Somatic Cell and Molecular Genetics

, Volume 20, Issue 2, pp 99–105

Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of humanα-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
Article

DOI: 10.1007/BF02290679

Cite this article as:
Ali, G., Wasco, W., Cai, X. et al. Somat Cell Mol Genet (1994) 20: 99. doi:10.1007/BF02290679

Abstract

We have isolated and sequenced cDNAs representing the full-length (2987-bp) gene for dihydrolipoyl succinyltransferase (E2k component) of the humanα-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.

Copyright information

© Plenum Publishing Corporation 1994

Authors and Affiliations

  • Ghazala Ali
    • 1
  • Wilma Wasco
    • 2
  • Xingang Cai
    • 1
  • Paul Szabo
    • 3
  • Kwan-Fu R. Sheu
    • 1
  • Arthur J. L. Cooper
    • 4
  • Sandra M. Gaston
    • 2
  • James F. Gusella
    • 4
  • Rudolph E. Tanzi
    • 2
  • John P. Blass
    • 1
  1. 1.Burke Medical Research InstituteCornell University Medical CollegeWhite Plains
  2. 2.Laboratory of Genetics and AgingMassachusetts General HospitalCharlestown
  3. 3.Geriatrics, BiochemistryCornell University Medical CollegeNew York
  4. 4.Molecular Neurogenetics UnitMassachusetts General HospitalCharlestown

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