Mammalian Genome

, Volume 8, Issue 8, pp 554–558 | Cite as

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
Original Contribution


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.


Core Promoter Transcriptional Start Site Translational Initiation Codon Primer Extension Analysis Tsc2 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1997

Authors and Affiliations

  • Toshiyuki Kobayashi
    • 1
  • Shinji Urakami
    • 1
  • Jeremy P. Cheadle
    • 2
  • Richard Aspinwall
    • 3
  • Peter Harris
    • 3
  • Julian R. Sampson
    • 2
  • Okio Hino
    • 1
  1. 1.Department of Experimental PathologyCancer InstituteToshima-kuJapan
  2. 2.Institute of Medical GeneticsUniversity of Wales College of MedicineHealth ParkUK
  3. 3.John Radcliffe HospitalInstitute of Molecular MedicineHeadingtonUK

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