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 language | English (US) |
---|---|
Pages (from-to) | 34-38 |
Number of pages | 5 |
Journal | FEBS Letters |
Volume | 284 |
Issue number | 1 |
DOIs | |
State | Published - 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