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Animal genetics2010; 41 Suppl 2; 176-185; doi: 10.1111/j.1365-2052.2010.02130.x

Mitochondrial DNA insertions in the nuclear horse genome.

Abstract: The insertion of mitochondrial DNA in the nuclear genome generates numts, nuclear sequences of mitochondrial origin. In the horse reference genome, we identified 82 numts and showed that the entire horse mitochondrial DNA is represented as numts without gross bias. Numts were inserted in the horse nuclear genome at random sites and were probably generated during the repair of DNA double-strand breaks. We then analysed 12 numt loci in 20 unrelated horses and found that null alleles, lacking the mitochondrial DNA insertion, were present at six of these loci. At some loci, the null allele is prevalent in the sample analysed, suggesting that, in the horse population, the number of numt loci may be higher than 82 present in the reference genome. Contrary to humans, the insertion polymorphism of numts is extremely frequent in the horse population, supporting the hypothesis that the genome of this species is in a rapidly evolving state.
© 2010 The Authors, Journal compilation © 2010 Stichting International Foundation for Animal Genetics.
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Publication Date: 2010-11-26 PubMed ID: 21070293DOI: 10.1111/j.1365-2052.2010.02130.xGoogle Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research study focuses on the existence and behavior of “numts”, or nuclear sequences of mitochondrial origin, within the horse genome. The authors investigate how these mitochondrial DNA sequences have integrated into the horse’s nuclear DNA locations.

Numts and their Discovery

  • The researchers identified what is known as numts, or sequences of mitochondrial DNA that have been inserted into the nuclear genome of a horse.
  • 82 of these numts were discovered in the reference genome of a horse. An interesting point is that the entire mitochondrial DNA of the horse is represented in these numts, without significant bias.
  • Numts are inserted in the horse nuclear genome at randomized sites. The hypothesis presented in the research is that these numts are likely generated during the DNA double-strand breaks repair processes.

Analysis of Numts in Unrelated Horses

  • For a more comprehensive understanding of numts, the researchers undertook a detailed analysis of 12 numt locations (loci) within 20 unrelated horses.
  • The findings showed that “null alleles”, or sequences that are devoid of the mitochondrial DNA insertion, were found at six of the locations. This meant that there was no numt present at those particular genomic locations within these horses.
  • The fact that some of these numt-free zones (or null alleles) were quite common in the horse population was an indication to the researchers that the actual number of numt loci could be much larger than the 82 which were present within their reference genome.

Comparison with the Human Genome

  • A unique finding from this research was that, contrary to human genomes, the insertion polymorphism of numts was extremely frequent in the horse population.
  • This supports the hypothesis that the genome for the horse is rapidly evolving, which is indicated by the frequent changes in numt presence and distribution.

Cite This Article

APA
Nergadze SG, Lupotto M, Pellanda P, Santagostino M, Vitelli V, Giulotto E. (2010). Mitochondrial DNA insertions in the nuclear horse genome. Anim Genet, 41 Suppl 2, 176-185. https://doi.org/10.1111/j.1365-2052.2010.02130.x

Publication

Animal genetics
ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 41 Suppl 2
Pages: 176-185

Researcher Affiliations

Nergadze, S G
  • Dipartimento di Genetica e Microbiologia Adriano Buzzati-Traverso, Università di Pavia, Via Ferrata 1, 27100 Pavia, Italy.
Lupotto, M
    Pellanda, P
      Santagostino, M
        Vitelli, V
          Giulotto, E

            MeSH Terms

            • Animals
            • Cell Nucleus / genetics
            • DNA, Mitochondrial / genetics
            • Horses / genetics
            • Humans
            • Mutagenesis, Insertional
            • Polymorphism, Genetic

            Citations

            This article has been cited 21 times.
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