Abstract
Nuclear copies of the mitochondrial DNA (NUMTs) have already been described in several species. In this context, we identified and analysed 166 bovine NUMT regions with a total length of 430 kbp, representing about 0.02% of the cattle nuclear genome. Copies of all mitochondrial regions were detected in the nuclear genome, with distinct degrees of sequence similarity to the mitogenome. Some NUMT regions include large mitogenome segments and show high similarity to the organelle genome sequence. NUMT regions are frequently modified by insertion of repetitive sequences and by sequence rearrangements. We confirmed the existence of 29 NUMT regions by PCR amplification using DNA from the cow (Dominette) which was used to generate the bovine genome reference sequence, ruling out the possibility that these NUMTs could be artifacts of the genome assembly. As there are NUMT regions with high similarity to the mitogenome, special care is needed when designing primers for mitochondrial DNA amplification. Our results can therefore be used to avoid co-amplification of bovine nuclear sequences similar to mitochondrial DNA.
Highlights
Nuclear copies of the mitochondrial DNA (NUMTs) have already been described in several species
The endosymbiotic interactions that resulted in the formation of the mitochondria were an important mechanism for eukaryotic cells evolution[1]
Mitochondrial DNA sequences are widely used in population and phylogenetic research[11,26,36]
Summary
Nuclear copies of the mitochondrial DNA (NUMTs) have already been described in several species. The endosymbiotic interactions that resulted in the formation of the mitochondria were an important mechanism for eukaryotic cells evolution[1] During this process, ancestral genes have been transferred from the mitochondrial to the nuclear genome[2]. It seems that not all mitochondrial genes have been incorporated into the nuclear genome because of the essential role of this organelle in the bioenergetics functions of the cell[3] In this dynamic evolving process, it is not a surprise that NUMTs (nuclear mitochondrial sequences) have been found in the nuclear genome of several species, including cattle, pig, goat and humans[4,5,6,7,8,9]. Depending on the insertion position, NUMTs can have deleterious effects and be associated to diseases[21,22]
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