Genome-wide association study identifies phospholipase C zeta 1 (PLCz1) as a stallion fertility locus in Hanoverian warmblood horses.
Authors: Schrimpf Rahel, Dierks Claudia, Martinsson Gunilla, Sieme Harald, Distl Ottmar
Journal: PloS one
Summary
# Editorial Summary: Genetic Markers for Stallion Fertility in Hanoverians Reproductive performance significantly impacts the economics of warmblood breeding programmes, yet the genetic basis of stallion fertility remains poorly characterised. Schrimpf and colleagues conducted a genome-wide association study in 228 Hanoverian stallions, using SNP genotyping to identify genetic variants associated with paternal contribution to pregnancy rate per oestrous cycle. Three intronic single nucleotide polymorphisms within the phospholipase C zeta 1 (PLCz1) gene on equine chromosome 6 showed significant associations with fertility breeding values; bioinformatic analysis suggests these non-coding variants influence gene expression through effects on transcription factor binding sites and microRNA regulation. PLCz1's biological role in spermatogenesis and sperm-induced calcium oscillation during fertilisation makes it a compelling candidate, whilst the neighbouring CAPZA3 gene was excluded as a fertility factor. For practitioners involved in breeding decisions, these findings offer potential for future genetic screening of stallion candidates, though validation in other breeds and larger populations will be necessary before implementing genomic selection tools in routine stud management.
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Practical Takeaways
- •Genetic testing for PLCz1 polymorphisms may become a useful tool for selecting breeding stallions with higher predicted fertility in Hanoverian warmblood populations
- •Understanding the genetic basis of stallion fertility could enable earlier identification of subfertile males and improve breeding program efficiency
- •These findings are breed-specific (Hanoverian); validation in other warmblood and horse breeds would be needed before wider application
Key Findings
- •PLCz1 gene on equine chromosome 6 identified as significantly associated with stallion fertility through genome-wide association study in 228 Hanoverian stallions
- •Three intronic SNPs within PLCz1 were validated as significantly associated with estimated breeding values for paternal pregnancy rate in 237 additional stallions
- •Bioinformatic analysis suggests regulatory effects of identified SNPs through transcription factor binding sites and microRNA interactions
- •CAPZA3, located near PLCz1, was eliminated as a candidate gene for fertility in Hanoverian stallions