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.
Publication Date: 2010-11-26 PubMed ID: 21070293DOI: 10.1111/j.1365-2052.2010.02130.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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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
Researcher Affiliations
- Dipartimento di Genetica e Microbiologia Adriano Buzzati-Traverso, Università di Pavia, Via Ferrata 1, 27100 Pavia, Italy.
MeSH Terms
- Animals
- Cell Nucleus / genetics
- DNA, Mitochondrial / genetics
- Horses / genetics
- Humans
- Mutagenesis, Insertional
- Polymorphism, Genetic
Citations
This article has been cited 19 times.- Piras FM, Cappelletti E, Abdelgadir WA, Salamon G, Vignati S, Santagostino M, Sola L, Nergadze SG, Giulotto E. A Satellite-Free Centromere in Equus przewalskii Chromosome 10.. Int J Mol Sci 2023 Feb 18;24(4).
- Myćka G, Klecel W, Stefaniuk-Szmukier M, Jaworska J, Musiał AD, Ropka-Molik K. Mitochondrial Whole D-Loop Variability in Polish Draft Horses of Sztumski Subtype.. Animals (Basel) 2022 Jul 22;12(15).
- Parakatselaki ME, Zhu CT, Rand D, Ladoukakis ED. NUMTs Can Imitate Biparental Transmission of mtDNA-A Case in Drosophila melanogaster.. Genes (Basel) 2022 Jun 6;13(6).
- Piras FM, Cappelletti E, Santagostino M, Nergadze SG, Giulotto E, Raimondi E. Molecular Dynamics and Evolution of Centromeres in the Genus Equus.. Int J Mol Sci 2022 Apr 10;23(8).
- Sola L, Nergadze SG, Cappelletti E, Piras FM, Giulotto E, Santagostino M. Telomeric-Like Repeats Flanked by Sequences Retrotranscribed from the Telomerase RNA Inserted at DNA Double-Strand Break Sites during Vertebrate Genome Evolution.. Int J Mol Sci 2021 Oct 13;22(20).
- Dhorne-Pollet S, Barrey E, Pollet N. A new method for long-read sequencing of animal mitochondrial genomes: application to the identification of equine mitochondrial DNA variants.. BMC Genomics 2020 Nov 11;21(1):785.
- Klumplerova M, Splichalova P, Oppelt J, Futas J, Kohutova A, Musilova P, Kubickova S, Vodicka R, Orlando L, Horin P. Genetic diversity, evolution and selection in the major histocompatibility complex DRB and DQB loci in the family Equidae.. BMC Genomics 2020 Sep 30;21(1):677.
- Santagostino M, Piras FM, Cappelletti E, Del Giudice S, Semino O, Nergadze SG, Giulotto E. Insertion of Telomeric Repeats in the Human and Horse Genomes: An Evolutionary Perspective.. Int J Mol Sci 2020 Apr 18;21(8).
- Cappelletti E, Piras FM, Badiale C, Bambi M, Santagostino M, Vara C, Masterson TA, Sullivan KF, Nergadze SG, Ruiz-Herrera A, Giulotto E. CENP-A binding domains and recombination patterns in horse spermatocytes.. Sci Rep 2019 Nov 1;9(1):15800.
- Schiavo G, Hoffmann OI, Ribani A, Utzeri VJ, Ghionda MC, Bertolini F, Geraci C, Bovo S, Fontanesi L. A genomic landscape of mitochondrial DNA insertions in the pig nuclear genome provides evolutionary signatures of interspecies admixture.. DNA Res 2017 Oct 1;24(5):487-498.
- Bayerova Z, Janova E, Matiasovic J, Orlando L, Horin P. Positive selection in the SLC11A1 gene in the family Equidae.. Immunogenetics 2016 May;68(5):353-64.
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- Santagostino M, Khoriauli L, Gamba R, Bonuglia M, Klipstein O, Piras FM, Vella F, Russo A, Badiale C, Mazzagatti A, Raimondi E, Nergadze SG, Giulotto E. Genome-wide evolutionary and functional analysis of the Equine Repetitive Element 1: an insertion in the myostatin promoter affects gene expression.. BMC Genet 2015 Oct 26;16:126.
- Soto-Calderón ID, Clark NJ, Wildschutte JV, DiMattio K, Jensen-Seaman MI, Anthony NM. Identification of species-specific nuclear insertions of mitochondrial DNA (numts) in gorillas and their potential as population genetic markers.. Mol Phylogenet Evol 2014 Dec;81:61-70.
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- Khanshour AM, Cothran EG. Maternal phylogenetic relationships and genetic variation among Arabian horse populations using whole mitochondrial DNA D-loop sequencing.. BMC Genet 2013 Sep 13;14:83.
- Futas J, Horin P. Natural killer cell receptor genes in the family Equidae: not only Ly49.. PLoS One 2013;8(5):e64736.
- Rogers HH, Griffiths-Jones S. Mitochondrial pseudogenes in the nuclear genomes of Drosophila.. PLoS One 2012;7(3):e32593.
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