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Genes2021; 12(10); 1501; doi: 10.3390/genes12101501

A Novel QTL and a Candidate Gene Are Associated with the Progressive Motility of Franches-Montagnes Stallion Spermatozoa after Thaw.

Abstract: The use of frozen-thawed semen is an important reproduction tool to preserve the biodiversity of small, native horse breeds such as the Franches-Montagnes (FM). However, not all stallions produce cryotolerant semen with a progressive motility after thaw ≥ 35%. To improve our understanding of the genetic background of male fertility traits in both fresh and frozen-thawed semen, we performed genome-wide association studies (GWAS) on gel-free volume, sperm cell concentration, total sperm count, and progressive motility in fresh and frozen-thawed semen from 109 FM stallions using 335,494 genome-wide single nucleotide polymorphisms (SNPs). We identified one significant ( < 1.69 × 10) quantitative trait locus (QTL) on ECA6 within the gene for progressive motility after thaw, which was previously associated with progressive motility in boars. Homozygous stallions showed a substantial drop in progressive motility after thaw. This QTL could be used to identify cryointolerant stallions, avoiding the costly cryopreservation process. Further studies are needed to confirm whether this QTL is also present in other horse breeds.
Publication Date: 2021-09-25 PubMed ID: 34680896PubMed Central: PMC8536120DOI: 10.3390/genes12101501Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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This research examines the genetic factors affecting the quality of frozen-thawed semen in Franches-Montagnes stallions. The researchers identify a significant gene associated with sperm motility after thawing, which could potentially aid in identifying stallions whose semen is not suitable for the freezing process.

Research Context

  • The Franches-Montagnes (or FM) is a small, native breed of horse. Preserving the biodiversity of such breeds is important, and often relies on the use of frozen-thawed semen for reproduction.
  • Not all stallions produce semen that can withstand the freezing (cryopreservation) and thawing process while maintaining a progressive motility rate of at least 35%. Motility, or the ability of sperm to move efficiently, is crucial for successful insemination.
  • This research aimed to improve our understanding of the genetic factors that influence male fertility traits in both fresh and frozen-thawed semen.

Methodology

  • This study used genome-wide association studies (GWAS) to examine key male fertility traits. These included sperm volume, sperm concentration, total sperm count, and sperm motility in both fresh and frozen-thawed semen.
  • The researchers collected semen from 109 FM stallions and analysed over 335,000 genome-wide single nucleotide polymorphisms (SNPs). SNPs represent variations at a single position in a DNA sequence among individuals and are commonly used in population genetics studies.

Significant Findings

  • The study revealed a significant quantitative trait locus (QTL) on ECA6 within the gene associated with sperm motility after thawing.
  • This QTL had previously been linked to progressive motility in boars. Homozygous stallions (those with two identical forms of this gene) showed a significant decrease in sperm motility after thawing.

Implications and Further Research

  • Identifying this QTL could help to detect stallions whose semen is unsuited to the freezing process, saving time and resources spent on unsuccessful cryopreservation attempts.
  • However, the researchers note that further studies are required to determine whether this QTL is also present in other horse breeds.

Cite This Article

APA
Gmel AI, Burger D, Neuditschko M. (2021). A Novel QTL and a Candidate Gene Are Associated with the Progressive Motility of Franches-Montagnes Stallion Spermatozoa after Thaw. Genes (Basel), 12(10), 1501. https://doi.org/10.3390/genes12101501

Publication

ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 12
Issue: 10
PII: 1501

Researcher Affiliations

Gmel, Annik Imogen
  • Animal GenoPhenomics, Agroscope, Route de la Tioleyre 4, 1725 Posieux, Switzerland.
  • Equine Department, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057 Zurich, Switzerland.
Burger, Dominik
  • Swiss Institute of Equine Medicine ISME, Agroscope and University of Bern, Les Longs Prés, 1580 Avenches, Switzerland.
Neuditschko, Markus
  • Animal GenoPhenomics, Agroscope, Route de la Tioleyre 4, 1725 Posieux, Switzerland.

MeSH Terms

  • Animals
  • Cryopreservation
  • Freezing
  • Genome-Wide Association Study / veterinary
  • Horses
  • Male
  • Quantitative Trait Loci
  • Retrospective Studies
  • Sperm Count
  • Sperm Motility / genetics

Conflict of Interest Statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

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Citations

This article has been cited 1 times.
  1. Nikitkina EV, Dementieva NV, Shcherbakov YS, Atroshchenko MM, Kudinov AA, Samoylov OI, Pozovnikova MV, Dysin AP, Krutikova AA, Musidray AA, Mitrofanova OV, Plemyashov KV, Griffin DK, Romanov MN. Genome-wide association study for frozen-thawed sperm motility in stallions across various horse breeds.. Anim Biosci 2022 Dec;35(12):1827-1838.
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