| Literature DB >> 9242607 |
M van Slegtenhorst1, R de Hoogt, C Hermans, M Nellist, B Janssen, S Verhoef, D Lindhout, A van den Ouweland, D Halley, J Young, M Burley, S Jeremiah, K Woodward, J Nahmias, M Fox, R Ekong, J Osborne, J Wolfe, S Povey, R G Snell, J P Cheadle, A C Jones, M Tachataki, D Ravine, J R Sampson, M P Reeve, P Richardson, F Wilmer, C Munro, T L Hawkins, T Sepp, J B Ali, S Ward, A J Green, J R Yates, J Kwiatkowska, E P Henske, M P Short, J H Haines, S Jozwiak, D J Kwiatkowski.
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). 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.Entities:
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Year: 1997 PMID： 9242607 DOI： 10.1126/science.277.5327.805
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728