Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice.
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Mice homozygous for albino deletions encompassing the locus alf/hsdr-1 die shortly after birth. Lethality is thought to be the consequence of hypoglycemia, which results from the failure to activate hormone-dependent genes in liver and kidney encoding enzymes important for gluconeogenesis. Within the region in which alf/hsdr-1 has been defined by physical mapping, we identified the gene encoding fumarylacetoacetate hydrolase (FAH), an enzyme of tyrosine metabolism. Lack of FAH activity should lead to accumulation of toxic tyrosine metabolites. In man, genetically determined FAH deficiency is the primary defect in tyrosinemia type I, a fatal liver disease of infants. Northern blot and in situ hybridization analysis of mouse tissues showed that the cell types that normally express FAH correspond to those that exhibit a phenotype in alf/hsdr-1 deletion mice. Moreover, we could mimic aspects of the alf/hsdr-1 deletion phenotype in vitro by treating primary hepatocyte cultures with an intermediate of tyrosine metabolism. These findings strongly suggest that alf/hsdr-1 encodes FAH and that absence of FAH is responsible for neonatal lethality in albino deletion mice. Mechanisms by which this metabolic defect might bring about alterations in gene expression characteristic of the alf/hsdr-1 deletion phenotype are discussed.
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The gene encoding fumarylacetoacetate hydrolase (Fah) maps to the same deletion interval as the c14Cos defect.
“The gene encoding fumarylacetoacetate hydrolase (Fah), a metabolic enzyme that catalyzes the last step of tyrosine catabolism, also maps to the same deletion interval.”
From Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice (1993) · cites this paper as Ruppert et al. 1992
The c14Cos deletion disrupts the Fah gene.
“The c¹4Cos deletion was shown to disrupt the Fah gene, and Fah is expressed primarily in liver and kidney, beginning at day 16 as had been predicted for the alf/ hsdr-1 gene.”
From Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice (1993) · cites this paper as Ruppert et al. 1992
Fah is expressed primarily in liver and kidney, beginning at day 16 as predicted for the alf/hsdr-1 gene.
“The c¹4Cos deletion was shown to disrupt the Fah gene, and Fah is expressed primarily in liver and kidney, beginning at day 16 as had been predicted for the alf/ hsdr-1 gene.”
From Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice (1993) · cites this paper as Ruppert et al. 1992
Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney.
“Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney.”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [24]
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- Authors
- Ruppert, S., Kelsey, G., Schedl, A., Schmid, E., Thies, E., & Schütz, G.
- Affiliations
- German Cancer Research Center (DE)
- Venue
- Genes & Development
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 1992-08
- Volume
- 6
- Issue
- 8
- Pages
- 1430-1443
- ISSN
- 0890-9369 (ISSN-L)
- 1549-5477
- OpenAlex
- W2146017235
- Cited by
- 95
- References
- 74
- Citations by year
- 2025: 1 · 2022: 2 · 2021: 2 · 2020: 1 · 2019: 4 · 2018: 3 · 2017: 5 · 2016: 1 · 2015: 1 · 2014: 3 · 2013: 1 · 2012: 1
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genes & Development (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Case Western Reserve University
- Deutsche Forschungsgemeinschaft (SFB229)
- Leibniz-Gemeinschaft
- Oak Ridge National Laboratory
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Keywords
- fumarylacetoacetate hydrolase, tyrosine metabolism, tyrosinemia type I, neonatal lethality, hypoglycemia, gluconeogenesis, gene expression regulation, hepatocytes, enzyme deficiency
- MeSH terms
- Amino Acid Sequence, Animals, Base Sequence, Cells, Cultured, Homozygote, Hydrolases, Liver, Mice, Inbred Strains, Molecular Sequence Data, Nucleic Acid Hybridization, Phenotype, Tyrosine, Blotting, Southern, Blotting, Northern, DNA Probes, Gene Expression, Mice
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