Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

Journal of Cell Science

Volumn 121, Issue 7, 2008, Pages 969-978

  Sagelius, Hanna ^a   Rosengardten, Ylva ^a   Hanif, Mubashir ^a   Erdos, Michael R ^b   Rozell, Björn ^a   Collins, Francis S ^b   Eriksson, Maria ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Epidermal hyperplasia; Hutchinson Gilford Progeria Syndrome; K5tTA; Lamin A C; LMNA gene; Prelamin A; Progerin; Tet off system

Indexed keywords

CYTOKERATIN 5; LAMIN A; LAMIN C; TETRACYCLINE;

ADIPOCYTE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HAIR FOLLICLE; INCISOR; MALE; MOUSE; NONHUMAN; OPERON; PATHOGENESIS; PRIORITY JOURNAL; PROGERIA; SEBACEOUS GLAND DISEASE; SKIN DISEASE; SKIN FIBROSIS; TOOTH MALFORMATION; TRANSGENE; TRANSGENIC MOUSE; WILD TYPE;

ANIMALS; GENOTYPE; HAIR FOLLICLE; IMMUNOHISTOCHEMISTRY; KERATIN-5; LAMIN TYPE A; MICE; MICE, TRANSGENIC; MUTATION; PROGERIA; SKIN DISEASES;

MUS MUSCULUS;

EID: 43149117884     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: 10.1242/jcs.022913     Document Type: Article

References (41)

1. Ackerman, J. and Gilbert-Barness, E. (2002). Hutchinson-Gilford progeria syndrome: a pathologic study. Pediatr. Pathol. Mol. Med. 21, 1-13.
2. 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.
3. Bohr, V. A. (2002). DNA-related pathways defective in human premature aging. Sci. World J. 2, 1216-1226.
4. Bridger, J. M. and Kill, I. R. (2004). Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis. Exp. Gerontol. 39, 717-724.
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. Cao, K., Capell, B. C., Erdos, M. R., Djabali, K. and Collins. F. S. (2007). A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells. Proc. Natl. Acad. Sci. USA 104, 4949-4954.
7. Capell, B. C. and Collins, F. S. (2006). Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. 7, 940-952.
8. DeBusk, F. L. (1972). The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J. Pediatr. 80, 697-724.
9. Dechat, T., Shimi, T., Adam, S. A., Rusinol, A. E., Andres, D. A., Spielmann, H. P., Sinensky, M. S. and Goldman, R. D. (2007). Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging. Proc. Natl. Acad. Sci. USA 104, 4955-4960.
10. 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 300, 2055.
11. Diamond, I., Owolabi, T., Marco, M., Lam, C. and Glick, A. (2000). Conditional gene expression in the epidermis of transgenic mice using the tetracycline-regulated transactivators tTA and rTA linked to the keratin 5 promoter. J. Invest. Dermatol. 115, 788-794.
12. Erdem, N., Ganes, A. T., Avei, O. and Osma, E. (1994). A case of Hutchinson-Gilford progeria syndrome mimicking scleredema in early infancy. Dermatology 188, 318-321.
13. Eriksson, M., Ansved, T., Edstrom, L., Wells, D. J., Watt, D. J., Anvret, M. and Carey, N. (2000). Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration. J. Biol. Chem. 275, 19964-19969.
14. 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.
15. 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.
16. Fong, L. G., Ng, J. K., Meta, M., Cote, N., Yang, S. H., Stewart, C. L., Sullivan, T., Burghardt, A., Majumdar, S., Rene, K. et al. (2004). Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. Proc. Natl. Acad. Sci. USA 101, 18111-18116.
17. Fuchs, E. (1995). Keratins and the skin. Annu. Rev. Cell Dev. Biol. 11, 123-153.
18. Gillar, P. J., Kaye, C. I. and McCourt, J. W. (1991). Progressive early dermatologic changes in Hutchinson-Gilford progeria syndrome. Pediatr. Dermatol. 8, 199-206.
19. Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E., Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R. et al. (2004). Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc. Natl. Acad. Sci. USA 101, 8963-8968.
20. Gossen, M. and Bujard, H. (1992). Tight control of gene expression in mammalian cells by tetracycline-responsive promoters. Proc. Natl. Acad. Sci. USA 89, 5547-5551.
21. HogenEsch, H., Boggess, D. and Sundberg, J. P. (1999). Changes in keratin and filaggrin expression in the skin of chronic proliferative dermatitis (cpdm) mutant mice. Pathobiology 67, 45-50.
22. Hutchison, C. J., Alvarez-Reyes, M. and Vaughan, O. A. (2001). Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? J. Cell Sci. 114, 9-19.
23. Jansen, T. and Romiti, R. (2000). Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature. Pediatr. Dermatol. 17, 282-285.
24. Martin, G. M. and Oshima, J. (2000). Lessons from human progeroid syndromes. Nature 408, 263-266.
25. Moir, R. D. and Spann, T. P. (2001). The structure and function of nuclear lamins: implications for disease. Cell. Mol. Life. Sci. 58, 1748-1757.
26. Mounkes, L. C., Kozlov, S., Hernandez, L., Sullivan, T. and Stewart, C. L. (2003). A progeroid syndrome in mice is caused by defects in A-type lamin. Nature 423, 298-301.
27. 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.
28. Plasilova, M., Chattopadhyay, C., Pal, F., Schaub, N. A., Buechner, S. A., Mueller, H., Miny, P., Ghosh, A. and Heinimann, K. (2004). Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J. Med. Genet. 41, 609-614.
29. Rodriguez, J. I., Perez-Alonso, P., Funes, R. and Perez-Rodriguez, J. (1999). Lethal neonatal Hutchinson-Gilford progeria syndrome. Am. J. Med. Genet. 82, 242-248.
30. Sasseville, A. M. and Raymond, Y. (1995). Lamin A precursor is localized to intranuclear foci. J. Cell Sci. 108, 273-285.
31. Scaffidi, P. and Misteli, T. (2006). Lamin A-dependent nuclear defects in human aging. Science 312, 1059-1063.
32. Sevenants, L., Wouters, C., De Sandre-Giovannoli, A., Devlieger, H., Devriendt, K., van den Oord, J. J., Marien, K., Levy, N. and Morren, M. A. (2005). Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. Eur. J. Pediatr. 164, 283-286.
33. Stables, G. I. and Morley, W. N. (1994). Hutchinson-Gilford syndrome. J. R. Soc. Med. 87, 243-244.
34. Stuurman, N., Heins, S. and Aebi, U. (1998). Nuclear lamins: their structure, assembly, and interactions. J. Struct. Biol. 122, 42-66.
35. Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., Stewart, C. L. and Burke, B. (1999). Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J. Cell Biol. 147, 913-920.
36. Svard, J., Heby-Henricson, K., Persson-Lek, M., Rozell, B., Lauth, M., Bergstrom, A., Ericson, J., Toftgard, R. and Teglund, S. (2006). Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway. Dev. Cell 10, 187-197.
37. Varga, R., Eriksson, M., Erdos, M. R., Olive, M., Harten, L, Kolodgie, F., Capell, B. C., Cheng, J., Faddah, D., Perkins, S. et al. (2006). Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. Proc. Natl. Acad. Sci. USA 103, 3250-3255.
38. Worman, H. J. and Courvalin, J. C. (2004). How do mutations in lamins A and C cause disease? J. Clin. Invest. 113, 349-351.
39. Yang, S. H., Bergo, M. O., Toth, J. L, Qiao, X., Hu, Y., Sandoval, S., Meta, M., Bendale, P., Gelb, M. H., Young, S. G. et al. (2005). Blocking protein farnesyltranferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. Proc. Natl. Acad. Sci. USA 102, 10291-10296.
40. Yang, S. H., Meta, M., Qiao, X., Frost, D., Bauch, J., Coffinier, C., Majumdar, S., Bergo, M. O., Young, S. G. and Fong, L. G. (2006). A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. J. Clin. Invest. 116, 2115-2121.
41. Zhu, Z., Zheng, T., Lee, C. G., Homer, R. J. and Elias, J. A. (2002). Tetracycline-controlled transcriptional regulation systems: advances and application in transgenic animal modeling. Semin. Cell Dev. Biol. 13, 121-128.