mouse embryos contain only a single major lamin polypeptide closely resembling lamin B. Cell 51:383-392
37. Sullivan T, Escalante-Alcalde D, Bhatt H et al 1999 Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147:913-920
38. Wilkinson FL, Holaska JM, Zhang Z et al 2003 Emerin interacts in vitro with the splicing-associated factor, YT521-B. Eur J Biochem 270:2459-2466
39. Worman HJ Courvalin JC 2002 The nuclear lamina and inherited disease. Trends Cell Biol 12:591-598
40. Yu YH Zhu H 2004 Chronological changes in metabolism and functions of cultured adipocytes - a hypothesis for cell aging in mature adipocytes. Am J Physiol Endocrinol Metab 286:E402-E410
41. Zhao P Hoffman EP 2004 Embryonic myogenesis pathways in muscle regeneration. Dev Dyn 229:380-392