The human NADH:ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit:: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients

被引：17

作者：

Loeffen, J ^{[1
]}

Smeets, R ^{[1
]}

Smeitink, J ^{[1
]}

Triepels, R ^{[1
]}

Sengers, R ^{[1
]}

Trijbels, F ^{[1
]}

van den Heuvel, L ^{[1
]}

机构：

[1] Univ Childrens Hosp, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 01期

关键词：

D O I：

10.1023/A:1005434912463

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We have cloned the cDNA of the NDUFS5 subunit (15 kDa) of the human mitochondrial respiratory chain complex NADH:ubiquinone oxidoreductase (complex I). The open reading frame consists of 321 base-pairs, coding for 106 amino acids, with a calculated molecular mass of 12.5 kDa There is an 81.0% identity with the bovine equivalent on cDNA level and 74.5% identity on amino acid basis. PCR analysis of rodent-human somatic cell hybrids revealed that the human NDUFS5 gene maps to chromosome 1. The NDUFS5 mRNA is expressed ubiquitously in human tissues, with a relative higher expression in human heart, skeletal muscle, liver, kidney and fetal heart. A mutation detection study of twenty isolated enzymatic complex I-deficient patients revealed no mutations, nor polymorphisms.

引用

页码：19 / 28

页数：10

共 40 条

[1]

ALBRACHT PJ, 1996, BIOCHIM BIOPHYS ACTA, V1318, P92

[2] Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle [J].

Bentlage, HACM ;

Wendel, U ;

Schagger, H ;

terLaak, HJ ;

Janssen, AJM ;

Trijbels, JMF .

NEUROLOGY, 1996, 47 (01) :243-248

[3] 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

[4]

BUDDIGER PAL, 1997, AM J HUM GENET, V61, P1779

[5]

CHOMCZYNSKI P, 1987, ANAL BIOCHEM, V162, P156, DOI 10.1016/0003-2697(87)90021-2

[6] URF6, LAST UNIDENTIFIED READING FRAME OF HUMAN MTDNA, CODES FOR AN NADH DEHYDROGENASE SUBUNIT [J].

CHOMYN, A ;

CLEETER, MWJ ;

RAGAN, CI ;

RILEY, M ;

DOOLITTLE, RF ;

ATTARDI, G .

SCIENCE, 1986, 234 (4776) :614-618

[7] 6 UNIDENTIFIED READING FRAMES OF HUMAN MITOCHONDRIAL-DNA ENCODE COMPONENTS OF THE RESPIRATORY-CHAIN NADH DEHYDROGENASE [J].

CHOMYN, A ;

MARIOTTINI, P ;

CLEETER, MWJ ;

RAGAN, CI ;

MATSUNOYAGI, A ;

HATEFI, Y ;

DOOLITTLE, RF ;

ATTARDI, G .

NATURE, 1985, 314 (6012) :592-597

[8] DETERMINATION OF THE CDNA SEQUENCE FOR THE HUMAN MITOCHONDRIAL 75-KDA FE-S PROTEIN OF NADH-COENZYME-Q REDUCTASE [J].

CHOW, W ;

RAGAN, I ;

ROBINSON, BH .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 1991, 201 (03) :547-550

[9] MOLECULAR-CLONING AND CHARACTERIZATION OF THE ACTIVE HUMAN MITOCHONDRIAL NADH-UBIQUINONE OXIDOREDUCTASE 24-KDA GENE (NDUFV2) AND ITS PSEUDOGENE [J].

DECOO, R ;

BUDDIGER, P ;

SMEETS, H ;

VANKESSEL, AG ;

MORGANHUGHES, J ;

WEGHUIS, DO ;

OVERHAUSER, J ;

VANOOST, B .

GENOMICS, 1995, 26 (03) :461-466

[10] Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3) [J].

deCoo, RFM ;

Buddiger, P ;

Smeets, HJM ;

vanOost, BA .

GENOMICS, 1997, 45 (02) :434-437

← 1 2 3 4 →