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PMID: 10070614 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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.

Journal of inherited metabolic disease ·Vol. 22 ·No. 1 ·1999-02-00 ·Pages 19-28

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

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.

MeSH Terms
Animals Base Sequence Cattle Cells, Cultured Chromosome Mapping Chromosomes, Human, Pair 1 Cloning, Molecular DNA, Complementary Electron Transport Complex I Female Humans Male Mice Molecular Sequence Data Mutation NAD(P)H Dehydrogenase (Quinone)/deficiency NADH, NADPH Oxidoreductases/genetics,metabolism Rats Sequence Analysis, DNA Sequence Homology, Nucleic Acid Tissue Distribution
Chemicals
DNA, Complementary NADH, NADPH Oxidoreductases NAD(P)H Dehydrogenase (Quinone) Electron Transport Complex I
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Loeffen J
Nijmegen Center for Mitochondrial Disorders, University Children's Hospital, The Netherlands.
Smeets R
Smeitink J
Triepels R
Sengers R
Trijbels F
van den Heuvel L
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Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1023/a:1005434912463
Published
1999-02-00
Pages
19-28
Language
English
Region
United States
NLM ID
7910918
Subset
IM
Databases
GENBANK
AF020352
External Links
PubMed source DOI: 10.1023/a:1005434912463 View journal details
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