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PloS one2014; 9(10); e109675; doi: 10.1371/journal.pone.0109675

Genome-wide association study identifies phospholipase C zeta 1 (PLCz1) as a stallion fertility locus in Hanoverian warmblood horses.

Abstract: A consistently high level of stallion fertility plays an economically important role in modern horse breeding. We performed a genome-wide association study for estimated breeding values of the paternal component of the pregnancy rate per estrus cycle (EBV-PAT) in Hanoverian stallions. A total of 228 Hanoverian stallions were genotyped using the Equine SNP50 Beadchip. The most significant association was found on horse chromosome 6 for a single nucleotide polymorphism (SNP) within phospholipase C zeta 1 (PLCz1). In the close neighbourhood to PLCz1 is located CAPZA3 (capping protein (actin filament) muscle Z-line, alpha 3). The gene PLCz1 encodes a protein essential for spermatogenesis and oocyte activation through sperm induced Ca2+-oscillation during fertilization. We derived equine gene models for PLCz1 and CAPZA3 based on cDNA and genomic DNA sequences. The equine PLCz1 had four different transcripts of which two contained a premature termination codon. Sequencing all exons and their flanking sequences using genomic DNA samples from 19 Hanoverian stallions revealed 47 polymorphisms within PLCz1 and one SNP within CAPZA3. Validation of these 48 polymorphisms in 237 Hanoverian stallions identified three intronic SNPs within PLCz1 as significantly associated with EBV-PAT. Bioinformatic analysis suggested regulatory effects for these SNPs via transcription factor binding sites or microRNAs. In conclusion, non-coding polymorphisms within PLCz1 were identified as conferring stallion fertility and PLCz1 as candidate locus for male fertility in Hanoverian warmblood. CAPZA3 could be eliminated as candidate gene for fertility in Hanoverian stallions.
Publication Date: 2014-10-29 PubMed ID: 25354211PubMed Central: PMC4212906DOI: 10.1371/journal.pone.0109675Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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The research article presents a study on the Hanoverian stallion fertility rate loci, particularly focusing on phospholipase C zeta 1 (PLCz1), using a genome-wide association technique.

Objective and Methodology

  • The main aim of the study was to identify the genetic factors contributing to the fertility of Hanoverian warmblood stallions, given their economic relevance in horse breeding.
  • The study used a genome-wide association study (GWAS) to evaluate the paternal component of the pregnancy rate per estrus cycle (EBV-PAT). The GWAS was conducted on genomic DNA sequences of 228 Hanoverian stallions.
  • The research particularly analyzed the single nucleotide polymorphisms (SNPs) within the phospholipase C zeta 1 (PLCz1) gene and the capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3) gene.

Findings

  • The most significant association was found with the PLCz1 gene on horse chromosome 6, suggesting it plays a crucial role in stallion fertility. The PLCz1 gene encodes for a protein vital for both spermatogenesis and oocyte activation via sperm induced Ca2+ oscillation during fertilization.
  • The study also determined equine gene models for both PLCz1 and CAPZA3 based on cDNA and genomic DNA sequences. Four different transcripts were identified for PLCz1, two of which had a premature termination codon.
  • The researchers also sequenced all exons and flanking sequences in the genes using genomic DNA samples from 19 Hanoverian stallions. This revealed 47 polymorphisms within the PLCz1 gene and one within the CAPZA3 gene.
  • A further validation across 237 Hanoverian stallions associated three intronic SNPs within the PLCz1 gene with the EBV-PAT, thereby confirming their influence on stallion fertility.

Conclusions

  • The study concluded that non-coding polymorphisms within the PLCz1 gene were associated with stallion fertility, thus identifying it as a locus for male fertility in Hanoverian warmbloods.
  • The bioinformatic analysis suggested that these SNPs might have regulatory effects via transcription factor binding sites or microRNAs.
  • The study removed CAPZA3 from the equation as a candidate gene involved in Hanoverian stallion fertility.

Cite This Article

APA
Schrimpf R, Dierks C, Martinsson G, Sieme H, Distl O. (2014). Genome-wide association study identifies phospholipase C zeta 1 (PLCz1) as a stallion fertility locus in Hanoverian warmblood horses. PLoS One, 9(10), e109675. https://doi.org/10.1371/journal.pone.0109675

Publication

ISSN: 1932-6203
NlmUniqueID: 101285081
Country: United States
Language: English
Volume: 9
Issue: 10
Pages: e109675

Researcher Affiliations

Schrimpf, Rahel
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Dierks, Claudia
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Martinsson, Gunilla
  • State Stud Celle of Lower Saxony, Celle, Germany.
Sieme, Harald
  • Clinic for Horses, Unit for Reproduction Medicine, University of Veterinary Medicine Hannover, Hannover, Germany.
Distl, Ottmar
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.

MeSH Terms

  • Animals
  • CapZ Actin Capping Protein / genetics
  • Chromosomes, Mammalian
  • Fertility
  • Genetic Loci
  • Genome-Wide Association Study
  • Horses / genetics
  • Horses / metabolism
  • Horses / physiology
  • Male
  • Molecular Sequence Data
  • Phosphoinositide Phospholipase C / genetics
  • Phosphoinositide Phospholipase C / metabolism
  • Polymorphism, Single Nucleotide

Conflict of Interest Statement

Competing Interests: The authors have declared that no competing interests exist.

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