Tuberin-heterozygous cell line TSC2ang1 as a model for tuberous sclerosis-associated skin lesions

International Journal of Molecular Medicine

Volumn 21, Issue 2, 2008, Pages 245-250

  Wlodarski, Pawel K ^a   Maksym, Radoslaw ^a   Oldak, Monika ^a   Jozwiak, Sergiusz ^b   Wojcik, Andrzej ^c,d   Jozwiak, Jaroslaw ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c INSTITUTE OF NUCLEAR CHEMISTRY AND TECHNOLOGY   (Poland)

^d JAN KOCHANOWSKI UNIVERSITY   (Poland)

Author keywords

Cell line; Skin lesions; TSC2ang1; Tuberous sclerosis

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; RAPAMYCIN; TUBERIN;

ANIMAL CELL; ARTICLE; CELL CULTURE; CELL LINE; CELL PROLIFERATION; CHO CELL; CHROMOSOMAL INSTABILITY; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE MODEL; ENZYME ACTIVATION; ENZYME INHIBITION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; KARYOTYPING; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SARCOMA CELL; SKIN DEFECT; TUBEROUS SCLEROSIS;

EID: 38949150374     PISSN: 11073756     EISSN: None     Source Type: Journal    
DOI: 10.3892/ijmm.21.2.245     Document Type: Article

References (32)

1. van Slegtenhorst M, de Hoogt R, Hermans C, et al: Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277: 805-808, 1997.
2. European Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75: 1305-1315, 1993.
3. Inoki K, Li Y, Zhu T, Wu J and Guan KL: TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 4: 648-657, 2002.
4. Roux PP, Ballif BA, Anjum R, Gygi SP and Blenis J: Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase. Proc Natl Acad Sci USA 101: 13489-13494, 2004.
5. Jozwiak J, Jozwiak S, Grzela T and Lazarczyk M: Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway. Neuromolecular Med 7: 287-296, 2005.
6. Sonenberg N and Pause A: Signal transduction. Protein synthesis and oncogenesis meet again. Science 314: 428-429, 2006.
7. Kimball SR, Shantz LM, Horetsky RL and Jefferson LS: Leucine regulates translation of specific mRNAs in L6 myoblasts through mTOR-mediated changes in availability of eIF4E and phosphorylation of ribosomal protein S6. J Biol Chem 274: 11647-11652, 1999.
8. Takuwa N, Fukui Y and Takuwa Y: Cyclin D1 expression mediated by phosphatidylinositol 3-kinase through mTOR-p70 (S6K)-independent signaling in growth factor-stimulated NIH 3T3 fibroblasts. Mol Cell Biol 19: 1346-1358, 1999.
9. Mamane Y, Petroulakis E, LeBacquer O and Sonenberg N: mTOR, translation initiation and cancer. Oncogene 25: 6416-6422, 2006.
10. Henske EP, Wessner LL, Golden J, et al: Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol 151: 1639-1647, 1997.
11. Jozwiak S, Dabora S, Kasprzyk-Obara J, Domanska-Pakiela D and Grajkowska W: Tests for loss of heterozygosity in tuberous sclerosis. Przegl Lek 58 (Suppl 1): 12-15, 2001.
12. Knowles MA, Habuchi T, Kennedy W and Cuthbert-Heavens D: Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladder. Cancer Res 63: 7652-7656, 2003.
13. Meikle L, McMullen JR, Sherwood MC, et al: A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. Hum Mol Genet 14: 429-435, 2005.
14. Jansen FE, Notenboom RG, Nellist M, et al: Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber. Neurology 63: 1293-1295, 2004.
15. Mizuguchi M, Ikeda K and Takashima S: Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. Acta Neuropathol 99: 503-510, 2000.
16. Tabuchi S, Takigawa H, Oka A, Mizuguchi M, Horie Y and Watanabe T: Subependymal giant cell astrocytoma with positive tuberin expression - case report. Neurol Med Chir 43: 616-618, 2003.
17. Jozwiak J, Grajkowska W, Kotulska K, et al: Brain tumor formation in tuberous sclerosis depends on Erk activation. Neuromolecular Med (In press).
18. Gera JF, Mellinghoff IK, Shi Y, et al: AKT activity determines sensitivity to mammalian target of rapamycin (mTOR) inhibitors by regulating cyclin D1 and c-myc expression, J Biol Chem 279: 2737-2746, 2004.
19. Onda H, Lueck A, Marks PW, Warren HB and Kwiatkowski DJ: Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest 104: 687-695, 1999.
20. Wlodarski P, Kasprzycka M, Liu X, et al: Activation of mammalian target of rapamycin in transformed B lymphocytes is nutrient dependent but independent of Akt, mitogen-activated ptotein kinase/extracellular signal-regulated kinase kinase, insulin growth factor-I, and serum. Cancer Res 65: 7800-7808, 2005.
21. Sabatini DM, Erdjument-Bromage H, Lui M, Tempst P and Snyder SH: RAFT1: a mammalian protein that binds to FKBP12 in a rapamycin-dependent fashion and is homologous to yeast TORs. Cell 78: 35-43, 1994.
22. Kitamura T, Ogawa W, Sakaue H, et al: Requirement for activation of the serine-threonine kinase Akt (protein kinase B) in insulin stimulation of protein synthesis but not of glucose transport. Mol Cell Biol 18: 3708-3717, 1998.
23. McCoy MS, Bargmann CI and Weinberg RA: Human colon carcinoma Ki-ras2 oncogene and its corresponding protooncogene. Mol Cell Biol 4: 1577-1582, 1984.
24. Burnett PE, Barrow RK, Cohen NA, Snyder SH and Sabatini DM: RAFT1 phosphorylation of the translational regulators p70 S6 kinase and 4E-BP1. Proc Natl Acad Sci USA 95: 1432-1437, 1998.
25. Govindarajan B, Mizesko MC, Miller MS, et al: Tuberous sclerosis-associated neoplasms express activated p42/44 mitogen-activated protein (MAP) kinase, and inhibition of MAP kinase signaling results in decreased in vivo tumor growth. Clin Cancer Res 9: 3469-3475, 2003.
26. Ma L, Chen Z, Erdjument-Bromage H, Tempst P and Pandolfi PP: Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis. Cell 121: 179-193, 2005.
27. Shahbazian D, Roux PP, Mieulet V, et al: The mTOR/PI3K and MAPK pathways converge on eIF4B to control its phosphorylation and activity. EMBO J 25: 2781-2791, 2006.
28. Barylko B, Wlodarski P, Binns DD, et al: Analysis of the catalytic domain of phosphatidylinositol 4-kinase type II. J Biol Chem 277: 44366-44375, 2002
29. Franz DN, Leonard J, Tudor C, et al: Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 59: 490-498, 2006.
30. Telfeian AE, Judkins A, Younkin D, Pollock AN and Crino P: Subependymal giant cell astrocytoma with cranial and spinal metastases in a patient with tuberous sclerosis. Case report. J Neurosurg 100: 498-500, 2004.
31. Castro-Munozledo F: Development of a spontaneous permanent cell line of rabbit corneal epithelial cells that undergoes sequential stages of differentiation in cell culture. J Cell Sci 107: 2343-2351, 1994.
32. Negrel R, Rampal P, Nano JL, Cavenel C and Ailhaud G: Establishment and characterization of an epithelial intestinal cell line from rat fetus. Exp Cell Res 143: 427-437, 1983.