TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

Hum Mol Genet. 2001 Dec 1;10(25):2889-98. doi: 10.1093/hmg/10.25.2889.

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures, mental retardation, renal dysfunction and dermatological abnormalities. Inactivating mutations to either of the TSC1 and TSC2 tumour suppressor genes are responsible for the disease. TSC1 and TSC2 encode two large novel proteins called hamartin and tuberin, respectively. Hamartin and tuberin interact directly with each other and it has been reported that tuberin may act as a chaperone, preventing hamartin self-aggregation and maintaining the tuberin-hamartin complex in a soluble form. In this study, the ability of tuberin to act as a chaperone for hamartin was used to investigate the tuberin-hamartin interaction in more detail. A domain within tuberin necessary for the chaperone function was identified, and the effects of TSC2 missense mutations on the tuberin-hamartin interaction were investigated to allow specific residues within the central domain of tuberin that are important for the interaction with hamartin to be pin-pointed. In addition, the results confirm that phosphorylation may play an important role in the formation of the tuberin-hamartin complex. Although mutations that prevent tuberin tyrosine phosphorylation also inhibit tuberin-hamartin binding and the chaperone function, our results indicate that only hamartin is phosphorylated in the tuberin-hamartin complex.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Binding Sites
  • COS Cells / cytology
  • Electrophoresis, Polyacrylamide Gel
  • Gene Deletion
  • Genes, Tumor Suppressor
  • Humans
  • Immunoblotting
  • Immunoenzyme Techniques
  • Molecular Chaperones
  • Mutation, Missense / genetics*
  • Phosphorylation
  • Plasmids
  • Protein Binding
  • Proteins / genetics
  • Proteins / metabolism*
  • Repressor Proteins / genetics*
  • Repressor Proteins / metabolism*
  • Transfection
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis / metabolism
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • Molecular Chaperones
  • Proteins
  • Repressor Proteins
  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins