Structure of the gene encoding the entire mature E1α subunit of human branched‐chain α‐keto acid dehydrogenase complex
Open Access
- 17 June 1991
- journal article
- Published by Wiley in FEBS Letters
- Vol. 284 (1) , 34-38
- https://doi.org/10.1016/0014-5793(91)80755-r
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.Keywords
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