Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

Marianne Hoogeveen-Westerveld (1) , Carla Exalto (1) , Anneke Maat-Kievit (1) , Ans Van den Ouweland (1) , Dicky Halley (1) , Mark Nellist (1)

1 Department of Clinical Genetics

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the gene on chromosome 9q34, or the gene on chromosome 16p13.3. The and gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the target of rapamycin complex 1 (TORC1). Here we investigate TSC1 structure and function by analysing a series of truncated TSC1 proteins. We identify specific regions of the protein that are important for TSC1 stability, localisation, interactions and function.

Mots clés: TSC; RHEB; TORC1; S6K; GAP; tuberous sclerosis complex; TSC1; TSC2

Marianne Hoogeveen-Westerveld, Carla Exalto, Anneke Maat-Kievit, Ans Van den Ouweland, Dicky Halley, et al.. Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2010, 1802 (9), pp.774. ⟨10.1016/j.bbadis.2010.06.004⟩. ⟨hal-00608983⟩