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Titolo:
Cloning and characterization of a putative human D-2-hydroxyacid dehydrogenase in chromosome 9q
Autore:
Huang, TS; Yang, WX; Pereira, AC; Craigen, WJ; Shih, VE;
Indirizzi:
Harvard Univ, Amino Acid Disorder Lab, Massachusetts Gen Hosp, Sch Med,Neurol & Pediat Serv, Boston, MA 02129 USA Harvard Univ Boston MA USA 02129 urol & Pediat Serv, Boston, MA 02129 USA Harvard Univ, Sch Med, Childrens Hosp, Div Genet & Metab, Boston, MA USA Harvard Univ Boston MA USA drens Hosp, Div Genet & Metab, Boston, MA USA FMUSP, HC, Inst Coracao, Lab Genet & Cardiol Mol, Sao Paulo, Brazil FMUSPSao Paulo Brazil acao, Lab Genet & Cardiol Mol, Sao Paulo, Brazil Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 , Dept Pediat, Houston, TX 77030 USA
Titolo Testata:
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
fascicolo: 2, volume: 268, anno: 2000,
pagine: 298 - 301
SICI:
0006-291X(20000216)268:2<298:CACOAP>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
D-LACTATE DEHYDROGENASE; D-2-HYDROXYGLUTARIC ACIDURIA; ESCHERICHIA-COLI; FAMILY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Shih, VE Harvard Univ, Amino Acid Disorder Lab, Massachusetts Gen Hosp, Sch Med,Neurol & Pediat Serv, 149 13th St, Boston, MA 02129 USA Harvard Univ 149 13th St Boston MA USA 02129 Boston, MA 02129 USA
Citazione:
T.S. Huang et al., "Cloning and characterization of a putative human D-2-hydroxyacid dehydrogenase in chromosome 9q", BIOC BIOP R, 268(2), 2000, pp. 298-301

Abstract

There is little information on D-isomer-specific dehydrogenases in humans. Identification of D-2-hydroxy-glutaric aciduria, an inherited metabolic disorder associated with severe neurological dysfunction, highlights the roleof D-isomers in human metabolism. The possibility of a defect in D-2-hydroxyglutarate dehydrogenation prompted us to employ E, coli D-2-hydroxyacid dehydrogenase cDNA to search the human expressed sequence tags database. Twohuman EST homologues were retrieved and sequenced. Analysis showed the twoclones were identical with 1258 nucleotides encoding 248 amino acids of the putative human D-2-hydroxyacid dehydrogenase, It was highly homologous tobacterial D-2-hydroxyacid dehydrogenases (46%), D-phosphoglycerate dehydrogenase (38%), and formate dehydrogenase (36%) at the amino acid level. The gene is expressed ubiquitously in tissue, most abundantly in liver, and wasmapped to chromosome 9q between markers WI-3028 and WI-93330, To our knowledge this is the first cloning and characterization of the cDNA for a humanD-isomer specific NAD(+)-dependent 2-hydroxyacid dehydrogenase. (C) 2000 Academic Press.

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Documento generato il 03/12/20 alle ore 15:51:03