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

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