AI Article Synopsis
- Bovine NADH:ubiquinone oxidoreductase, a key enzyme in the mitochondrial respiratory chain, has around 36 subunits, with 15 of them identified in humans so far.
- A new subunit, B17, has been discovered, with its cDNA sequence identified as 598-bp, showing high homology to the bovine version.
- This B17 subunit is located on chromosome 2, is widely expressed in various tissues (especially in high-energy demanding ones like the kidney), and showed no mutations in a study of patients with complex I deficiency.
Article Abstract
Bovine NADH:ubiquinone oxidoreductase (complex 1) of the mitochondrial respiratory chain consists of about 36 nuclear-encoded subunits. We review the current knowledge of the 15 human complex I subunits cloned so far, and report the 598-bp cDNA sequence, the chromosomal localization and the tissue expression of an additional subunit, the B17 subunit. The cDNA open reading frame of B17 comprises 387 bp and encodes a protein of 128 amino acids (calculated Mr 15.5 kDa). There is 82.7% and 78.1% homology, respectively, at the cDNA and amino acid level with the bovine counterpart. The gene of the B17 subunit has been mapped to chromosome 2. Multiple-tissue dot-blots showed ubiquitous expression of the mRNA with relatively higher expression in tissues known for their high energy demand. Of these, kidney showed the highest expression. Mutational analysis of the subunit revealed no mutations or polymorphisms in 20 patients with isolated enzymatic complex I deficiency in cultured skin fibroblasts.
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| http://dx.doi.org/10.1007/s004390050813 | DOI Listing |
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