ArticleProceedings of the National Academy of Sciences of the United States of America1992
Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 65 citations in OpenAlex.
- Using CRISPR/Cas9 to model human liver disease.JHEP reports : innovation in hepatology · 2019Review
- Rapid Disruption of Genes Specifically in Livers of Mice Using Multiplex CRISPR/Cas9 Editing.Gastroenterology · 2018Article
- Validation of a multi-omics strategy for prioritizing personalized candidate driver genesOncotarget · 2016Article
- Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells.Journal of inherited metabolic disease · 2002Review
- Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Therapeutic trials in the murine model of hereditary tyrosinaemia type I: a progress report.Journal of inherited metabolic disease · 1998Article
- Molecular characterization of four induced alleles at the Ednrb locus.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- Abnormal glutathione conjugation in patients with tyrosinaemia type I.Journal of inherited metabolic disease · 1997Article
- Transcriptional regulation of genes for ornithine cycle enzymes.The Biochemical journal · 1995Review
- Fungal metabolic model for human type I hereditary tyrosinaemia.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Genetic and physical mapping of the fitness 1 (fit1) locus within the Fes-Hbb region of mouse chromosome 7.Mammalian genome : official journal of the International Mammalian Genome Society · 1995Article
- Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.Journal of inherited metabolic disease · 1995Article
- Molecular genetics of the brown (b)-locus region of mouse chromosome 4. II. Complementation analyses of lethal brown deletions.Genetics · 1994Article
- Mouse homologues of human hereditary disease.Journal of medical genetics · 1994Review
- Molecular analysis of radiation-induced albino (c)-locus mutations that cause death at preimplantation stages of development.Genetics · 1993Article
- Article
- N-ethyl-N-nitrosourea-induced prenatally lethal mutations define at least two complementation groups within the embryonic ectoderm development (eed) locus in mouse chromosome 7.Mammalian genome : official journal of the International Mammalian Genome Society · 1993Article
- Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.The Journal of clinical investigation · 1992Article
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3 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Homozygous deletion of the hepatocyte-specific developmental regulation 1 (hsdr-1) locus in mouse chromosome 7 results in perinatal death and a pleiotropic syndrome characterized by ultrastructural abnormalities of the liver and kidney, failure of induction of a number of specific transcription units in the liver and kidney during late gestation, and marked overexpression of an enzyme that defends against oxidative stress. Previously, the breakpoints of two albino (c) deletions (c14CoS and c1FAFyh) that genetically define hsdr-1 were localized, on a long-range map, in the vicinity of the distal breakpoint of a viable albino deletion (c24R75M) that breaks proximally within the c locus. Here we report the use of a probe derived from a deletion breakpoint fusion fragment cloned from c24R75M/c24R75M DNA to clone a breakpoint fusion fragment caused by the c14CoS deletion. The proximal breakpoint of the c14CoS deletion was discovered to disrupt a gene (Fah) encoding fumarylacetoacetate hydrolase, the last enzyme in the tyrosine degradation pathway. All of the extant c deletions eliciting the hsdr-1 phenotype prevent expression of the Fah gene in the liver, and all but one disrupt the coding segment of the gene. Therefore, the Fah gene maps within or proximal to the hsdr-1 locus, as defined by deletion breakpoints, and disruption of this gene may be partially or completely responsible for the phenotypes associated with the hsdr-1 deletion syndrome. These mouse mutants may also provide models for the human genetic disorder hereditary tyrosinemia, which is associated with fumarylacetoacetate hydrolase deficiency and liver and kidney dysfunction.
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