Human Molecular Genetics, Vol 7, 1053-1057, Copyright © 1998 by Oxford University Press
M van Slegtenhorst, M Nellist, B Nagelkerken, J Cheadle, R Snell, A van den Ouweland, A Reuser, J Sampson, D Halley and P van der Sluijs
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a
mutation in either the TSC1 or TSC2 tumour suppressor gene. The disease is
characterized by a broad phenotypic spectrum that can include seizures,
mental retardation, renal dysfunction and dermatological abnormalities.
TSC2 encodes tuberin, a putative GTPase activating protein for rap1 and
rab5. The TSC1 gene was recently identified and codes for hamartin, a novel
protein with no significant homology to tuberin or any other known
vertebrate protein. Here, we show that hamartin and tuberin associate
physically in vivo and that the interaction is mediated by predicted
coiled-coil domains. Our data suggest that hamartin and tuberin function in
the same complex rather than in separate pathways.
ARTICLES
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
MGC Department of Clinical Genetics, Erasmus University, 3015GE Rotterdam, The Netherlands.
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B. Alvarez, E. Garrido, J. A. Garcia-Sanz, and A. C. Carrera Phosphoinositide 3-Kinase Activation Regulates Cell Division Time by Coordinated Control of Cell Mass and Cell Cycle Progression Rate J. Biol. Chem., July 11, 2003; 278(29): 26466 - 26473. [Abstract] [Full Text] [PDF]
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Y. Li, K. Inoki, P. Vacratsis, and K.-L. Guan The p38 and MK2 Kinase Cascade Phosphorylates Tuberin, the Tuberous Sclerosis 2 Gene Product, and Enhances Its Interaction with 14-3-3 J. Biol. Chem., April 11, 2003; 278(16): 13663 - 13671. [Abstract] [Full Text] [PDF]
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S. Momose, T. Kobayashi, H. Mitani, M. Hirabayashi, K. Ito, M. Ueda, Y.-i. Nabeshima, and O. Hino Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system Hum. Mol. Genet., November 15, 2002; 11(24): 2997 - 3006. [Abstract] [Full Text] [PDF]
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L. A. Haddad, N. Smith, M. Bowser, Y. Niida, V. Murthy, C. Gonzalez-Agosti, and V. Ramesh The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton J. Biol. Chem., November 8, 2002; 277(46): 44180 - 44186. [Abstract] [Full Text] [PDF]
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M. Nellist, B. Verhaaf, M. A. Goedbloed, A. J.J. Reuser, A. M.W. van den Ouweland, and D. J.J. Halley TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex Hum. Mol. Genet., December 1, 2001; 10(25): 2889 - 2898. [Abstract] [Full Text] [PDF]
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T. Kobayashi, O. Minowa, Y. Sugitani, S. Takai, H. Mitani, E. Kobayashi, T. Noda, and O. Hino A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice PNAS, June 28, 2001; (2001) 151033798. [Abstract] [Full Text] [PDF]
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X. Gao and D. Pan TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth Genes & Dev., June 1, 2001; 15(11): 1383 - 1392. [Abstract] [Full Text] [PDF]
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L. Pritchard, J. A. Sloane-Stanley, J. A. Sharpe, R. Aspinwall, W. Lu, V. Buckle, L. Strmecki, D. Walker, C. J. Ward, C. E. Alpers, et al. A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype Hum. Mol. Genet., November 1, 2000; 9(18): 2617 - 2627. [Abstract] [Full Text] [PDF]
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M. Caspi, R. Atlas, A. Kantor, T. Sapir, and O. Reiner Interaction between LIS1 and doublecortin, two lissencephaly gene products Hum. Mol. Genet., September 1, 2000; 9(15): 2205 - 2213. [Abstract] [Full Text] [PDF]
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A. Miloloza, M. Rosner, M. Nellist, D. Halley, G. Bernaschek, and M. Hengstschlager The TSC1 gene product, hamartin, negatively regulates cell proliferation Hum. Mol. Genet., July 22, 2000; 9(12): 1721 - 1727. [Abstract] [Full Text] [PDF]
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M. Nellist, M. A. van Slegtenhorst, M. Goedbloed, A. M. W. van den Ouweland, D. J. J. Halley, and P. van der Sluijs Characterization of the Cytosolic Tuberin-Hamartin Complex. TUBERIN IS A CYTOSOLIC CHAPERONE FOR HAMARTIN J. Biol. Chem., December 10, 1999; 274(50): 35647 - 35652. [Abstract] [Full Text] [PDF]
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P. B. Crino and E. P. Henske New developments in the neurobiology of the tuberous sclerosis complex Neurology, October 22, 1999; 53(7): 1384 - 1384. [Abstract] [Full Text] [PDF]
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M. van Slegtenhorst, S. Verhoef, A. Tempelaars, L. Bakker, Q. Wang, M. Wessels, R. Bakker, M. Nellist, D. Lindhout, D. Halley, et al. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation J. Med. Genet., April 1, 1999; 36(4): 285 - 289. [Abstract] [Full Text]
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T. Kobayashi, O. Minowa, J. Kuno, H. Mitani, O. Hino, and T. Noda Renal Carcinogenesis, Hepatic Hemangiomatosis, and Embryonic Lethality Caused by a Germ-Line Tsc2 Mutation in Mice Cancer Res., March 1, 1999; 59(6): 1206 - 1211. [Abstract] [Full Text] [PDF]
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N. Satake, T. Kobayashi, E. Kobayashi, K. Izumi, and O. Hino Isolation and Characterization of a Rat Homologue of the Human Tuberous Sclerosis 1 Gene (Tsc1) and Analysis of Its Mutations in RatRenal Carcinomas Cancer Res., February 1, 1999; 59(4): 849 - 855. [Abstract] [Full Text] [PDF]
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B. E. Clurman and P. Porter New insights into the tumor suppression function of P27Kip1 PNAS, December 22, 1998; 95(26): 15158 - 15160. [Full Text] [PDF]
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T. Goto and M. Monk Regulation of X-Chromosome Inactivation in Development in Mice and Humans Microbiol. Mol. Biol. Rev., June 1, 1998; 62(2): 362 - 378. [Abstract] [Full Text] [PDF]
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L. D. Aicher, J. S. Campbell, and R. S. Yeung Tuberin Phosphorylation Regulates Its Interaction with Hamartin. TWO PROTEINS INVOLVED IN TUBEROUS SCLEROSIS J. Biol. Chem., June 8, 2001; 276(24): 21017 - 21021. [Abstract] [Full Text] [PDF]
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T. Kobayashi, O. Minowa, Y. Sugitani, S. Takai, H. Mitani, E. Kobayashi, T. Noda, and O. Hino A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice PNAS, July 17, 2001; 98(15): 8762 - 8767. [Abstract] [Full Text] [PDF]
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