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Literature DB >> 10070614

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.

J Loeffen¹, R Smeets, J Smeitink, R Triepels, R Sengers, F Trijbels, L van den Heuvel.

Abstract

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.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1999 PMID： 10070614 DOI： 10.1023/a:1005434912463

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

38 in total

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Journal: Genomics Date: 1997-10-15 Impact factor: 5.736

2. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

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Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

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Authors: S Pitkanen; F Merante; D R McLeod; D Applegarth; T Tong; B H Robinson
Journal: Pediatr Res Date: 1996-03 Impact factor: 3.756

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Authors: C I Ragan; Y Hatefi
Journal: Methods Enzymol Date: 1986 Impact factor: 1.600

5. Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

Authors: A Chomyn; P Mariottini; M W Cleeter; C I Ragan; A Matsuno-Yagi; Y Hatefi; R F Doolittle; G Attardi
Journal: Nature Date: 1985 Apr 18-24 Impact factor: 49.962

6. Mitochondrial NADH:ubiquinone oxidoreductase (complex I): proximity of the subunits of the flavoprotein and the iron-sulfur protein subcomplexes.

Authors: M Yamaguchi; Y Hatefi
Journal: Biochemistry Date: 1993-03-02 Impact factor: 3.162

Review 7. Lacticacidemia.

Authors: B H Robinson
Journal: Biochim Biophys Acta Date: 1993-10-20

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.

1. Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee.

2. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

3. Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain.

4. Isolation of the iron-sulfur-containing polypeptides of NADH: oxidoreductase ubiquinone.

5. Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

6. Mitochondrial NADH:ubiquinone oxidoreductase (complex I): proximity of the subunits of the flavoprotein and the iron-sulfur protein subcomplexes.

Review 7. Lacticacidemia.

8. A simple method for displaying the hydropathic character of a protein.

Review 9. Determination of the structures of respiratory enzyme complexes from mammalian mitochondria.

10. Presence of an acyl carrier protein in NADH:ubiquinone oxidoreductase from bovine heart mitochondria.

Review 1. Molecular genetics of the mammalian NADH-ubiquinone oxidoreductase.

2. The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

3. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.

4. Combining Proteomics and Metabolomics to Analyze the Effects of Spaceflight on Rice Progeny.

Review 5. Maternal DNA Methylation During Pregnancy: a Review.

6. Alternative splicing at GYNNGY 5' splice sites: more noise, less regulation.

7. Multi-Omics Characterization of Type 2 Diabetes Mellitus-Induced Cognitive Impairment in the db/db Mouse Model.