Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

Human Molecular Genetics

Volumn 7, Issue 6, 1998, Pages 1053-1057

  Van Slegtenhorst, Marjon ^a   Nellist, Mark ^a   Nagelkerken, Bas ^b   Cheadle, Jeremy ^c   Snell, Russell ^c   Van Den Ouweland, Ans ^a   Reuser, Arnold ^a   Sampson, Julian ^c   Halley, Dicky ^a   Van Der Sluijs, Peter ^b  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; HAMARTIN; PROTEIN; TUBERIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; GENE MUTATION; KIDNEY DISEASE; MENTAL DEFICIENCY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; SEIZURE; SKIN DISEASE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE; YEAST CELL;

ANIMALS; BINDING SITES; COS CELLS; GENETIC TECHNIQUES; HUMANS; PRECIPITIN TESTS; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEINS; REPRESSOR PROTEINS; SACCHAROMYCES CEREVISIAE; TRANSFECTION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

VERTEBRATA;

EID: 7144255533     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.6.1053     Document Type: Article

References (15)

1. Gomez, M.R. (1980) Tuberous Sclerosis, 2nd edn. Raven Press, New York.
2. Janssen, L.A.J., Sampson, J.R., van der Est, M., Deelen, W., Verhoef, S., Daniels, I., Hesseling, A., Brook-Carter, P., Nellist, M., Lindhout, D., Sandkuijl, L.A. and Halley, D.J.J. (1994) Refined localization of TSCl by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families. Hum. Genet., 94, 437-440.
3. The European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell, 75, 1305-1315.
4. Maheshwar, M., Sandford, R., Nellist, M., Cheadle, J.P., Sgotto, B., Vaudin. M. and Sampson, J.R. (1996) Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Hum. Mol. Genet., 5, 131-137.
5. Maheshwar, M., Cheadle, J.P., Jones, A.C., Myring, J., Fryer, A.E., Harris, P.C. and Sampson, J.R. (1997) The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum. Mol. Genet., 6, 1991-1996.
6. van Slegtenhorst, M., de Hoogt, R., Hermans, C, Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., van den Ouweland, A., Halley, D., Young, J., Burley, M., Jeremiah, S., Woodward, K., Nahmias, J., Fox M., Ekong, R., Osbome, J., Wolfe, J., Povey, S., Snell, R.G., Cheadle, J.P., Jones, A.C., Tachataki, M., Ravine, D., Sampson, J.R., Reeve, M.P., Richardson, P., Wilmer, F., Munro, C, Hawkins, T.L., Sepp, T., Ali, J.B.M., Ward, S., Green, A.J., Yates, J.R.W., Kwiatkowska, J., Henske, E.P., Short, M.P., Haines, J.H., Jozwiak, S. and Kwiatkowski, D.J. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science, 277, 805-807.
7. Fields, S. and Song, O. (1989) A novel genetic system to detect protein-protein interactions. Nature, 340, 245-246.
8. Lupas, A., Van Dyke, M. and Stock, M. (1991) Predicted coiled-coils from protein sequences. Science, 252, 1162-1164.
9. Lindsted, A.D., Foguet, M., Renz, M., Seelig, H.P., Glick, B.S. and Hauri, H.P. (1995) A C-terminally-anchored Golgi protein is inserted into the endoplasmic reticulum and then transported to the Golgi apparatus. Proc. Natl Acad. Sci. USA, 92, 5102-5105.
10. Qian, F, Germino, F.J., Cai, Y., Zhang, X., Somlo, S. and Germino, G.G. (1997) PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genet., 16, 179-183.
11. Tsiokas, L., Kim, E., Arnould, T., Sukhatme, V.P. and Walz, G. (1997) Homo-and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc. Natl Acad. Sci. USA, 94, 6965-6970.
12. Xiao, G.-H., Shoarinejad, F., Jin, E, Golemis, E.S. and Yeung, R.S. (1997) The TSC2 gene product, tuberin, functions as a Rab5 GTPase-activating protein (GAP) in modulating endocytosis. J. Biol. Chem., 272, 6097-6100.
13. Stenmark, H., Vitale, G., Ullrich, O. and Zerial, M. (1995) Rabaptin-5 is a direct effector of the small GTPase Rab5 in endocytic membrane fusion. Cell, 83, 423-432.
14. Klebe, R.J., Harriss, J.V., Sharp, Z.D. and Douglas, M.G. (1983) A general method for polyethylene-glycol-induced genetic transformation of bacteria and yeast. Gene, 25, 333-341.
15. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbour Laboratory Press, Cold Spring Harbour, NY.