Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

M Slegtenhorst, R Hoogt, C Hermans, M Nellist… - Science, 1997 - science.org
M Slegtenhorst, R Hoogt, C Hermans, M Nellist, B Janssen, S Verhoef, D Lindhout…
Science, 1997science.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
widespread development of distinctive tumors termed hamartomas. TSC-determining loci
have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was
identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1
transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has
homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). TheTSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified inTSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
AAAS