Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human [alpha]-ketoglutarate dehydrogenase complex
- Cornell Univ. Medical College, White Plains, NY (United States)
- Massachusetts General Hospital, Charleston, MA (United States)
- Cornell Univ. Medical College, New York, NY (United States)
The authors have isolated and sequenced cDNAs representing the full-length (2987-bp) gene for dihydrolipoyl succinyltransferase (E2k component) of the human [alpha]-ketoglutarate dehydrogenase complex (KHDHC) 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.
- OSTI ID:
- 6701136
- Journal Information:
- Somatic Cell and Molecular Genetics; (United States), Vol. 20:2; ISSN 0740-7750
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
CARBON-GROUP TRANSFERASES
GENES
HUMAN CHROMOSOMES
GENETIC MAPPING
DNA HYBRIDIZATION
DNA SEQUENCING
HUMAN CHROMOSOME 1
NERVOUS SYSTEM DISEASES
BIOTECHNOLOGY
CHROMOSOMES
DISEASES
ENZYMES
GENETIC ENGINEERING
HYBRIDIZATION
MAPPING
NUCLEIC ACID HYBRIDIZATION
ORGANIC COMPOUNDS
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS
TRANSFERASES
550400* - Genetics