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Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Science  08 Aug 1997:
Vol. 277, Issue 5327, pp. 805-808
DOI: 10.1126/science.277.5327.805

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Abstract

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.

  • * To whom correspondence should be addressed. E-mail: kwiatkowski{at}calvin.bwh.harvard.edu

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