Identification and evolutionary analysis of tissue-specific isoforms of mitochondrial complex I subunit NDUFV3

Biochim Biophys Acta Bioenerg. 2017 Mar;1858(3):208-217. doi: 10.1016/j.bbabio.2016.12.004. Epub 2016 Dec 15.

Abstract

Mitochondrial complex I is the largest respiratory chain complex. Despite the enormous progress made studying its structure and function in recent years, potential regulatory roles of its accessory subunits remained largely unresolved. Complex I gene NDUFV3, which occurs in metazoa, contains an extra exon that is only present in vertebrates and thereby evolutionary even younger than the rest of the gene. Alternative splicing of this extra exon gives rise to a short NDUFV3-S and a long NDUFV3-L protein isoform. Complexome profiling revealed that the two NDUFV3 isoforms are constituents of the multi-subunit complex I. Further mass spectrometric analyses of complex I from different murine and bovine tissues showed a tissue-specific expression pattern of NDUFV3-S and NDUFV3-L. Hence, NDUFV3-S was identified as the only isoform in heart and skeletal muscle, whereas in liver, brain, and lung NDUFV3-L was expressed as the dominant isoform, together with NDUFV3-S present in all tissues analyzed. Thus, we identified NDUFV3 as the first out of 30 accessory subunits of complex I present in vertebrate- and tissue-specific isoforms. Interestingly, the tissue-specific expression pattern of NDUFV3-S and NDUFV3-L isoforms was paralleled by changes in kinetic parameters, especially the substrate affinity of complex I. This may indicate a regulatory role of the NDUFV3 isoforms in different vertebrate tissues.

Keywords: Mitochondria; NDUFV3; OXPHOS Complex I; Subunit isoforms; Tissue-specificity.

MeSH terms

  • Alternative Splicing / genetics
  • Amino Acid Sequence / genetics
  • Animals
  • Cattle
  • Electron Transport Complex I / chemistry
  • Electron Transport Complex I / genetics*
  • Evolution, Molecular*
  • Exons / genetics
  • Gene Expression Regulation
  • Humans
  • Mice
  • Mitochondria, Heart / chemistry
  • Mitochondria, Heart / genetics*
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / metabolism
  • Organ Specificity
  • Protein Isoforms / chemistry
  • Protein Isoforms / genetics*

Substances

  • NDUFV3 protein, human
  • Protein Isoforms
  • Electron Transport Complex I