title: Premature termination of transcription and alternative splicing in the human transacylase (E2) gene of the branched-chain alpha-ketoacid dehydrogenase complex.
abstract: We have isolated a human genomic clone hgE2-14 containing exons 5, 6, 7 and 8 of the branched-chain alpha-ketoacid dehydrogenase E2 transacylase gene. Sequencing of exon 8 and its surrounding intronic sequences reveals complete identity with the previously reported truncated E2 cDNA (hE2-1) sequence between nucleotides 938 and 1521. We have identified consensus splice site junctions flanking exon 8 and also a cryptic 3' splice site 370 bases upstream from the start of exon 8 in the gene. In addition, two polyadenylation signals located in the hE2-1 cDNA are also present in the intronic sequence downstream of exon 8 which promote termination of transcription. The data indicate that shortened human liver E2 transcripts undergo alternative splicing to yield mRNA of the hE2-1 type.
authors.affiliation: Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235-9038.
authors.forename: K S
authors.initials: KS
authors.lastname: Lau
authors.forename: J
authors.initials: J
authors.lastname: Lee
authors.forename: C W
authors.initials: CW
authors.lastname: Fisher
authors.forename: R P
authors.initials: RP
authors.lastname: Cox
authors.forename: D T
authors.initials: DT
authors.lastname: Chuang
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D000217:Acyltransferases / Q000235:genetics*; D001483:Base Sequence; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D005796:Genes; D006801:Humans; D007658:Ketone Oxidoreductases / Q000235:genetics*; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D009841:Oligonucleotides / Q000737:chemistry; D016133:Polymerase Chain Reaction; D012322:RNA Precursors / Q000235:genetics; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D009097:Multienzyme Complexes; D009841:Oligonucleotides; D012322:RNA Precursors; D012333:RNA, Messenger; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D000217:Acyltransferases; C033588:dihydrolipoamide acyltransferase