Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy

Journal of Investigative Dermatology

Volumn 125, Issue 5, 2005, Pages 913-919

  Moulson, Casey L ^a   Go, Gloriosa ^a   Gardner, Jennifer M ^a   Van Der Wal, Allard C ^b   Smitt, J Henk Sillevis ^b   Van Hagen, Johanna M ^c   Miner, Jeffrey H ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

FATP4 protein; Lamin A; Nuclear envelope; STE24 protein

Indexed keywords

LAMIN A; LAMIN C; METALLOPROTEINASE; UNCLASSIFIED DRUG; ZINC METALLOPROTEINASE 24; LIPOPROTEIN; MEMBRANE PROTEIN; ZMPSTE24 PROTEIN, HUMAN;

ARTICLE; CELL CULTURE; CELL NUCLEUS; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LAMINOPATHY RESTRICTIVE DERMOPATHY; PRIORITY JOURNAL; PROTEIN AGGREGATION; SKIN DISEASE; TISSUE CULTURE; CELL NUCLEUS MEMBRANE; CHEMISTRY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; METABOLISM; MUTATION; PEDIGREE; PROGERIA; PROTEIN PROCESSING;

CELL NUCLEUS; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LAMIN TYPE A; LIPOPROTEINS; MEMBRANE PROTEINS; METALLOPROTEASES; MUTATION; NUCLEAR ENVELOPE; PEDIGREE; PROGERIA; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 30844451421     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23846.x     Document Type: Article

References (36)

1. Agarwal AK, Fryns JP, Auchus RJ, Garg A: Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 12:1995-2001, 2003
2. Bergo MO, Gavino B, Ross J, et al: Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect. Proc Natl Acad Sci USA 99:13049-13054, 2002
3. Capanni C, Cenni V, Mattioli E, et al: Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: Altered intermolecular interaction with emerin and implications for gene transcription. Exp Cell Res 291:122-134, 2003
4. Caux F, Dubosclard E, Lascols O, et al: A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J Clin Endocrinol Metab 88:1006-1013, 2003
5. Coombs NJ, Gough AC, Primrose JN: Optimisation of DNA and RNA extraction from archival formalin-fixed tissue. Nucleic Acids Res 27:e12, 1999
6. den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 15:7-12, 2000
7. Dreuillet C, Tillit J, Kress M, Ernoult-Lange M: In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C. Nucleic Acids Res 30:4634-4642, 2002
8. Fong LG, Ng JK, Meta M, et al: Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. Proc Natl Acad Sci USA 101:18111-18116, 2004
9. Goldman RD, Shumaker DK, Erdos MR, et al: Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 101:8963-8968, 2004
10. Hentze MW, Kulozik AE: A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96:307-310, 1999
11. Herrmann T, van der Hoeven F, Grone HJ, et al: Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. J Cell Biol 161:1105-1115, 2003
12. Holt I, Ostlund C, Stewart CL, Man N, Worman HJ, Morris GE: Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. J Cell Sci 116:3027-3035, 2003
13. Lammerding J, Schulze PC, Takahashi T, et al: Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113:370-378, 2004
14. Lee KK, Haraguchi T, Lee RS, Koujin T, Hiraoka Y, Wilson KL: Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. J Cell Sci 114:4567-4573, 2001
15. Lin M, Wei LJ, Sellers WR, Lieberfarb M, Wong WH, Li C: dChipSNP: Significance curve and clustering of SNP-array-based loss-of-heterozygosity data. Bioinformatics 20:1233-1240, 2004
16. Lloyd DJ, Trembath RC, Shackleton S: A novel interaction between lamin A and SREBP1: Implications for partial lipodystrophy and other laminopathies. Hum Mol Genet 11:769-777, 2002
17. Lowry RB, Machin GA, Morgan K, Mayock D, Marx L: Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in Hutterite and Mennonite kindreds. Am J Med Genet 22:531-543, 1985
18. Mancini MA, Shan B, Nickerson JA, Penman S, Lee WH: The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein. Proc Natl Acad Sci USA 91:418-422, 1994
19. Matsuzaki H, Loi H, Dong S, et al: Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res 14:414-425, 2004
20. Mau U, Kendziorra H, Kaiser R, Enders H: Restrictive dermopathy: Report and review. Am J Med Genet 71:179-185, 1997
21. Mislow JM, Holaska JM, Kim MS, Lee KK, Segura-Totten M, Wilson KL, McNally EM: Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro. FEBS Lett 525:135-140, 2002
22. Moulson CL, Martin DR, Lugus JJ, Schaffer JE, Lind AC, Miner JH: Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development. Proc Natl Acad Sci USA 100:5274-5279, 2003
23. Muchir A, Medioni J, Laluc M, et al: Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 30:444-450, 2004
24. Navarro CL, De Sandre-Giovannoli A, Bernard R, et al: Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 13:2493-2503, 2004
25. Nikolova V, Leimena C, McMahon AC, et al: Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest 113:357-369, 2004
26. Novelli G, Muchir A, Sangiuolo F, et al: Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71:426-431, 2002
27. Ostlund C, Bonne G, Schwartz K, Worman HJ: Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J Cell Sci 114:4435-4445, 2001
28. Pendas AM, Zhou Z, Cadinanos J, et al: Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet 31:94-99, 2002
29. Sakaki M, Koike H, Takahashi N, Sasagawa N, Tomioka S, Arahata K, Ishiura S: Interaction between emerin and nuclear lamins. J Biochem (Tokyo) 129:321-327, 2001
30. Schmidt WK, Tam A, Michaelis S: Reconstitution of the Ste24p-dependent N-terminal proteolytic step in yeast a-factor biogenesis. J Biol Chem 275:6227-6233, 2000
31. Sermon K, Van Steirteghem A, Liebaers I: Preimplantation genetic diagnosis. Lancet 363:1633-1641, 2004
32. Sillevis Smitt JH, van Asperen CJ, Niessen CM, et al: Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. Arch Dermatol 134:577-579, 1998
33. Welsh KM, Smoller BR, Holbrook KA, Johnston K: Restrictive dermopathy. Report of two affected siblings and a review of the literature. Arch Dermatol 128:228-231, 1992
34. Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP: Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia. Am J Med Genet 24:631-648, 1986
35. Worman HJ, Courvalin JC: How do mutations in lamins A and C cause disease? J Clin Invest 113:349-351, 2004
36. Zastrow MS, Vlcek S, Wilson KL: Proteins that bind A-type lamins: Integrating isolated clues. J Cell Sci 117:979-987, 2004