Evidence map›Paper›PMID 32325780›Full record

ArticleInternational journal of molecular sciences2020

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

Marco Santagostino, Francesca M Piras, Eleonora Cappelletti, Simone Del Giudice, Ornella Semino, Solomon G Nergadze, Elena Giulotto

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.4field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
  3. CENP-A and centromere evolution in equids.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025
    Review
  4. Article
  5. Article
  6. Review
  7. A Satellite-Free Centromere inInternational journal of molecular sciences · 2023
    Article
  8. Molecular Dynamics and Evolution of Centromeres in the Genus Equus.International journal of molecular sciences · 2022
    Review
  9. Article
  10. Article
  11. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings.Animals : an open access journal from MDPI · 2021
    Review
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Marco SantagostinoDepartment of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Francesca M PirasDepartment of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Eleonora CappellettiDepartment of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Simone Del GiudiceDepartment of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.
Ornella SeminoDepartment of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-9675-9403
Solomon G NergadzeDepartment of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0001-8121-0189
Elena GiulottoDepartment of Biology and Biotechnology, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-4705-2049
University of Pavia · IT

Funding

Consiglio Nazionale delle Ricerche CNR-Progetto Bandiera EpigenomicaMinistero dell'Istruzione, dell'Università e della Ricerca Dipartimenti di Eccellenza Program (2018-2022) - Dept. of Biology and Biotechnology "L. Spallanzani", University of PaviaMinistero dell'Istruzione, dell'Università e della Ricerca PRIN Grant No. 2015RA7XZS_002
6 · The paper itself

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.

Indexed as

AllelesAnimalsCells, CulturedChromosomesEvolution, MolecularFibroblastsGenome, HumanGenome-Wide Association StudyHeterozygoteHorsesHumansIn Situ Hybridization, FluorescencePolymorphism, GeneticRepetitive Sequences, Nucleic AcidTelomereDNA repairevolutionhorse genomehuman genomeinsertion polymorphisminterstitial telomerestelomerasetelomeres

Identifiers

PMID32325780
PMCPMC7215372
OpenAlexW3016344120

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.