The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit:: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

被引：21

作者：

Triepels, R ^{[1
]}

van den Heuvel, L ^{[1
]}

Loeffen, J ^{[1
]}

Smeets, R ^{[1
]}

Trijbels, F ^{[1
]}

Smeitink, J ^{[1
]}

机构：

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

来源：

HUMAN GENETICS | 1998年 / 103卷 / 05期

关键词：

D O I：

10.1007/s004390050869

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the cloning of the cDNA sequence of the nuclear-encoded NDUFA8 subunit of NADH: ubiquinone oxidoreductase, the first mitochondrial respiratory chain complex. The NDUFA8 open reading frame (ORF) includes 519 bp and encodes 172 amino acids (Mr=20.1 kDa). The human cDNA sequence shows 86.2% identity with the bovine sequence, whereas the human NDUFA8 amino acid sequence is 87.8% similar to its bovine PGIV protein counterpart. Both human and bovine NDUFA8 contain a conserved cysteine motif. Polymerase chain reaction analysis of rodent/human somatic cell hybrids maps the human NDUFA8 gene to chromosome 9. A multiple tissue blot has revealed the highest NDUFA8 mRNA expression in human heart, skeletal muscle, and fetal heart. Mutation analysis of the NDUFA8 fibroblast cDNA in 20 patients with an isolated enzymatic complex I deficiency in cultured skin fibroblasts has revealed two polymorphisms, one within the ORF and the other in the 3' untranslated region of the NDUFA8 cDNA sequence. The allelic frequency of both polymorphisms was similar in controls and complex-I-deficient patients.

引用

页码：557 / 563

页数：7

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