Structure of the gene encoding the entire mature E1α subunit of human branched-chain α-keto acid dehydrogenase complex

Nahid Dariush, Charles W. Fisher, Rody P. Cox, David T. Chuang

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

We report the isolation of a 22-kb human genomic clone (G7) that contains 8 exons encoding a partial mitochondrial presequence, the entire mature peptide and the complete 3′ untranslated region of the E1α mRNA of human branched-chain α-keto acid dehydrogenase complex. Based on this gene structure, exon 9 contains the Tyr393 → Asn mutation previously identified in the E1α subunit of Mennonite and other maple syrup urine disease (MSUD) patients. Moreover, the homozygous mutation appears to cause skipping of exon 6 in the mutant E1α transcript. The information on the gene structure for the entire mature E1α subunit will facilitate investigations into the molecular basis of MSUD involving this subunit.

Original languageEnglish (US)
Pages (from-to)34-38
Number of pages5
JournalFEBS Letters
Volume284
Issue number1
DOIs
StatePublished - Jun 17 1991

Keywords

  • E1α gene structure (human)
  • E1α mutation
  • Exon skipping
  • Maple syrup urine disease

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

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