Zinc metalloproteinase ZMPSTE24, is mutated in mandibuloacral dysplasia

Human Molecular Genetics

Volumn 12, Issue 16, 2003, Pages 1995-2001

  Agarwal, Anil K ^a   Fryns, Jean Pierre ^b   Auchus, Richard J ^a   Garg, Abhimanyu ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

FACTOR A; LAMIN A; LAMIN B; METALLOPROTEINASE; NUCLEAR PROTEIN; PHENYLALANINE; PHEROMONE; PROTEINASE; TRYPTOPHAN;

ACROOSTEOLYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CLAVICLE; CONTROLLED STUDY; DYSPLASIA; ENZYME DEFICIENCY; GENE MUTATION; HAPLOIDY; HUMAN; LIPODYSTROPHY; MANDIBLE HYPOPLASIA; MANDIBULOACRAL DYSPLASIA; MATING; MISSENSE MUTATION; MUTANT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PROCESSING; SEQUENCE HOMOLOGY; SKELETON MALFORMATION; SKIN ATROPHY; YEAST;

ABNORMALITIES, MULTIPLE; ACRO-OSTEOLYSIS; ATROPHY; CLAVICLE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY; LIPOPROTEINS; MANDIBLE; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; METALLOPROTEASES; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN PRECURSORS; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE ANALYSIS;

EID: 0041919374     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg213     Document Type: Article

References (31)

1. Simha, V. and Garg, A. (2002) Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J. Clin. Endocrinol. Metab., 87, 776-785.
2. Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc. A., D'Apice, M.R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R. et al. (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am. J. Hum. Genet., 71, 426-431.
3. Lin, F. and Worman, H.J. (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem., 268, 16321-16326.
4. Fisher, D.Z., Chaudhary, N. and Blobel, G. (1986) 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.
5. Burke, B. and Stewart, C.L. (2002) Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol., 3, 575-585.
6. Nigg, E.A., Kitten, G.T. and Vorburger, K. (1992) Targeting lamin proteins to the nuclear envelope: the role of CaaX box modifications. Biochem. Soc. Trans., 20, 500-504.
7. Simha, V., Agarwal, A.K., Oral, E.A., Fryns, J.-P. and Garg, A. (2003) Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J. Clin. Endocrinol. Metab., 88, 2821-2824.
8. Pendas, A.M., Zhou, Z., Cadinanos, J., Freije, J.M., Wang, J., Hultenby, K., Astudillo, A., Wernerson, A., Rodriguez, F., Tryggvason, K. et al. (2002) Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat. Genet., 31, 94-99.
9. Bergo, M.O., Gavino, B., Ross, J., Schmidt, W.K., Hong, C., Kendall, L.V., Mohr, A., Meta, M., Genant, H., Jiang, Y. et al. (2002) Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect. Proc. Natl Acad. Sci. USA, 99, 13049-13054.
10. Sinensky, M., Fantle, K., Trujillo, M., McLain, T., Kupfer, A. and Dalton, M. (1994) The processing pathway of prelamin A. J. Cell Sci., 107 (Pt 1), 61-67.
11. Barton, R.M. and Worman, H.J. (1999) Prenylated prelamin A interacts with Narf, a novel nuclear protein. J. Biol. Chem., 274, 30008-30018.
12. Tam, A., Nouvet, F.J., Fujimura-Kamada, K., Slunt, H., Sisodia, S.S. and Michaelis, S. (1998) Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing. J. Cell Biol., 142, 635-649.
13. Freije, J.M., Blay, P., Pendas, A.M., Cadinanos, J., Crespo, P. and Lopez-Otin, C. (1999) Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins. Genomics, 58, 270-280.
14. Boyartchuk, V.L., Ashby, M.N. and Rine, J. (1997) Modulation of Ras and a-factor function by carboxyl-terminal proteolysis. Science, 275, 1796-1800.
15. Jones, D.T., Taylor, W.R. and Thornton, J.M. (1994) A model recognition approach to the prediction of all-helical membrane protein structure and topology. Biochemistry, 33, 3038-3049.
16. Schmidt, W.K., Tam, A. and Michaelis, S. (2000) Reconstitution of the Ste24p-dependent N-terminal proteolytic step in yeast a-factor biogenesis. J. Biol. Chem., 275, 6227-6233.
17. Schrander-Stumpel, C., Spaepen, A., Fryns, J.P. and Dumon, J. (1992) A severe case of mandibuloacral dysplasia in a girl. Am. J. Med. Genet., 43, 877-881.
18. Prasad, P.V., Padmavathy, L. and Sethurajan, S. (1998) Familial mandibuloacral dysplasia - a report of four cases. Int. J. Dermatol., 37, 614-616.
19. Danks, D.M., Mayne, V., Wettenhall, N.B. and Hall, R.K. (1974) Craniomandibular dermatodysostosis. Birth Defects Orig. Artic. Ser., 10, 99-105.
20. Welsh, O. (1975) Study of a family with a new progeroid syndrome. In Bergsma, D. (ed.), New Chromosomal and Malformation Syndromes, vol. 5. Liss, New York, pp. 25-38.
21. Parkash, H., Sidhu, S.S., Raghavan, R. and Deshmukh, R.N. (1990) Hutchinson-Gilford progeria: familial occurrence. Am. J. Med. Genet., 36, 431-433.
22. Cohen, L.K., Thurmon, T.F. and Slavaggio, J. (1973) Werner's syndrome. Cutis, 12, 76-80.
23. Ramer, J.C. and Ladda, R.L. (1990) Report of a male with features overlapping geroderma osteodysplastica and mandibuloacral dysplasia. Dysmorphol. Clin. Genet., 4, 66-78.
24. Le Merrer, M., Guillot, M., Briard, M.L. and Maroteaux, P. (1991) Lethal progeroid syndrome with osteolysis. Case report. Ann. Genet., 34, 82-84.
25. Eriksson, M., Brown, W.T., Gordon, L.B., Glynn, M.W., Singer, J., Scott, L., Erdos, M.R., Robbins, C.M., Moses, T.Y., Berglund, P. et al., (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature, 423, 293-298.
26. Cao, H. and Hegele, R.A. (2003) LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J. Hum. Genet., 48, 271-274.
27. De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C.L., Munnich, A., Le Merrer, M. et al., (2003) Lamin A truncation in Hutchinson-Gilford progeria. Science, e1084125.
28. Ng, D. and Stratakis, C.A. (2000) Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. Am. J. Med. Genet., 95, 293-295.
29. Vantrappen, G., Feenstra, L., Macours-Verelst, C. and Fryns, J.P. (2000) Mandibulo-acral dysplasia in a one-year-old boy. Genet. Couns., 11, 49-52.
30. Mumberg, D., Muller, R. and Funk, M. (1995) Yeast vectors for the controlled expression of heterologous proteins in different genetic backgrounds. Gene, 156, 119-122.
31. Trueblood, C.E., Boyartchuk, V.L., Picologlou, E.A., Rozema, D., Poulter, C.D. and Rine, J. (2000) The CaaX proteases, Afc1p and Rce1p, have overlapping but distinct substrate specificities. Mol. Cell. Biol., 20, 4381-4392.