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New insights into the tumor suppression function of P27 Kip1

1998; National Academy of Sciences; Volume: 95; Issue: 26 Linguagem: Inglês

10.1073/pnas.95.26.15158

1091-6490

Bruce E. Clurman, Peggy L. Porter,

Renal and related cancers

Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by mental retardation, seizures, and tumors involving many organs, including the kidney, brain, heart, and skin (1). Linkage analyses identified two major disease loci on chromosomes 9 (TSC1) and 16 (TSC2), and both of these genes have been cloned (2, 3). These genes act like classic tumor suppressor genes: patients inherit a mutant germline allele and the remaining functional allele is inactivated in TSC-associated tumors (2–6). Mutations in these genes also occur in cases of sporadic TSC. The Eker rat contains a germline insertion within the rat TSC2 gene and provides an animal model for TSC (7, 8). Although the mutation is embryonic lethal when rats are homozygous, rats heterozygous for the Eker mutation develop spontaneous kidney tumors and are hypersensitive to carcinogen and radiation-induced renal carcinomas (9).