[The results of recent research in neurocutaneous syndromes].
Identification of NF1, TSC2 and TSC1 genes has enabled us to focus on their function and regulation. Evidence suggests that these genes are tumor suppressor genes. Malignant tissues in NF1 and hamartomatous tissues in TSC show "loss of heterozygosity" in NF1 and TSC1, 2 genes, respectively. In addition, in the Eker rat with hereditary renal carcinoma, a mutation in the TSC2 gene has been identified. In this review I mentioned briefly several issues to be clarified in the near future.
Ohno
K
K
Department of Neurobiology, School of Life Sciences, Tottori University Faculty of Medicine, Yonago.
D000818:Animals; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D051381:Rats; D012097:Repressor Proteins / Q000235:genetics; D013341:Sturge-Weber Syndrome / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D006623:von Hippel-Lindau Disease / Q000235:genetics*
D011506:Proteins; D012097:Repressor Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; C000624652:Tsc1 protein, rat; C000624655:Tsc2 protein, rat; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins