Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog

Kobayashi, Toshiyuki, Urakami, Shinji, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Aspinwall, Richard, Harris, Peter, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Hino, Okio 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8 (8) , pp. 554-558. 10.1007/s003359900502

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Abstract

Hereditary renal carcinoma in the Eker rat is an excellent example of predisposition to a specific cancer being transmitted as a dominant trait. Recently, we identified a germline mutation of the tuberous sclerosis 2 (Tsc2) gene in the Eker rat. In the present study, we analyzed the upstream region of the Tsc2 gene. A novel leader exon (exon la) in a CpG island was found, and core promoter activity was identified in a 242-bp region of this island. Exon la and the promoter region were conserved in the human TSC2 gene. In addition, a rat homolog of a gene found upstream of TSC2 in human has been identified, indicating that the genomic organization around Tsc2/TSC2 is conserved between the two species. Characterization of the 5′ region of Tsc2 and TSC2 will facilitate studies of the regulation of the gene and its disregulation in tumorigenesis.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer Verlag
ISSN:	0938-8990
Last Modified:	25 Oct 2022 10:07
URI:	https://orca.cardiff.ac.uk/id/eprint/61198

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