1997-08-08
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
Publication
Publication
Science , Volume 277 - Issue 5327 p. 805- 808
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 8.6kilobase 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 allale was found in a TSC- associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
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| doi.org/10.1126/science.277.5327.805, hdl.handle.net/1765/59726 | |
| Science | |
| Organisation | Department of Clinical Genetics |
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van Slegtenhorst, M., de Hoogt, R., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., … Kwiatkowski, D. (1997). Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science, 277(5327), 805–808. doi:10.1126/science.277.5327.805 |
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