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- Title
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, R G; Cheadle, J P; Jones, A C; Tachataki, M; Ravine, D; Sampson, J R; Reeve, M P; Richardson, P; Wilmer, F; Munro, C; Hawkins, T L; Sepp, T; Ali, J B; Ward, S; Green, A J; Yates, J R; Kwiatkowska, J; Henske, E P; Short, M P; Haines, J H; Jozwiak, S; Kwiatkowski, D J
- 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.
- Publication
Science (New York, N.Y.), 1997, Vol 277, Issue 5327, p805
- ISSN
0036-8075
- Publication type
Journal Article
- DOI
10.1126/science.277.5327.805