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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Flcn  -  folliculin

Rattus norvegicus

Synonyms: Bhd, Birt-Hogg-Dube syndrome protein homolog, Folliculin
 
 
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High impact information on Flcn

  • We now describe a germ-line mutation in the Birt-Hogg-Dubé gene (Bhd) (human 17p11.2) caused by the insertion of a single nucleotide in the Nihon rat, resulting in a frameshift and producing a stop codon 26 aa downstream [1].
  • We detected a high frequency of loss of heterozygosity (LOH) in primary RCs (10/11) at the Bhd locus and found a point mutation (nonsense) in one LOH-negative case, fitting Knudson's "two-hit" model [1].
  • Rescue from embryonic lethality of mutant homozygotes (Nihon/Nihon) and suppression of renal carcinogenesis in heterozygotes (Nihon/+) were both observed, defining the germline Bhd mutation in the Nihon rat as an embryonal lethal and tumor predisposing mutation [2].
  • In this study, we constructed transgenic Nihon rats with introduction of a wild-type Bhd gene to ascertain whether suppression of the Nihon phenotype is possible [2].
  • Finally, we identified a germline mutation in the Birt-Hogg-Dubé gene (Bhd) (rat chromosome 10, human chromosome 17p11.2) caused by the insertion of a single nucleotide in the Nihon rat gene sequence, resulting in a frame shift and producing a stop codon 26 amino acids downstream [3].

References

  1. A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Okimoto, K., Sakurai, J., Kobayashi, T., Mitani, H., Hirayama, Y., Nickerson, M.L., Warren, M.B., Zbar, B., Schmidt, L.S., Hino, O. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Transgenic rescue from embryonic lethality and renal carcinogenesis in the Nihon rat model by introduction of a wild-type Bhd gene. Togashi, Y., Kobayashi, T., Momose, S., Ueda, M., Okimoto, K., Hino, O. Oncogene (2006) [Pubmed]
  3. Natural history of the Nihon rat model of BHD. Okimoto, K., Kouchi, M., Matsumoto, I., Sakurai, J., Kobayashi, T., Hino, O. Curr. Mol. Med. (2004) [Pubmed]
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