ArticleProceedings of the National Academy of Sciences of the United States of America2004
A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 97 citations in OpenAlex.
- Positional cloning of rat mutant genes reveals new functions of these genes.Experimental animals · 2023Review
- Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.PLoS genetics · 2020Article
- Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.Journal of biomedical science · 2020Review
- Choosing The Right Animal Model for Renal Cancer Research.Translational oncology · 2020Review
- Renal transplantation in Birt-Hogg-Dubé syndrome: should we?BMC nephrology · 2018Article
- Review
- Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.BMC developmental biology · 2016Article
- Article
- Disruption of tubular Flcn expression as a mouse model for renal tumor induction.Kidney international · 2015Article
- Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.Nature reviews. Urology · 2015Review
- Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells.Physiological reports · 2014Article
- Birt-Hogg-Dube syndrome: clinicopathological features of the lung.Journal of clinical pathology · 2013Review
- Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription.Oncogene · 2011Article
- Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization.PloS one · 2010Article
- Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling.Molecular cancer · 2010Article
- Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.Human mutation · 2009Article
- Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2009Article
- Article
- Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein.Oncogene · 2008Article
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10 authors at 1 institution in 1 country.
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Abstract
A rat model of hereditary renal carcinoma (RC) was found in a rat colony of the Sprague-Dawley strain in Japan and named the "Nihon" rat. In heterozygotes, RCs, predominantly the clear cell type, develop from early preneoplastic lesions, which began to appear as early as 3 weeks of age, to adenocarcinomas by the age of 6 months. The Nihon rat is an example of a Mendelian dominantly inherited predisposition for development of RCs like the Eker (Tsc2 gene mutant) rat. We have previously shown that the Nihon mutation was tightly linked to genes that are located on the distal part of rat chromosome 10. The order of the genes is the Eker (Tsc2 gene (human 16p13.3)-Il3 gene-Nihon gene-Llgl1 locus- Myhse gene. 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. We found that the homozygous mutant condition was lethal at an early stage of fetal life in the rat. 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. The Nihon rat may therefore provide insights into a tumor-suppressor gene that is related to renal carcinogenesis and an animal model of human BHD syndrome.
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