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

Toshiyuki Kobayashi, Shinji Urakami, Jeremy P. Cheadle, Richard Aspinwall, Peter Harris, Julian R. Sampson, Okio Hino

Research output: Contribution to journalArticle

33 Scopus citations

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 1a) in a CpG island was found, and core promoter activity was identified in a 242-bp region of this island. Exon 1a 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.

Original languageEnglish (US)
Pages (from-to)554-558
Number of pages5
JournalMammalian Genome
Volume8
Issue number8
DOIs
StatePublished - Aug 1997

ASJC Scopus subject areas

  • Genetics

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