Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: The mouse homologs of genes responsible for glutaric acidemia type II in human

被引:8
作者
White, RA [1 ]
Dowler, LL [1 ]
Angeloni, SV [1 ]
Koeller, DM [1 ]
机构
[1] UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
关键词
D O I
10.1006/geno.1996.0170
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Electron transfer flavoprotein (composed of alpha and beta subunits) is an obligatory electron acceptor for several dehydrogenases and is located in the mitochondrial matrix. Electrons accepted by electron transfer flavoprotein (ETF) are transferred to the main mitochondrial respiratory chain by way of ETF dehydrogenase (ETFDH). In humans, deficiency of ETF or ETFDH leads to glutaric acidemia type II, an inherited metabolic disorder that can be fatal in its neonatal form and is characterized by severe hypoketotic hypoglycemia and acidosis. We used cDNA probes for the Etfdh, Etfb, and Etfa genes to determine localization of these mouse genes to chromosomes 3, 7, and 13. (C) 1996 Academic Press, Inc.
引用
收藏
页码:131 / 134
页数:4
相关论文
共 18 条
[1]   ASSIGNMENT OF THE GENE ENCODING THE BETA-SUBUNIT OF THE ELECTRON-TRANSFER FLAVOPROTEIN (ETFB) TO HUMAN-CHROMOSOME 19Q13.3 [J].
ANTONACCI, R ;
COLOMBO, I ;
ARCHIDIACONO, N ;
VOLTA, M ;
DIDONATO, S ;
FINOCCHIARO, G ;
ROCCHI, M .
GENOMICS, 1994, 19 (01) :177-179
[2]  
BARTON DE, 1987, CYTOGENET CELL GENET, V46, P577
[3]  
BEARD SE, 1993, CLIN RES, V41, pA271
[4]   THE SUCRASE-ISOMALTASE STRUCTURAL GENE (SI-S) AND A REGULATORY GENE (SI-R) ARE CLOSELY LINKED TO ESTERASE-26 (ES-26) ON MOUSE CHROMOSOME-3 [J].
BIRKENMEIER, EH ;
ROWE, LB ;
LEEPER, LL ;
HENNING, SJ .
MAMMALIAN GENOME, 1993, 4 (09) :531-536
[5]  
FINOCCHIARO G, 1988, J BIOL CHEM, V263, P15773
[6]   CDNA CLONING AND MITOCHONDRIAL IMPORT OF THE BETA-SUBUNIT OF THE HUMAN ELECTRON-TRANSFER FLAVOPROTEIN [J].
FINOCCHIARO, G ;
COLOMBO, I ;
GARAVAGLIA, B ;
GELLERA, C ;
VALDAMERI, G ;
GARBUGLIO, N ;
DIDONATO, S .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1993, 213 (03) :1003-1008
[7]   GLUTARIC ACIDEMIA TYPE-II - HETEROGENEITY IN BETA-OXIDATION FLUX, POLYPEPTIDE-SYNTHESIS, AND COMPLEMENTARY-DNA MUTATIONS IN THE ALPHA-SUBUNIT OF ELECTRON-TRANSFER FLAVOPROTEIN IN 8 PATIENTS [J].
FRENEAUX, E ;
SHEFFIELD, VC ;
MOLIN, L ;
SHIRES, A ;
RHEAD, WJ .
JOURNAL OF CLINICAL INVESTIGATION, 1992, 90 (05) :1679-1686
[8]   DEFICIENCY OF ELECTRON-TRANSFER FLAVOPROTEIN OR ELECTRON-TRANSFER FLAVOPROTEIN - UBIQUINONE OXIDOREDUCTASE IN GLUTARIC ACIDEMIA TYPE-II FIBROBLASTS [J].
FRERMAN, FE ;
GOODMAN, SI .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (13) :4517-4520
[9]   ISOLATION OF A DEAD-FAMILY PROTEIN GENE THAT ENCODES A MURINE HOMOLOG OF DROSOPHILA-VASA AND ITS SPECIFIC EXPRESSION IN GERM-CELL LINEAGE [J].
FUJIWARA, Y ;
KOMIYA, T ;
KAWABATA, H ;
SATO, M ;
FUJIMOTO, H ;
FURUSAWA, M ;
NOCE, T .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (25) :12258-12262
[10]   MOLECULAR-CLONING AND EXPRESSION OF A CDNA-ENCODING HUMAN ELECTRON-TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE [J].
GOODMAN, SI ;
AXTELL, KM ;
BINDOFF, LA ;
BEARD, SE ;
GILL, RE ;
FRERMAN, FE .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1994, 219 (1-2) :277-286