title: Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant.
abstract: Defects in the human mitochondrial genetic system result in some diseases. These disorders are the result of rearrangements or point mutations in mitochondrial genes. In higher plants mutations and rearrangements in the mitochondrial DNA are believed to cause cytoplasmic male sterility (CMS), a mitochondrially inherited inability to produce viable pollen. In sorghum, formation of CMS is strongly correlated with anther-specific loss of mitochondrial atp6 RNA editing. Here we show that this loss of atp6 RNA editing mimics point mutations at codons that cause severe disorders in humans. We conclude that (i) loss of RNA editing in sorghum anthers probably causes CMS, (ii) similarities exist in the onset of mitochondrial dysfunction in plant and human tissues, and (iii) the evolutionary appearance of RNA editing provided a mechanism to compensate for otherwise lethal point mutations.
authors.affiliation: Lehrstuhl für Allgemeine Botanik, Ruhr-Universität Bochum, Germany. frank.kempken@ruhr-uni-bochum.de
authors.forename: F
authors.initials: F
authors.lastname: Kempken
authors.forename: W
authors.initials: W
authors.lastname: Howard
authors.forename: D R
authors.initials: DR
authors.lastname: Pring
mesh_terms: D000595:Amino Acid Sequence; D003062:Codon; D004272:DNA, Mitochondrial / Q000235:genetics; D005298:Fertility; D006801:Humans; D017240:Mitochondrial Myopathies / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010940:Plant Proteins / Q000737:chemistry / Q000235:genetics*; D010944:Plants / Q000235:genetics*; D006180:Proton-Translocating ATPases; D017386:Sequence Homology, Amino Acid
chemical_list: D003062:Codon; D004272:DNA, Mitochondrial; D010940:Plant Proteins; D006180:Proton-Translocating ATPases