Skip to main content
SpringerLink
Log in

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene

  • Short Communication
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

Propionic acidemia is an inborn error of organic acid metabolism caused by a deficiency of propionyl Coenzyme A (CoA) carboxylase. cDNAs sequenced from a β subunit deficient Japanese patient (no. 187) showed an in-frame 57-bp deletion in one allele. Genomic DNA analysis revealed a four-nucleotide deletion of bases 3 to 6 in the 3′ intron adjacent to the deleted exon, which disrupted the consensus 5′ splice signal and caused exon skipping. This deletion removed one-half of a tetranucleotide direct repeat at the splice junction and presumably resulted from slipped mispairing.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Goodall GJ, Johannssen W, Wallace JC, Keech DB (1985) Sheep liver propionyl-CoA carboxylase: Purification and some molecular properties. Ann NY Acad Sci 447:396–397

    Google Scholar 

  • Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425–441

    Google Scholar 

  • Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41–54

    CAS  PubMed  Google Scholar 

  • Ohura T, Miyabayashi S, Narisawa K, Tada K (1991) Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. Hum Genet 87:41–44

    Google Scholar 

  • Ohura T, Narisawa K, Tada K (1993a) Propionic acidemia: sequence analysis of mutant mRNAs from Japanese β subunit deficient patients. J Inherited Metab Dis 16:863–867

    Google Scholar 

  • Ohura T, Ogasawara M, Ikeda H, Narisawa K, Tada K (1993b) The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele. Hum Genet 92:397–402

    Google Scholar 

  • Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155–7174

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-77, Sendai, Japan

    Toshihiro Ohura, Kuniaki Nariwasa & Keiya Tada

  2. Department of Biochemical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-77, Sendai, Japan

    Kazuie Iisnuma

Authors
  1. Toshihiro Ohura
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kuniaki Nariwasa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Keiya Tada
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Kazuie Iisnuma
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ohura, T., Nariwasa, K., Tada, K. et al. A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene. Hum Genet 95, 707–708 (1995). https://doi.org/10.1007/BF00209492

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00209492

Keywords

Search

Navigation