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Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop

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Abstract

Mitochondrial DNA (mtDNA) is unusual in its rapid rate of evolution1 and high level of intraspecies sequence variation2. The latter is thought to be related to the strict maternal inheritance of mtDNA, which effectively isolates within a species mitochondrial gene pools that accumulate mutations and vary independently3 A fundamental and as yet unexplained aspect of this process is how, in the face of somatic and germ-line mtDNA ploidy of 103 to 105 (refs 4, 5), individual variant mtDNA molecules resulting from mutational events can come to dominate the large intracellular mtDNA population so rapidly. To help answer this question, we have determined here the nucleotide sequence of all or part of the D-loop region in 14 maternally related Holstein cows. Fourdifferent D-loop sequences can be distinguished in the mtDNA of these animals. One explanation is that multiple mitochondrial genotypes existed in the maternal germ tine and that expansion or segregation of one of these genotypes during oogenesis or early development led to the rapid genotypic shifts observed.

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Olivo, P., Van de Walle, M., Laipis, P. et al. Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop. Nature 306, 400–402 (1983). https://doi.org/10.1038/306400a0

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