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

1999/02/01 by Jan Loeffen, J. Loeffen, Roel Smeets +10
Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology

paper · pdf · doi:10.1023/a:1005434912463

openalex publication_date 1999/02/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/29

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.

Citations

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