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

• Published in: Mammalian genome Vol. 8; no. 8; pp. 554 - 558
• Main Authors: Kobayashi, T, Urakami, S, Cheadle, J P, Aspinwall, R, Harris, P, Sampson, J R, Hino, O
• Format: Journal Article
• Language: English
• Published: United States Springer Nature B.V 01.08.1997
• Subjects: Animals; Base Sequence; Conserved Sequence - genetics; CpG islands; CpG Islands - genetics; Exons - genetics; Gene Expression Regulation - genetics; Genes; Genetics; Humans; Kidney Neoplasms - genetics; Molecular Sequence Data; Polymerase Chain Reaction; Promoter Regions, Genetic - genetics; Rats; Rats, Mutant Strains - genetics; Repressor Proteins - chemistry; Repressor Proteins - genetics; Sequence Analysis, DNA; Sequence Homology, Nucleic Acid; Transfection - genetics; TSC2 gene; Tuberous sclerosis; Tuberous Sclerosis - genetics; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins; Tumorigenesis
• ISSN: 0938-8990; 1432-1777
• DOI: 10.1007/s003359900502

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.