Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
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.
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PART, AD, and CTE all show a balanced 3R/4R tauopathy, prominent neuropil threads, and ready detection with CP13, MC1, and p62 antibodies.
“Finally, PART, AD, and CTE all show a balanced 3R/4R tauopathy, prominent neuropil threads, and ready detection with CP13, MC1, and p62 antibodies [14, 20, 24]”
From Tuberous sclerosis complex is associated with a novel human tauopathy (2023) · cites this paper as [24]
TSC2 contains a domain with homology to Rap1-GAP and forms a complex in vivo with TSC1, mediated by predicted coiled-coil domains at the TSC1 C terminus and the TSC2 N terminus.
“TSC2 contains a domain with homology to Rap 1-GAP (van Slegtenhorst et al., 1997), and forms a complex in vivo with TSC1, mediated by predicted coiled-coil domains at the TSC1 C terminus and the TSC2 N terminus (van Slegtenhorst et al., 1998; Nellist et al., 1999) (Fig. 5A).”
From Signal integration in the (m)TORC1 growth pathway (2018) · cites this paper as van Slegtenhorst et al., 1997
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- Authors
- Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., 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. M., Ward, S., Green, A. J., Yates, J. R. W., Kwiatkowska, J., Henske, E. P., Short, M. P., Haines, J. H., Jozwiak, S., & Kwiatkowski, D. J.
- Affiliations
- Erasmus MC (NL)
- The TSC1 Consortium:
- Corresponding author
- Kwiatkowski, David J.
- ORCID
- Venue
- Science
- Published
- 1997-08-08
- Volume
- 277
- Issue
- 5327
- Pages
- 805-808
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2171884143
- Cited by
- 1,648
- References
- 47
- Citations by year
- 2026: 10 · 2025: 39 · 2024: 37 · 2023: 47 · 2022: 40 · 2021: 53 · 2020: 48 · 2019: 36 · 2018: 66 · 2017: 71 · 2016: 58 · 2015: 79 · 2014: 64 · 2013: 70 · 2012: 67
- FWCI
- 35.40
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- tuberous sclerosis complex, TSC1 gene, hamartin, chromosome 9q34, TSC2 gene, hamartoma, truncating mutations, somatic mutations, tumor suppressor, renal carcinoma, gene mapping
- MeSH terms
- Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Amino Acid Sequence, Chromosome Mapping, Chromosomes, Human, Pair 9, Exons, Humans, Molecular Sequence Data, Molecular Weight, Mutation, Proteins, Repressor Proteins, Tuberous Sclerosis, Polymerase Chain Reaction, Genes, Tumor Suppressor, Microsatellite Repeats, Tumor Suppressor Proteins
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