Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase

被引:50
作者
Hirawake, H
Taniwaki, M
Tamura, A
Amino, H
Tomitsuka, E
Kita, K
机构
[1] Univ Tokyo, Grad Sch Med, Dept Biomed Chem, Bunkyo Ku, Tokyo 1130033, Japan
[2] Kyoto Prefectural Univ, Dept Internal Med 3, Kyoto 606, Japan
来源
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | 1999年 / 1412卷 / 03期
关键词
mitochondria; succinate dehydrogenase; cytochrome b; gene structure; SDHD; nuclear respiratory factor (NRF); (human);
D O I
10.1016/S0005-2728(99)00071-7
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
We have mapped large (cybL) and small (cybS) subunits of cytochrome b in the succinate-ubiquinone oxidoreductase (complex II) of human mitochondria to chromosome 1q21 and 11q23, respectively (H. Hirawake et al., Cytogenet. Cell Genet. 79 (1997) 132-138). In the present study, the human SDHD gene encoding cybS was cloned and characterized. The gene comprises four exons and three introns extending over 19 kb. Sequence analysis of the 5' promoter region showed several motifs for the binding of transcription factors including nuclear respiratory factors NRF-1 and NRF-2 at positions -137 and -104, respectively. In addition to this gene, six pseudogenes of cybS were isolated and mapped on the chromosome. (C) 1999 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:295 / 300
页数:6
相关论文
共 28 条
[1]   STRUCTURAL ORGANIZATION OF THE GENE ENCODING THE HUMAN IRON-SULFUR SUBUNIT OF SUCCINATE-DEHYDROGENASE [J].
AU, HC ;
REAMROBINSON, D ;
BELLEW, LA ;
BROOMFIELD, PLE ;
SAGHBINI, M ;
SCHEFFLER, IE .
GENE, 1995, 159 (02) :249-253
[2]   Promoter analysis of the human succinate dehydrogenase iron-protein gene - Both nuclear respiratory factors NRF-1 and NRF-2 are required [J].
Au, HC ;
Scheffler, IE .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1998, 251 (1-2) :164-174
[3]   Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain [J].
BirchMachin, MA ;
Marsac, C ;
Ponsot, G ;
Parfait, B ;
Taylor, RW ;
Rustin, P ;
Munnich, A .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 220 (01) :57-62
[4]   MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY [J].
BOURGERON, T ;
RUSTIN, P ;
CHRETIEN, D ;
BIRCHMACHIN, M ;
BOURGEOIS, M ;
VIEGASPEQUIGNOT, E ;
MUNNICH, A ;
ROTIG, A .
NATURE GENETICS, 1995, 11 (02) :144-149
[5]  
BULLIS BL, 1994, J BIOL CHEM, V269, P6543
[6]   THE CDNA SEQUENCE OF BEEF-HEART C-II-3, A MEMBRANE-INTRINSIC SUBUNIT OF SUCCINATE-UBIQUINONE OXIDOREDUCTASE [J].
COCHRAN, B ;
CAPALDI, RA ;
ACKRELL, BAC .
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1994, 1188 (1-2) :162-166
[7]   Characterization of the human SDHC gene encoding one of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria [J].
Elbehti-Green, A ;
Au, HC ;
Mascarello, JT ;
Ream-Robinson, D ;
Scheffler, IE .
GENE, 1998, 213 (1-2) :133-140
[8]   Succinate: Quinone oxidoreductases - Variations on a conserved theme [J].
Hagerhall, C .
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1997, 1320 (02) :107-141
[9]   A structural model for the membrane-integral domain of succinate:quinone oxidoreductases [J].
Hagerhall, C ;
Hederstedt, L .
FEBS LETTERS, 1996, 389 (01) :25-31
[10]   Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase):: cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23 [J].
Hirawake, H ;
Taniwaki, M ;
Tamura, A ;
Kojima, S ;
Kita, K .
CYTOGENETICS AND CELL GENETICS, 1997, 79 (1-2) :132-138