title: Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.
abstract: Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain reaction-single strand conformational polymorphism and direct sequence analyses demonstrated a C to T substitution in exon 1 of the CPO gene at nucleotide position 85, which lies in the putative presequence for targeting to mitochondria. This mutation changes the codon for glutamine to a termination codon at amino acid position 29. MaeI restriction analysis showed two other carriers in the family. The C-T mutation is located within a recently proposed putative alternative translation initiation codon (TIC-1), supporting that TIC-1 is the real TIC rather than TIC-2.
authors.affiliation: The Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Susa
authors.forename: M
authors.initials: M
authors.lastname: Daimon
authors.forename: H
authors.initials: H
authors.lastname: Kondo
authors.forename: M
authors.initials: M
authors.lastname: Kondo
authors.forename: K
authors.initials: K
authors.lastname: Yamatani
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
mesh_terms: D000328:Adult; D000818:Animals; D018387:Codon, Initiator; D003304:Coproporphyrinogen Oxidase / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D051379:Mice; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017094:Porphyrias, Hepatic / Q000201:enzymology* / Q000235:genetics
chemical_list: D018387:Codon, Initiator; D003304:Coproporphyrinogen Oxidase