Significant decrease in tropoelastin gene expression in fibroblasts from a Japanese Costello syndrome patient with impaired elastogenesis and enhanced proliferation

Journal of Biochemistry

Volumn 140, Issue 2, 2006, Pages 193-200

  Tatano, Yutaka ^a,d   Takahashi, Tsutomu ^b   Tsuji, Daisuke ^a,d   Takeuchi, Naohiro ^a   Tsuta, Kohji ^a   Takada, Goro ^b   Ohsawa, Mai ^c,d   Sakuraba, Hitoshi ^c,d   Itoh, Kohji ^a,d  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Costello syndrome; Elastogenesis; Lentiviral vector; Proliferation; Tropoelastin

Indexed keywords

FIBRILLIN 1; FIBULIN 5; GLYCOPROTEIN; MESSENGER RNA; PROTEIN LYSINE 6 OXIDASE; PROTEIN MAGP 1; TROPOELASTIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CELL PROLIFERATION; CHILD; COSTELLO SYNDROME; ELASTIC FIBER; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; JAPAN; LENTIVIRUS VECTOR; ONCOGENE H RAS; PATHOGENESIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CATTLE; CELL PROLIFERATION; CONNECTIVE TISSUE DISEASES; DNA, COMPLEMENTARY; ELASTIN; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; HUMANS; RNA, MESSENGER; SKIN; TRANSDUCTION, GENETIC; TROPOELASTIN;

BOS TAURUS;

EID: 33750320906     PISSN: 0021924X     EISSN: None     Source Type: Journal    
DOI: 10.1093/jb/mvj146     Document Type: Article

References (31)

1. Costello, J.M. (1971) A new syndrome. N.Z. Med. J. 74, 397
2. Costello, J.M. (1977) A new syndrome: mental subnormality and nasal papillomata. Aust. Paediatr. J. 13, 114-118
3. Fryns, J.P., Devlieger, H., Gewillig, M., Lukusa, P., and Devriendt, K. (1996) Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome. Genet. Couns. 7, 237-239
4. Johnson, J.P., Golabi, M., Norton, M.E., Rosenblatt, R.M., Feldman, G.M., Yang, S.P., Hall, B.D., Fries, M.H., and Carey, J.C. (1998) Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause. J. Pediatr. 133, 441-448
5. Costello, J.M. (1996) Costello syndrome: update on the original cases and commentary. Am. J. Med. Genet. 62, 199-201
6. Aoki, Y., Niihori, T., Kawame, H., Kurosaw, K., Ohashi, H., Tanaka, Y., Filocano, M., Kato, K., Suzuki, Y., Kure, S., and Matsubara, Y. (2005) Germline mutations in HRAS protooncogene cause Costello syndrome. Nat. Genet. 37, 1038-1040
7. Mecham, R.P. and Hauser, J. (1991) The elastic fiber in cell biology of extracellular matrix. In Cell biology of Extracellular Matrix (Hayed, E., ed.) 2nd ed., pp. 79-109, Plenum Press, New York
8. Rosenbloom, J., Abrams, W.R., and Mecham, R.P. (1993) Extracellular matrix: the elastic fiber. FASEB J. 7, 1208-1218
9. Kagan, H.M., Vaccaro, C.A., Bronson, R.E., Tang, S.S., and Brody, J.S. (1986) Ultrastructural immunolocalization of lysyl oxidase in vascular connective tissue. J. Cell Biol. 103, 1121-1128
10. Hinek, A., Wrenn, D.S., Mecham, R.P., and Barondes, S.H. (1988) The elastin receptor: a galactoside-binding protein. Science 239, 1539-1540
11. Mecham, R.P., Hinek, A., Entwistle, R., Wrenn, D.S., Griffin, G.L., and Senior, R.M. (1989) Elastin binds to a multifunctional 67-kilodalton peripheral membrane protein. Biochemistry 28, 3716-3722
12. Privitera, S., Prody, C.A., Callahan, J.W., and Hinek, A. (1998) The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein. J. Biol. Chem. 273, 6319-6326
13. Lee, B., Godfrey, M., Vitale, E., Hori, H., Mattei, M.G., Sarfarazi, M., Tsipouras, P., Ramirez, F., and Hollister, D.W. (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352, 330-334
14. Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A.D., Leppert, M., and Keating, M.T. (1993) Hemizygosity at the elastin locus in a developmental disorder, William's syndrome. Nat. Genet. 5, 11-16
15. Suzuki, Y., Sakuraba, H., and Oshima, A. (2000) β-Galactosidase deficiency (β-galactosidosis): GM1 gangliosidosis and Morquio B disease. In Metabolic Basis of Inherited Disease (Scriver, C.R., Beaudet, A., Sly, W.S., and Valle, D., eds.) 8th ed., pp. 2785-2823, McGraw-Hill, New York
16. Hinek, A., Rabinovitch, M., Keeley, F., Okamura-Oho, Y., and Callahan, J. (1993) The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase. J. Clin. Invest. 91, 1198-1205
17. Hinek, A. and Rabinovitch, M. (1994) 67-kD elastin-binding protein is a protective "companion" of extracellular insoluble elastin and intracellular tropoelastin. J. Cell Biol. 126, 563-574
18. Hinek, A., Smith, A.C., Cutiongco, E.M., Callahan, J.W., Gripp, K.W., and Weksberg, R. (2000) Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am. J. Hum. Genet. 66, 859-872
19. Hinek, A., Braun, K.R., Liu, K.R., Wang, Y., and Wight, T.N. (2004) Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients. Am. J. Pathol. 164, 119-131
20. Debelle, L. and Tamburro, A.M. (1999) Elastin: molecular description and function. Int. J. Biochem. Cell Biol. 31, 261-272
21. Kielty, C.M., Sherratt, M.J., and Shuttleworth, C.A. (2002) Elastic fibres. J. Cell Sci. 115, 2817-2828
22. Zhan, M., Pierce, R.A., Wachi, H., Mecham, R.P., and Parks, W.C. (1999) An open reading frame element mediates posttranscriptional regulation of tropoelastin and responsiveness to transforming growth factor β1. Mol. Cell Biol. 19, 7314-7326
23. Dull, T., Zufferey, R., Kelly, M., Mandel, R.J., Nguyen, M., Trono, D., and Naldini, L. (1998) A third-generation lentivirus vector with a conditional packaging system. J. Virol. 72, 8463-8671
24. Hatamochi, A., Nagayama, H., Kuroda, K., Shinkai, H., Ishikiriyama, S., Kobayashi, M., and Kobayashi, K. (2000) Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts. Dermatology 201, 366-369
25. Olsen, D.R., Fazio, M.J., Shamban, A.T., Rosenbloom, J., and Uitto, J. (1988) Cutis laxa: Reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon-1-specific oligonucleotide. J. Biol. Chem. 263, 6465-6467
26. Sephel, G.C., Byers, P.H., Holbrook, K.A., and Davidson, J.M. (1989) Heterogeneity of elastin expression in cutis laxa fibroblast strains. J. Invest. Dermatol. 93, 147-153
27. Hinek, A. and Wilson, S.E. (2000) Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am. J. Pathol. 156, 925-938
28. Mochizuki, S., Brassart, B., and Hinek, A. (2002) Signaling pathways transduced through the elastin receptor facilitate proliferation of arterial smooth muscle cells. J. Biol. Chem. 277, 44854-44863
29. Li, D.Y., Brooke, B., Davis, E.C., Mecham, R.P., Sorensen, L.K., Boak, B.B., Eichwald, E., and Keating, M.T. (1998) Elastin is an essential determinant of arterial morphogenesis. Nature 393, 276-280
30. Karnik, S.K., Brooke, B.S., Bayes-Genis, A., Sorensen, L., Wythe, J.D., Schwartz, R.S., Keating, M.T., and Li, D.Y. (2003) A critical role for elastin signaling in vascular morphogenesis and disease. Development 130, 411-423
31. Urban, Z., Riazi, S., Seidl, T.L., Katahira, J., Smoot, L.B., Chitayat, D., Boyd, C.D., and Hinek, A. (2002) Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am. J. Hum. Genet. 71, 30-44