Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase

Jimin Gao, Lewis Waber, Michael J. Bennett, K. Michael Gibson, Jonathan C. Cohen

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

Malonyl coenzyme A (CoA) decarboxylase (E.C.4. 1.1.9) catalyzes the conversion of malonyl CoA to acetyl CoA. The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here we report the isolation and sequencing of the human gene encoding malonyl CoA decarboxylase, and the identification of a mutation causing malonyl CoA decarboxylase deficiency. Human malonyl CoA decarboxylase cDNA sequences were identified by homology to the goose gene, and the intron/exon boundaries were determined by direct sequencing of a PAC clone containing the entire human gene. The 1479 basepair human cDNA is 70 percent identical to the goose sequence, and the intron/exon boundaries are completely conserved between the two species. The genetic mutation underlying malonyl CoA decarboxylase deficiency was determined in a patient with clinical features of this defect, malonic aciduria, and markedly reduced malonyl CoA decarboxylase activity.

Original languageEnglish (US)
Pages (from-to)178-182
Number of pages5
JournalJournal of Lipid Research
Volume40
Issue number1
StatePublished - Jan 1999

Fingerprint

malonyl-CoA decarboxylase
Cloning
Organism Cloning
Geese
Introns
Exons
Complementary DNA
Malonyl Coenzyme A
Genes
Mutation
Acetyl Coenzyme A
Muscle Hypotonia
Acidosis
Cardiomyopathies
Hypoglycemia
Intellectual Disability
Vomiting
Gene encoding
Seizures
Clone Cells

Keywords

  • Frameshift mutation
  • Inborn errors
  • Metabolism
  • Microbodies
  • Mitochondria

ASJC Scopus subject areas

  • Endocrinology

Cite this

Gao, J., Waber, L., Bennett, M. J., Michael Gibson, K., & Cohen, J. C. (1999). Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. Journal of Lipid Research, 40(1), 178-182.

Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. / Gao, Jimin; Waber, Lewis; Bennett, Michael J.; Michael Gibson, K.; Cohen, Jonathan C.

In: Journal of Lipid Research, Vol. 40, No. 1, 01.1999, p. 178-182.

Research output: Contribution to journalArticle

Gao, J, Waber, L, Bennett, MJ, Michael Gibson, K & Cohen, JC 1999, 'Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase', Journal of Lipid Research, vol. 40, no. 1, pp. 178-182.
Gao J, Waber L, Bennett MJ, Michael Gibson K, Cohen JC. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. Journal of Lipid Research. 1999 Jan;40(1):178-182.
Gao, Jimin ; Waber, Lewis ; Bennett, Michael J. ; Michael Gibson, K. ; Cohen, Jonathan C. / Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. In: Journal of Lipid Research. 1999 ; Vol. 40, No. 1. pp. 178-182.
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