title: Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
abstract: 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.
authors.affiliation: MGC Department of Clinical Genetics, Erasmus University, 3015GE Rotterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: van Slegtenhorst
authors.forename: M
authors.initials: M
authors.lastname: Nellist
authors.forename: B
authors.initials: B
authors.lastname: Nagelkerken
authors.forename: J
authors.initials: J
authors.lastname: Cheadle
authors.forename: R
authors.initials: R
authors.lastname: Snell
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: A
authors.initials: A
authors.lastname: Reuser
authors.forename: J
authors.initials: J
authors.lastname: Sampson
authors.forename: D
authors.initials: D
authors.lastname: Halley
authors.forename: P
authors.initials: P
authors.lastname: van der Sluijs
mesh_terms: D000818:Animals; D001665:Binding Sites; D019556:COS Cells; D005821:Genetic Techniques; D006801:Humans; D011233:Precipitin Tests; D011485:Protein Binding; D011487:Protein Conformation; D011506:Proteins / Q000235:genetics / Q000378:metabolism*; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism*; D012441:Saccharomyces cerevisiae; D014162:Transfection; D014402:Tuberous Sclerosis / Q000235:genetics / Q000378:metabolism*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D011506:Proteins; D012097:Repressor Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins