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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Authors: Van Slegtenhorst, M  De Hoogt, R  Hermans, C  Nellist, M  Janssen, B  Verhoef, S  Lindhout, D  Van den Ouweland, A  Halley, D  Young, J  Burley, M  Jeremiah, S  Woodward, K  Nahmias, J  Fox, M  Ekong, R  Osborne, J  Wolfe, J  Povey, S  Snell, RG  Cheadle, JP  Jones, AC  Tachataki, M  Ravine, D  Sampson, JR  Reeve, MP  Richardson, P  Wilmer, F  Munro, C  Hawkins, TL  Sepp, T  Ali, JB  Ward, S  Green, AJ  Yates, JR  Kwiatkowska, J  Henske, EP  Short, MP  Haines, JH  Jozwiak, S  Kwiatkowski, DJ 
Citation: van Slegtenhorst M, etal., Science. 1997 Aug 8;277(5327):805-8.
Pubmed: (View Article at PubMed) PMID:9242607

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 identified in TSC1, 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.


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CRRD Object Information
CRRD ID: 1624196
Created: 2007-05-03
Species: All species
Last Modified: 2007-05-03
Status: ACTIVE


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