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Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping
1Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue and 100th Street, New York, New York 10029-6574, USA.
Summary
Researchers isolated mouse uroporphyrinogen decarboxylase (URO-decarboxylase) cDNA, crucial for heme biosynthesis and linked to porphyria cutanea tarda. This facilitates developing a mouse model for this inherited disorder.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Porphyria cutanea tarda, the most common porphyria, results from a defect in uroporphyrinogen decarboxylase (URO-decarboxylase).
- Understanding URO-decarboxylase is key to studying heme biosynthesis and related disorders.
Purpose of the Study:
- To isolate and characterize the mouse URO-decarboxylase cDNA.
- To map the mouse Urod gene.
- To establish a foundation for a mouse model of porphyria cutanea tarda.
Main Methods:
- Isolation of mouse URO-decarboxylase cDNA from an adult liver cDNA library.
- Sequencing and analysis of the cDNA clone (pmUROD-1).
- Expression of the active enzyme in Escherichia coli.
- Genetic crosses to map the mouse Urod gene.
Main Results:
- A 1.5 kb mouse URO-decarboxylase cDNA clone (pmUROD-1) was obtained, encoding a 367-amino acid polypeptide.
- High nucleotide (87.8%) and amino acid (90.0%) identity was observed between mouse and human coding sequences.
- The mouse Urod gene was localized to Chromosome 4, showing conserved synteny with the human gene on Chromosome 1.
Conclusions:
- The isolated mouse URO-decarboxylase cDNA is authentic and functional.
- The gene mapping provides insights into conserved synteny between mouse and human genomes.
- This work enables further studies on URO-decarboxylase and the development of a mouse model for porphyria cutanea tarda.