PMID- 10029074
OWN - NLM
STAT- MEDLINE
DCOM- 19990304
LR  - 20181201
IS  - 0008-5472 (Print)
IS  - 0008-5472 (Linking)
VI  - 59
IP  - 4
DP  - 1999 Feb 15
TI  - Isolation and characterization of a rat homologue of the human tuberous sclerosis
      1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas.
PG  - 849-55
AB  - In the Eker rat, a germ-line mutation in the homologue of the human tuberous
      sclerosis gene (Tsc2) causes renal cell carcinomas (RCs) with a complete
      penetrance in all heterozygotes. Tsc2 mutations have also been found in a subset 
      of chemically induced non-Eker rat RCs. Because tuberous sclerosis patients with 
      alteration of either of the two predisposing genes (TSC1 and TSC2) show identical
      symptoms, the products of these two genes are thought to be involved in a common 
      biological pathway. In this study, to analyze the possible overlap between the
      functions of Tsc2 and Tscl gene products, we isolated and characterized a rat
      homologue of the TSC1 gene (Tsc1). The rat Tsc1 gene, which has an identical
      exon-intron structure to that of human TSC1 and is localized on rat chromosome 3,
      has been shown to encode a protein (hamartin) that is highly homologous to the
      human counterpart with an approximately 86% amino acid sequence identity. Using
      PCR-single-strand conformational polymorphism analysis, we identified two
      splicing donor site mutations in one chemically induced rat RC (1 of 15). This
      suggests that alterations of the Tsc1 gene may be involved in the development of 
      a subset of rat RCs.
FAU - Satake, N
AU  - Satake N
AD  - Department of Experimental Pathology, Cancer Institute, Tokyo, Japan.
FAU - Kobayashi, T
AU  - Kobayashi T
FAU - Kobayashi, E
AU  - Kobayashi E
FAU - Izumi, K
AU  - Izumi K
FAU - Hino, O
AU  - Hino O
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Res
JT  - Cancer research
JID - 2984705R
RN  - 0 (Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (TSC1 protein, human)
RN  - 0 (Tsc1 protein, rat)
RN  - 0 (Tuberous Sclerosis Complex 1 Protein)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - Female
MH  - Humans
MH  - Kidney Neoplasms/*genetics
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Proteins/*genetics
MH  - RNA, Messenger/analysis
MH  - Rats
MH  - Rats, Inbred F344
MH  - Tuberous Sclerosis Complex 1 Protein
MH  - Tumor Suppressor Proteins
EDAT- 1999/02/24 00:00
MHDA- 1999/02/24 00:01
CRDT- 1999/02/24 00:00
PHST- 1999/02/24 00:00 [pubmed]
PHST- 1999/02/24 00:01 [medline]
PHST- 1999/02/24 00:00 [entrez]
PST - ppublish
SO  - Cancer Res. 1999 Feb 15;59(4):849-55.