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© 1994 Oxford University Press

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Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria

Hiroyoshi Fujita, Masao Kondo1, Shigeru Taketani2, Nakao Nomura3, Kazumichi Furuyama, Relko Akagi3, Tadashi Nagai3, Masanori Terajima, Richard A. Galbraith3 and Shigeru Sassa3,*

Tohoku University School of Medicine Sendai 980–77 1National Institute of Public Health Tokyo 108 2Kansai Medical University Osaka 570, Japan 3The Rockefeller University New York, NY 10021, USA

*To whom correspondence should be addressed

Received June 6, 1994; Revised August 5, 1994; Accepted August 5, 1994

Hereditary coproporphyria (HCP) is an acute hepatic porphyria with autosomal dominant inheritance, but with a variable degree of clinical expression. Molecular cloning, sequencing and expression of the defective gene for coproporphyrinogen oxidase (CPO) in a patient with HCP were carried out. Enzyme assays revealed that CPO activity in EBV-transformed lymphoblastoid cells from the proband and one of her sisters was {approx} 50% of normal. Nucleotide sequence analysis of CPO cDNAs isolated from the proband's cells demonstrated three base substitutions, and three accompanying amino acid substitutions. An A514 -> C transition causing a Asn172 -> His substitution occurred in one allele, while two other transitions, G265 -> A and G580 -> A, caused Gly89 -> Ser and Val194 -> Ile substitutions, respectively, in the other allele. The A514 -> C and the G580 -> A transitions are known genetic polymorphisms. Transfection of CPO cDNA into Escherichia coli demonstrated that cDNA with the G265 -> A transition produced a protein with less than 5% of normal enzyme activity. These findings indicate that the G265 -> A transition, involving the highly conserved glycine residue at the 89th position, is responsible for the CPO defect in the patient and accounts for the partial deficiency of CPO activity in this pedigree.


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