Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human α-ketoglutarate dehydrogenase complex

Ghazala Ali, Wilma Wasco, Xingang Cai, Paul Szabo, Kwan Fu R. Sheu, Arthur J.L. Cooper, Sandra M. Gaston, James F. Gusella, Rudolph E. Tanzi, John P. Blass

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

We have isolated and sequenced cDNAs representing the full-length (2987-bp) gene for dihydrolipoyl succinyltransferase (E2k component) of the human α-ketoglutarate dehydrogenase comple (KGDHC) from a human fetal brain cDNA library. The E2k cDNA was mapped to human chromosome 14 using a somatic cell hybrid panel, and more precisely to band 14q24.3 by in situ hybridization. This cDNA also cross-hybridized to an apparent E2k pseudogene on chromosome 1p31. Northern analysis revealed the E2k gene to be ubiquitously expressed in peripheral tissues and brain. Interestingly, chromosome 14q24.3 has recently been reported to contain gene defects for an early-onset form of familial Alzheimer's disease and for Machado-Joseph disease. Future studies will be necessary to determine whether the E2k gene plays a role in either of these two disorders.

Original languageEnglish (US)
Pages (from-to)99-105
Number of pages7
JournalSomatic Cell and Molecular Genetics
Volume20
Issue number2
DOIs
StatePublished - Mar 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Fingerprint

Dive into the research topics of 'Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human α-ketoglutarate dehydrogenase complex'. Together they form a unique fingerprint.

Cite this