Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays

Gene Expression

Volumn 12, Issue 1, 2004, Pages 39-47

  Amati, Francesca ^a   Biancolella, Michela ^a   D'Apice, Maria Rosaria ^a   Gambardella, Stefano ^a   Mango, Ruggiero ^a   Sbraccia, Paolo ^a   D'Adamo, Monica ^a   Margiotti, Katia ^a   Nardone, Annamaria ^a   Lewis, Marc ^a   Novelli, Giuseppe ^a,b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Lamin A C; Mandibuloacral dysplasia; Microarray; QRT PCR

Indexed keywords

LAMIN A; LAMIN C;

ACROOSTEOLYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL ADHESION; CELL CYCLE; CELL METABOLISM; CONTROLLED STUDY; DNA MICROARRAY; FIBROBLAST CULTURE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; JOINT CONTRACTURE; LIPODYSTROPHY; MANDIBLE HYPOPLASIA; MANDIBULOACRAL DYSPLASIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PLEIOTROPY; POIKILODERMA; PROTEIN FUNCTION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSCRIPTION INITIATION; UNINDEXED SEQUENCE;

EID: 4544361858     PISSN: 10522166     EISSN: None     Source Type: Journal    
DOI: 10.3727/000000004783992189     Document Type: Article

References (28)

1. Agarwal, A. K.; Fryns, J. P.; Auchus, R. J.; Garg, A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum. Mol. Genet. 12:1995-2001; 2003.
2. Bonne, G.; Di Barletta, M. R.; Varnous, S.; Becane, H. M.; Hammouda, E. H.; Merlini, L.; Muntoni, F.; Greenberg, C. R.; Gary, F.; Urtizberea, J. A.; Duboc, D.; Fardeau, M.; Toniolo, D.; Schwartz, K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21:285-288; 1999.
3. Burke, B.; Stewart, C. L. Life at the edge: The nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 3:575-585; 2002.
4. Cao, H.; Hegele, R. A. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet. 9:109-112; 2000.
5. Chen, L.; Lee, L.; Kudlow, B. A.; Dos Santos, H. G.; Sletvold, O.; Shafeghati, Y.; Botha, E. G.; Garg, A.; Hanson, N. B.; Martin, G. M.; Mian, I. S.; Kennedy, B. K.; Oshima, J. LMNA mutations in atypical Werner's syndrome. Lancet 362:440-445; 2003.
6. Curto, E. V.; Lambert, G. W.; Davis, R. L.; Wilborn, T. W.; Dooley, T. P. Biomarkers of human skin cells identified using DermArray DNA arrays and new bioinformatics methods. Biochem. Biophys. Res. Commun. 29:1052-1064; 2002.
7. Defeo-Jones, D.; Huang, P. S.; Jones, R. E.; Haskell, K. M.; Vuocolo, G. A.; Hanobik, M. G.; Huber, H. E.; Oliff, A. Cloning of cDNAs for cellular proteins that bind to the retinoblastoma gene product. Nature 352: 251-254; 1991.
8. Del Sal, G.; Ruaro, M. E.; Philipson, L.; Schneider, C. The growth arrest-specific gene, gas1, is involved in growth suppression. Cell 70:595-607; 1992.
9. De Sandre-Giovannoli, A.; Bernard, R.; Cau, P.; Navarro, C., Amiel, J.; Boccaccia, I.; Lyonnet, S.; Stewart, C. L.; Munnich, A.; Le Merrer, M.; Levy, N. Lamin a truncation in Hutchinson-Gilford progeria. Science 300:2055; 2003.
10. De Sandre-Giovannoli, A.; Chaouch, M.; Kozlov, S.; Vallat, J. M.; Tazir, M.; Kassouri, N.; Szepetowski, P.; Hammadouche, T.; Vandenberghe, A.; Stewart, C. L.; Grid, D.; Levy, N. 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; 2002.
11. 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.; Dutra, A.; Pak, E.; Durkin, S.; Csoka, A. B.; Boehnke, M.; Glover, T. W.; Collins, F. S. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293-298; 2003.
12. Fatkin, D.; MacRae, C.; Sasaki, T.; Wolff, M. R.; Porcu, M.; Frenneaux, M.; Atherton, J.; Vidaillet, H. J.; Spudich, S.; De Girolami, U.; Seidman, J. G.; Seidman, C.; Muntoni, F.; Muehle, G.; Johnson, W.; McDonough, B. 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; 1999.
13. Hutchison, C. J. Lamins: Building blocks or regulators of gene expression? Nat. Rev. Mol. Cell. Biol. 3:848-858; 2002.
14. Judge, D. P.; Rhys, C. M. J.; Guerrerio, J.; Geubtner, J.; Zhang, J.; Cheng, A.; Dietz, H. C. 53rd Annual Meeting ASHG (P18, p. 165); 2003.
15. Lai, A.; Lee, J. M.; Yang, W-M.; DeCaprio, J. A.; Kaelin, W. G., Jr.; Seto, E.; Branton, P. E. RBP1 recruits both histone deacetylase-dependent and independent repression activities to retinoblastoma family proteins. Mol. Cell. Biol. 19:6632-6641; 1999.
16. Lammerding, J.; Schulze, P. C.; Takahashi, T.; Kozlov, S.; Sullivan, T.; Kamm, R. D.; Stewart, C. L.; Lee, R. T. Lamin AJC deficiency causes defective nuclear mechanics and mechanotransduction. J. Clin. Invest. 113:370-378; 2004.
17. LeRoy, E. C. Increased collagen synthesis by scleroderma skin fibroblasts in vitro: A possible defect in the regulation of activation of the scleroderma fibroblast. J. Clin. Invest. 54:880-889; 1974.
18. Markiewicz, E.; Dechat, T.; Foisner, R.; Quinlan, R. A.; Hutchison, C. J. Lamin A/C binding protein LAP2 is required for nuclear anchorage of retinoblastoma protein. Mol. Biol. Cell. 13:4401-4413; 2002.
19. Muchir, A.; Bonne, G.; van der Kooi, AJ.; van Meegen, M.; Baas, F.; Bolhuis, P. A.; de Visser, M.; Schwartz, K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB). Hum. Mol. Genet. 9: 1453-1499; 2000.
20. Novelli, G.; Muchir, A.; Sangiuolo, F.; Helbling-Leclerc, A.; D'Apice, M. R.; Massart, C.; Capon, F.; Sbraccia, P.; Federici, M.; Lauro, R.; Tudisco, C.; Pallotta, R.; Scarano, G.; Dallapiccola, B.; Merlini, L.; Bonne, B. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am. J. Hum. Genet. 71:426-431; 2002.
21. Novelli, G.; D'Apice, M. R. The strange case of the "lumper" laminA/C gene and the human premature ageing. Trends Mol. Med. 9:370-375; 2003.
22. Pendas, A. M.; Zhou, Z.; Cadinanos, J.; Freije, J. M.; Wang, J.; Hultenby, K.; Astudillo, A.; Wernerson, A.; Rodriguez, F.; Tryggvason, K.; Lopez-Otin, C. Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat. Genet. 31:94-99; 2002.
23. Raffaele Di Barletta, M.; Ricci, E.; Galluzzi, G.; Tonali, P.; Mora, M.; Morandi, L.; Romorini, A.; Voit, T.; Orstavik, K. H.; Merlini, L.; Trevisan, C.; Biancalana, V.; Housmanowa-Petrusewicz, I.; Bione, S.; Ricotti, R.; Schwartz, K.; Bonne, G.; Toniolo, D. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 66:1407-1412; 2000.
24. Russell, L.; Forsdyke, D. R. A human putative lymphocyte G0/G1 switch gene containing a CpG-rich island encodes a small basic protein with the potential to be phosphorylated. DNA Cell Biol. 10:581-591; 1991.
25. Shelton, D. N.; Chang, E.; Whittier, P. S.; Choi, D.; Funk, W. D. Microarray analysis of replicative senescence. Curr. Biol. 9:939-945; 1999.
26. Takeda, U.; Utani, A.; Wu, J.; Adach, E.; Koseki, H.; Taniguchi, M.; Matsumoto, T.; Ohashi, T.; Sato, M.; Shinkai, H. Targeted disruption of dermatopontin causes abnormal collagen fibrillogenesis. J. Invest. Dermatol. 119:678-683; 2002.
27. Williams, R. R. Transcription and the territory: The ins and outs of gene positioning. Trends Genet. 19:298-302; 2003.
28. Zhang, J.; Kalkum, M.; Chait, B. T.; Roeder, R. G. The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2. Mol. Cell 9:611-623; 2002.