A 17-bp insertion and a Phe215 → Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34

Charles W. Fisher, Kim S. Lau, Carolyn R. Fisher, R. Max Wynn, Rody P. Cox, David T. Chuang

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

We have amplified the cDNA for the transacylase (E2) subunit of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex from a thiamine-responsive MSUD cell line (WG-34) by the polymerase chain reaction. Sequencing of the amplified WG-34 cDNA showed a 17-bp insertion (AAATACCTTGTTACCAG) apparently resulting from an aberrant splicing of the E2 gene, and a missense (T → G) mutation that changes Phe215 to Cys in the E2 subunit. The existence of these two mutations was confirmed by probing the amplified E2 cDNA or genomic DNA with allele-specific oligonucleotides. The above results support the thesis that the thiamine-responsive MSUD patient (WG-34) is a compound heterozygote at the E2 locus. The implication of the E2 mutations for the thiamine-responsiveness observed in this patient is discussed.

Original languageEnglish (US)
Pages (from-to)804-809
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume174
Issue number2
DOIs
StatePublished - Jan 31 1991

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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