title: Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex.
abstract: We have isolated and sequenced cDNAs representing the full-length (2987-bp) gene for dihydrolipoyl succinyltransferase (E2k component) of the human alpha-ketoglutarate dehydrogenase complex (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.
authors.affiliation: Burke Medical Research Institute, Cornell University Medical College, White Plains, New York 10605.
authors.forename: G
authors.initials: G
authors.lastname: Ali
authors.forename: W
authors.initials: W
authors.lastname: Wasco
authors.forename: X
authors.initials: X
authors.lastname: Cai
authors.forename: P
authors.initials: P
authors.lastname: Szabo
authors.forename: K F
authors.initials: KF
authors.lastname: Sheu
authors.forename: A J
authors.initials: AJ
authors.lastname: Cooper
authors.forename: S M
authors.initials: SM
authors.lastname: Gaston
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
authors.forename: R E
authors.initials: RE
authors.lastname: Tanzi
authors.forename: J P
authors.initials: JP
authors.lastname: Blass
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D001921:Brain / Q000201:enzymology; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D003001:Cloning, Molecular; D018076:DNA, Complementary; D006801:Humans; D017403:In Situ Hybridization; D008969:Molecular Sequence Data; D011544:Pseudogenes
chemical_list: D018076:DNA, Complementary; D000217:Acyltransferases; C021515:dihydrolipoamide succinyltransferase