ArticleHuman genetics1993
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
Article in Human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 25 citations in OpenAlex.
- From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutiveMolecular therapy. Nucleic acids · 2026Article
- Methylmalonic and propionic acidemias: clinical management update.Current opinion in pediatrics · 2016Review
- Interactions of protein kinase CK2beta subunit within the holoenzyme and with other proteins.Molecular and cellular biochemistry · 1999Article
- Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.American journal of human genetics · 1998Article
- A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.Human genetics · 1995Article
- Mutations participating in interallelic complementation in propionic acidemia.American journal of human genetics · 1994Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Propionic acidemia is an autosomal recessive metabolic disease resulting from a deficiency of propionyl CoA carboxylase (PCC) activity. To investigate the genetic basis of propionic acidemia, we isolated a cDNA encoding the precursor of the beta subunit of human PCC (beta PCC). The cloned cDNA sequence was 1,832 bp long and the open reading frame of 1,617 nucleotides encoded a polypeptide of 539 amino acids with a molecular mass of 58,202 Da. The human beta PCC sequence shared a high degree of homology (91%) with the full-length cDNA of rat beta PCC at the amino acid level; there were only 47 differences among 539 amino acid residues compared. Polymerase chain reaction amplification and sequencing of cDNA from a beta subunit-deficient Japanese patient revealed a deletion of 101 nucleotides consisting of one exon from mature mRNA. This deletion resulted in a frameshift and a stop codon in the new frame. Analysis of the genomic DNA revealed a homozygous 8-bp deletion from bp3 to bp10 of the intron just downstream of the deleted exon. This deletion disrupted the consensus 5' splice signal and led to exon skipping.
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