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Home / Equine Research Bank / Animals (Basel) / Copy Number Variation (CNV): A New Genomic Insight in Horses...
Animals : an open access journal from MDPI2022; 12(11); 1435; doi: 10.3390/ani12111435

Copy Number Variation (CNV): A New Genomic Insight in Horses.

Abstract: Copy number variations (CNVs) are a new-fangled source of genetic variation that can explain changes in the phenotypes in complex traits and diseases. In recent years, their study has increased in many livestock populations. However, the study and characterization of CNVs in equines is still very limited. Our study aimed to investigate the distribution pattern of CNVs, characterize CNV regions (CNVRs), and identify the biological pathways affected by CNVRs in the Pura Raza Española (PRE) breed. To achieve this, we analyzed high-density SNP genotyping data (670,804 markers) from a large cohort of 654 PRE horses. In total, we identified 19,902 CNV segments and 1007 CNV regions in the whole population. The length of the CNVs ranged from 1.024 kb to 4.55 Mb, while the percentage of the genome covered by CNVs was 4.4%. Interestingly, duplications were more abundant than deletions and mixed CNVRs. In addition, the distribution of CNVs across the chromosomes was not uniform, with ECA12 being the chromosome with the largest percentage of its genome covered (19.2%), while the highest numbers of CNVs were found in ECA20, ECA12, and ECA1. Our results showed that 71.4% of CNVRs contained genes involved in olfactory transduction, olfactory receptor activity, and immune response. Finally, 39.1% of the CNVs detected in our study were unique when compared with CNVRs identified in previous studies. To the best of our knowledge, this is the first attempt to reveal and characterize the CNV landscape in PRE horses, and it contributes to our knowledge of CNVs in equines, thus facilitating the understanding of genetic and phenotypic variations in the species. However, further research is still needed to confirm if the CNVs observed in the PRE are also linked to variations in the specific phenotypical differences in the breed.
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Publication Date: 2022-06-02 PubMed ID: 35681904PubMed Central: PMC9179425DOI: 10.3390/ani12111435Google 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 paper explores genetic variations, specifically Copy Number Variations (CNVs), within the Pura Raza Española (PRE) breed of horses. By examining the number and distribution of CNVs, the researchers aim to gain a better understanding of the impact of these genetic changes on traits and diseases in equines.

Understanding CNVs in Horses

  • The study centres on Copy Number Variations (CNVs), which are changes in the number of copies of a particular gene. These CNVs may explain alterations in phenotypes — observable traits — and diseases of complex nature.
  • The researchers argue that while the study of CNVs has expanded in various livestock populations, there is limited understanding as it pertains to equines, specifically the Pura Raza Española (PRE) breed.
  • The purpose of this study is to observe and understand the pattern of CNV distribution and characterize CNV regions (CNVRs) in PRE horses. Additionally, it aims to uncover the biological pathways that could be influenced by these CNVRs.

Methodology and Findings

  • The researchers analyzed high-density SNP genotyping data from 654 PRE horses. The markers used for this were 670,804 in total.
  • Through this method, the study identified 19,902 CNV segments and 1,007 CNV regions within the horse population.
  • These CNVs ranged in length from 1.024 kilobases to 4.55 Megabases. The proportion of the genome coated by CNVs was recorded as 4.4%.
  • The study interestingly revealed that duplications were more common than deletions within CNVRs. This aspect highlighted that the CNV distribution across the chromosomes was not consistent.
  • The research identified that the large majority (71.4%) of the CNVRs contained genes that influenced olfactory transduction, olfactory receptor activity, and immune response. This points to a potential role of these CNVs in the sensory and immune functioning of PRE horses.

Conclusion and Implications

  • This research is groundbreaking as it is the first to investigate and characterize the CNV landscape in PRE horses. The findings add to existing knowledge regarding CNVs in equines, potentially aiding a better understanding of genetic and phenotypic variations within the species.
  • However, the researchers indicate that further research is necessary to verify if the observed CNVs in the PRE breed are linked to specific phenotypic differences in the breed. Without such validation, it’s uncertain how these genetic variations may manifest at an individual horse level in terms of observable traits and potential disease susceptibilities.

Cite This Article

APA
Laseca N, Molina A, Valera M, Antonini A, Demyda-Peyrás S. (2022). Copy Number Variation (CNV): A New Genomic Insight in Horses. Animals (Basel), 12(11), 1435. https://doi.org/10.3390/ani12111435

Publication

Animals : an open access journal from MDPI
ISSN: 2076-2615
NlmUniqueID: 101635614
Country: Switzerland
Language: English
Volume: 12
Issue: 11
PII: 1435

Researcher Affiliations

Laseca, Nora
  • Departamento of Genética, Universidad de Córdoba, Edificio Gregor Mendel, CN-IV KM396, 14071 Córdoba, Spain.
Molina, Antonio
  • Departamento of Genética, Universidad de Córdoba, Edificio Gregor Mendel, CN-IV KM396, 14071 Córdoba, Spain.
Valera, Mercedes
  • Departamento de Agronomía, ETSIA, Universidad de Sevilla, Ctra Utrera Km 1, 41013 Sevilla, Spain.
Antonini, Alicia
  • Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina.
Demyda-Peyrás, Sebastián
  • Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina.
  • Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), La Plata 1900, Argentina.

Grant Funding

  • PICT2018-0227 / Agencia Nacional de Promociu00f3n Cientu00edfica y Tecnolu00f3gica
  • AGL2017-84217-P / Ministry of Economy, Industry and Competitiveness

Conflict of Interest Statement

The authors declare no conflict of interest.

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Citations

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