RGD Reference Report - Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. - Rat Genome Database

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Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

Authors: Carbone, MA  MacKay, N  Ling, M  Cole, DE  Douglas, C  Rigat, B  Feigenbaum, A  Clarke, JT  Haworth, JC  Greenberg, CR  Seargeant, L  Robinson, BH 
Citation: Carbone MA, etal., Am J Hum Genet 1998 Jun;62(6):1312-9.
RGD ID: 737741
Pubmed: PMID:9585612   (View Abstract at PubMed)
PMCID: PMC1377163   (View Article at PubMed Central)
DOI: DOI:10.1086/301884   (Journal Full-text)

We characterized the pyruvate carboxylase (PC) gene by PCR amplification, subcloning, and sequencing. The coding region has 19 exons and 18 introns spanning approximately 16 kb of genomic DNA. Screening both the cDNA and the gene of individuals with the simple A form of PC deficiency revealed an 1828G-->A missense mutation in 11 Ojibwa and 2 Cree patients and a 2229G-->T transversion mutation in 2 brothers of Micmac origin. Carrier frequency may be as high as 1/10 in some groupings. The two point mutations are located in a region of homology conserved among yeast, rat, and human PC, in the vicinity of the carboxylation domain of the enzyme. These data provide the first characterization of the human PC gene structure, the identification of common pathogenic mutations, and the demonstration of a founder effect in the Ojibwa and Cree patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pyruvate carboxylase deficiency disease  IAGP 737741DNA:missense mutations:cds:p.A650T and p.M743I (human)RGD 
pyruvate carboxylase deficiency disease  ISOPC (Homo sapiens)737741; 737741DNA:missense mutations:cds:p.A650T and p.M743I (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pc  (pyruvate carboxylase)

Genes (Mus musculus)
Pcx  (pyruvate carboxylase)

Genes (Homo sapiens)
PC  (pyruvate carboxylase)


Additional Information