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Reproduction in domestic animals = Zuchthygiene2014; 50(2); 195-199; doi: 10.1111/rda.12467

Implication of FKBP6 for male fertility in horses.

Abstract: In stallions, impaired acrosome reaction (IAR) may often cause subfertility. Single nucleotide polymorphisms (SNPs) within FK506-binding protein (FKBP6) seem to be associated with IAR in stallions. However, their effect on stallion fertility has not yet been quantified. Using whole-genome sequence data of seven stallions, we searched FKBP6 for mutations to perform an association study in Hanoverian stallions with estimated breeding values for the paternal component of the pregnancy rate per oestrus cycle (EBV-PAT) as target trait. Genotyping five exonic mutations within FKBP6 revealed a significant association of the SNP g.11040379C>A (p.167H>N) with EBV-PAT in 216 Hanoverian stallions. The difference among the two homozygous genotypes was 7.62% in EBV-PAT, corresponding to one standard deviation of EBV-PAT. In conclusion, in Hanoverian stallions, the FKBP6-associated SNP g.11040379C>A confers higher conception rates in A/A homozygous and lower conception rates in C/C homozygous Hanoverian stallions. Thus, an FKBP6-associated missense mutation is significantly associated with stallion fertility.
Publication Date: 2014-12-12 PubMed ID: 25495881DOI: 10.1111/rda.12467Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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The research article examines the implication of the FKBP6 gene mutation in determining the fertility rates of Hanoverian stallions, revealing significant data that links a specific mutation to increased or decreased conception rates.

Objective of the Research

  • The primary goal of this study was to investigate the FK506-binding protein (FKBP6) gene in stallions, particularly in relation to impaired acrosome reaction (IAR) and its potential for causing subfertility.

Methodology

  • The researchers examined the whole-genome sequence data of seven stallions and scrutinized the FKBP6 gene for mutations.
  • An association study was then conducted in Hanoverian stallions to measure breeding values for the paternal component of the pregnancy rate per oestrus cycle (EBV-PAT).
  • Five exonic mutations in the FKBP6 gene were identified and genotyped. These were then compared against EBV-PAT to study any potential associations.

Findings

  • The single nucleotide polymorphism (SNP) identified as g.11040379C>A (p.167H>N) was found to have a significant association with EBV-PAT in 216 Hanoverian stallions.
  • The two homozygous genotypes displayed a difference of 7.62% in EBV-PAT, equivalent to one standard deviation of EBV-PAT.

Conclusion

  • The study concluded that the FKBP6-associated SNP g.11040379C>A played a decisive role in determining conception rates in Hanoverian stallions. Stallions with the A/A homozygous gene mutation displayed higher conception rates as opposed to those with the C/C homozygous mutation which had lower rates.
  • Hence, it was established that an FKBP6-associated missense mutation is significantly associated with stallion fertility.

Cite This Article

APA
Schrimpf R, Metzger J, Martinsson G, Sieme H, Distl O. (2014). Implication of FKBP6 for male fertility in horses. Reprod Domest Anim, 50(2), 195-199. https://doi.org/10.1111/rda.12467

Publication

ISSN: 1439-0531
NlmUniqueID: 9015668
Country: Germany
Language: English
Volume: 50
Issue: 2
Pages: 195-199

Researcher Affiliations

Schrimpf, R
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Metzger, J
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Martinsson, G
  • National Stud Lover Saxony, Celle, Germany.
Sieme, H
  • Clinic for Horses, Unit for Reproduction Medicine, University of Veterinary Medicine Hannover, Hannover, Germany.
Distl, O
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.

MeSH Terms

  • Animals
  • Female
  • Fertility / genetics
  • Fertility / physiology
  • Gene Expression Regulation / physiology
  • Genotype
  • Haplotypes
  • Horses / genetics
  • Horses / physiology
  • Immunophilins / genetics
  • Immunophilins / metabolism
  • Male
  • Mutation
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Tacrolimus Binding Proteins / genetics
  • Tacrolimus Binding Proteins / metabolism

Citations

This article has been cited 5 times.
  1. Ullah A, Chen W, Shi L, Wang M, Geng M, Na J, Akhtar MF, Khan MZ, Wang C. Challenges and Enhancing Strategies of Equine Semen Preservation: Nutritional and Genetic Perspectives. Vet Sci 2025 Aug 25;12(9).
    doi: 10.3390/vetsci12090807pubmed: 41012733google scholar: lookup
  2. 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.
    doi: 10.5713/ab.21.0504pubmed: 35240017google scholar: lookup
  3. Laseca N, Anaya G, Peña Z, Pirosanto Y, Molina A, Demyda Peyrás S. Impaired Reproductive Function in Equines: From Genetics to Genomics. Animals (Basel) 2021 Feb 3;11(2).
    doi: 10.3390/ani11020393pubmed: 33546520google scholar: lookup
  4. Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. Anim Genet 2019 Dec;50(6):569-597.
    doi: 10.1111/age.12857pubmed: 31568563google scholar: lookup
  5. Schrimpf R, Gottschalk M, Metzger J, Martinsson G, Sieme H, Distl O. Screening of whole genome sequences identified high-impact variants for stallion fertility. BMC Genomics 2016 Apr 14;17:288.
    doi: 10.1186/s12864-016-2608-3pubmed: 27079378google scholar: lookup