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Premature termination of transcription and alternative splicing in the human transacylase (E2) gene of the branched‐chain α‐ketoacid dehydrogenase complex
Author(s) -
Lau Kim S.,
Lee Jun,
Fisher Charles W.,
Cox Rody P.,
Chuang David T.
Publication year - 1991
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(91)80155-v
Subject(s) - exon , polyadenylation , exon trapping , alternative splicing , microbiology and biotechnology , rna splicing , gene , biology , transcription (linguistics) , complementary dna , splice site mutation , splice , nucleic acid sequence , genetics , consensus sequence , messenger rna , peptide sequence , rna , linguistics , philosophy
We have isolated a human genomic clone hgE2‐14 containing exons 5,6,7 and 8 of the branched‐chain α‐ketoacid dehydrogenase E2 transacylase gene. Sequencing of exon B 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.