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International journal of molecular sciences2020; 21(8); 2838; doi: 10.3390/ijms21082838

Insertion of Telomeric Repeats in the Human and Horse Genomes: An Evolutionary Perspective.

Abstract: Interstitial telomeric sequences (ITSs) are short stretches of telomeric-like repeats (TTAGGG)n at nonterminal chromosomal sites. We previously demonstrated that, in the genomes of primates and rodents, ITSs were inserted during the repair of DNA double-strand breaks. These conclusions were derived from sequence comparisons of ITS-containing loci and ITS-less orthologous loci in different species. To our knowledge, insertion polymorphism of ITSs, i.e., the presence of an ITS-containing allele and an ITS-less allele in the same species, has not been described. In this work, we carried out a genome-wide analysis of 2504 human genomic sequences retrieved from the 1000 Genomes Project and a PCR-based analysis of 209 human DNA samples. In spite of the large number of individual genomes analyzed we did not find any evidence of insertion polymorphism in the human population. On the contrary, the analysis of ITS loci in the genome of a single horse individual, the reference genome, allowed us to identify five heterozygous ITS loci, suggesting that insertion polymorphism of ITSs is an important source of genetic variability in this species. Finally, following a comparative sequence analysis of horse ITSs and of their orthologous empty loci in other Perissodactyla, we propose models for the mechanism of ITS insertion during the evolution of this order.
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Publication Date: 2020-04-18 PubMed ID: 32325780PubMed Central: PMC7215372DOI: 10.3390/ijms21082838Google Scholar: Lookup
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  • Journal Article

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 examines the existence of Interstitial Telomeric Sequences (ITSs), specific DNA sequences, in human and horse genomes. The study didn’t find any variability of these sequences is in the human population, but it did identify such variation in horses which could have important genetic implications.

Understanding the Basics

  • The article focuses on short portions of DNA known as Interstitial Telomeric Sequences. These are sequences similar to telomeres, the protective end caps of our chromosomes, but are located at non-terminal chromosomal locations, or within chromosomes.
  • Previous studies highlighted how this sequence emerged during repair of DNA double-strand breaks in primates and rodents – this type of DNA damage can lead to genetic disorders or cancer if not properly repaired.

The Human Genome Analysis

  • The researchers used genomic data from 2504 humans from the 1000 Genomes Project, a global initiative to create a detailed catalogue of human genetic variation.
  • They searched for evidence of ITS insertion polymorphism – variation due to the presence of an ITS in some instances (ITS-containing) and its absence in others (ITS-less) within the same species.
  • To their knowledge, no such variability has been described earlier, and their research further confirmed this – they found no evidence of ITS insertion polymorphism in the human genome.

Horse Genome Analysis and Comparative Modeling

  • Analysis of the horse genome, on the other hand, revealed five instances of ITS insertion polymorphism.
  • This is significant as it suggests that ITS insertion could be an important source of genetic variability or diversity in horses. Genetic diversity is crucial for species adaptation and evolution.
  • The researchers also compared these horse ITS sequences with their counterparts in other members of the horse family (Perissodactyla), proposing models for how these ITS sequences may have been inserted throughout the evolution of this family.

In summary, this study contributes toward understanding how these unique DNA sequences play a role in species’ genetic variability, potentially influencing how they evolve and adapt.

Cite This Article

APA
Santagostino M, Piras FM, Cappelletti E, Del Giudice S, Semino O, Nergadze SG, Giulotto E. (2020). Insertion of Telomeric Repeats in the Human and Horse Genomes: An Evolutionary Perspective. Int J Mol Sci, 21(8), 2838. https://doi.org/10.3390/ijms21082838

Publication

International journal of molecular sciences
ISSN: 1422-0067
NlmUniqueID: 101092791
Country: Switzerland
Language: English
Volume: 21
Issue: 8
PII: 2838

Researcher Affiliations

Santagostino, Marco
  • Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Piras, Francesca M
  • Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Cappelletti, Eleonora
  • Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Del Giudice, Simone
  • Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Semino, Ornella
  • Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Nergadze, Solomon G
  • Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Giulotto, Elena
  • Department of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.

MeSH Terms

  • Alleles
  • Animals
  • Cells, Cultured
  • Chromosomes / genetics
  • Evolution, Molecular
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Genome, Human
  • Genome-Wide Association Study
  • Heterozygote
  • Horses / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid / genetics
  • Telomere / genetics

Conflict of Interest Statement

The authors declare no conflict of interest.

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Citations

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