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 Tyr 393 → 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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have