Molecular Biology and Evolution, Vol 13, 537-548, Copyright © 1996 by Society for Molecular Biology and Evolution
JL Blanchard and GW Schmidt
In contrast to extensive infiltration of plant nuclear genomes by
mitochondrial and chloroplast DNA fragments, a computer assessment method
could only detect seven mitochondrial DNA integration events in
Saccharomyces cerevisiae chromosomes and five examples of DNA migration
into mammalian nuclear genes. No evidence could be detected for
mitochondrial DNA insertion into chromosome III of Caenorhabditis elegans
or in nuclear DNA sequences of Drosophila sp. or Plasmodium falciparum.
Thus, the quantity of organellar DNA in the nucleus appears to vary amongst
organisms and is lower in Saccharomyces cerevisiae than suggested by
experimental plasmid systems. As in plants, migratory mitochondrial DNA
fragments in yeast and mammals are found in intergenic regions and introns.
Although many of these insertions are located near retroelements,
mitochondrial DNA incorporation appears to be independent of retroelement
insertion. Comparison of the mitochondrial DNA fragments with mitochondrial
transcription maps suggest that two fragments may have transposed through
DNA-based and one through RNA-based mechanisms. Analyses of the integration
sites indicate that organellar DNA sequences are incorporated by an end-
joining mechanism common to yeast, mammals, and plants. The transferred
sequences also provide a novel perspective on rates and patterns of
nucleotide substitution. Analysis of the D-loop region including a nuclear
copy of mitochondrial DNA supports a progressive reduction in D- loop
length within both monkey and great apes mitochondrial lineages. Relative
distance tests polarized with nuclear copies of the mitochondrial 12S/16S
rRNA region suggest that a constant number of transversions has accumulated
within the great ape clade, but the number of transitions in orangutan is
elevated with respect to members of the human/chimp/gorilla clade. In
addition to DNA migration events, 29 nuclear/mitochondrial genes were
identified in GenBank that appear to result from inadvertent ligation of
nuclear and mitochondrial mRNA transcripts during the cloning process.
ORIGINAL ARTICLE
Mitochondrial DNA migration events in yeast and humans: integration by a common end-joining mechanism and alternative perspectives on nucleotide substitution patterns [published erratum appears in Mol Biol Evol 1996 Jul;13(6):893]
Department of Botany, University of Georgia, Athens, USA. jeffb@oregon.uoregon.edu
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