CHARACTERIZATION OF THE MOUSE DIHYDROLIPOAMIDE DEHYDROGENASE (DLD) GENE - GENOMIC STRUCTURE, PROMOTER SEQUENCE, AND CHROMOSOMAL LOCALIZATION

The mouse dihydrolipoamide dehydrogenase (Dld) gene has been cloned, c haracterized, and mapped. This nuclear gene encodes a mitochondrial pr otein that is shared among several alpha-keto acid dehydrogenase compl exes and the glycine cleavage system. The Did gene is contained within an approximately 21-kb region and consists of 14 exons ranging in siz e from 69 to 521 nucleotides. The open reading frame codes for a prepr otein of 509 amino acids with a predicted mature protein of 474 amino acids that is highly conserved among mammalian species (>90% identical ). Primer extension analyses have shown the gene to have transcription initiation sites with tissue-specific differences in relative utiliza tion. The 5' flanking region is G+C rich and lacks a TATA box, but doe s contain initiator element and multiple transcription factor-binding consensus sequences. Northern blot analysis shows that the Did mRNA in various tissues is approximately 2.4 kb in size. The Did gene has bee n localized to the proximal region of chromosome 12, approximately 21 cM from the centromere. (C) 1997 Academic Press.