TSC1 and TSC2 Gene Homologs in Schizosaccharomyces Pombe
Abstract
This project is focused on the TSC1 and TSC2 gene homologs in the fission yeast Schizosaccharomyces pombe (S. pombe). Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease whose manifestations can include seizures, mental retardation, autism, and tumors of the brain, heart, kidney and skin. The TSC2 gene encodes tuberin, a 200 kD protein with homology to GTPase activating protein (GAP) for Rap I. The TSC1 gene encodes hamartin, a 130 kD protein. Both TSC genes are tumor suppressor genes: germline TSC1 and TSC2 mutations are predicted to inactivate protein function, and loss of heterozygosity occurs in TSC tumors. Tuberin and/or hamartin appear to be involved in multiple cellular pathways: vesicular trafficking, signaling via the small GTPase Rap 1, cell cycle regulation, steroid hormone function, cell adhesion via the small GTPase Rho, and signaling via ribosomal protein S6 and mTOR, which regulate protein synthesis and cell growth. The in vivo importance of these different activities and their contributions to human TSC are not yet entirely understood.
Document Details
- Document Type
- Technical Report
- Publication Date
- Apr 01, 2005
- Accession Number
- ADA437667
Entities
People
- Elizabeth P Henske
Organizations
- Fox Chase Cancer Center