Evaluation of SPATA1-associated markers for stallion fertility.
Abstract: Stallion fertility is an economically important trait because the use of artificial insemination is increasing in the horse industry and superior sires are used more intensely. Molecular genetic markers may be useful as early indicators for a stallion's fertility and genetic improvement programmes. The testis-specific SPATA1 protein is involved in shaping the sperm head during spermatogenesis. Thus, the spermatogenesis associated 1 (SPATA1) gene was chosen as candidate for stallion fertility, and we analysed intragenic single nucleotide polymorphisms (SNPs) as genetic markers for the least square means (LSM) of the pregnancy rate per oestrus of stallions and breeding values (BV) for the paternal and embryonic component of the pregnancy rate per oestrus. We sequenced the cDNA of SPATA1 to verify the annotated mRNA sequence. One SPATA1-associated intronic SNP (BIEC2-968854) showed a significant association with the embryonic component of BVs of stallions for the pregnancy rate per oestrus. The embryonic component of BVs was positively associated with homozygous C/C stallions. Both the additive and dominance effects were significant with values of -5.8% (P = 0.01) and -6.4% (P = 0.02) for the embryonic component of BVs. For the same SNP, a suggestive association was found for the LSM of the pregnancy rate per oestrus of stallions. Heterozygous stallions had higher pregnancy rates per oestrus than homozygous stallions. The dominance effect was 4.1% with a nominal P-value of 0.02. The SNP BIEC2-968854 can change an SP1 binding site and thus we assume that gene regulation may be influenced through this intronic mutation. This is the first report on SPATA1 being associated with the pregnancy rate per oestrus for stallions.
Publication Date: 2009-02-10 PubMed ID: 19220231DOI: 10.1111/j.1365-2052.2008.01844.xGoogle Scholar: Lookup
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- Journal Article
Summary
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This study explores the potential influence of the gene SPATA1 and associated genetic markers on stallion fertility rates, important for the horse breeding industry. The researchers find that one SPATA1-associated genetic marker, BIEC2-968854, holds significant association with the embryonic component of breeding values for the pregnancy rate per oestrus of stallions.
About the Study
- The study focused on stallion fertility, a critical economic trait in the horse industry, particularly considering the increased use of artificial insemination and usage of superior sires.
- The researchers hypothesized that certain molecular genetic markers could provide early indicators of stallion fertility, aiding genetic enhancement programs.
The Role of SPATA1
- They identified the SPATA1 gene as a candidate to explore due its role in sperm head shaping during spermatogenesis.
- They investigated specific intragenic single nucleotide polymorphisms (SNPs), or genetic variations, within the SPATA1 gene for their potential association with the least square means (LSM) of the pregnancy rate per oestrus of stallions and their breeding values (BV).
- SPATA1 cDNA was sequenced to confirm the annotated mRNA sequence.
Findings
- An intronic SNP associated with SPATA1, known as BIEC2-968854, displayed a significant relationship with the embryonic component of BVs for the stallions’ pregnancy rate per oestrus.
- Stallions with homozygous C/C at the BIEC2-968854 position were positively associated with the embryonic component of BVs.
- The researchers found both additive -5.8% (P = 0.01) and dominance -6.4% (P = 0.02) effects to be significant for the embryonic component of BVs.
Further Associations
- For the same SNP (BIEC2-968854), there was a suggestive association found for the LSM of the pregnancy rate per oestrus of stallions.
- Heterozygous stallions had generally higher pregnancy rates per oestrus than homozygous stallions.
- The dominance effect was 4.1% with a P-value of 0.02.
- The researchers suggest the SNP BIEC2-968854 could alter an SP1 binding site, hence potentially impacting gene regulation via this intronic mutation.
Conclusions of the study
- This is the first study reporting an association of SPATA1 with the pregnancy rate per oestrus for stallions.
- Such findings could provide critical insights in improving breeding strategies for enhanced stallion fertility.
Cite This Article
APA
Giesecke K, Hamann H, Stock KF, Woehlke A, Sieme H, Distl O.
(2009).
Evaluation of SPATA1-associated markers for stallion fertility.
Anim Genet, 40(4), 359-365.
https://doi.org/10.1111/j.1365-2052.2008.01844.x Publication
Researcher Affiliations
- Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, 30559 Hannover, Germany.
MeSH Terms
- Animals
- Female
- Fertility / genetics
- Gene Frequency
- Genetic Markers
- Genotype
- Horses / genetics
- Horses / physiology
- Male
- Polymorphism, Single Nucleotide
- Pregnancy
- Pregnancy Rate
Citations
This article has been cited 11 times.- 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).
- Khan MZ, Chen W, Naz S, Liu X, Liang H, Chen Y, Kou X, Liu Y, Ashraf I, Han Y, Peng Y, Wang C, Zahoor M. Determinant genetic markers of semen quality in livestock. Front Endocrinol (Lausanne) 2024;15:1456305.
- Chessari G, Criscione A, Marletta D, Crepaldi P, Portolano B, Manunza A, Cesarani A, Biscarini F, Mastrangelo S. Characterization of heterozygosity-rich regions in Italian and worldwide goat breeds. Sci Rep 2024 Jan 2;14(1):3.
- Gonzalez-Castro RA, Carnevale EM. Phospholipase C Zeta 1 (PLCZ1): The Function and Potential for Fertility Assessment and In Vitro Embryo Production in Cattle and Horses. Vet Sci 2023 Dec 11;10(12).
- Gmel AI, Burger D, Neuditschko M. A Novel QTL and a Candidate Gene Are Associated with the Progressive Motility of Franches-Montagnes Stallion Spermatozoa after Thaw. Genes (Basel) 2021 Sep 25;12(10).
- Özbek M, Hitit M, Kaya A, Jousan FD, Memili E. Sperm Functional Genome Associated With Bull Fertility. Front Vet Sci 2021;8:610888.
- 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).
- Zhang L, Zhen J, Huang Q, Liu H, Li W, Zhang S, Min J, Li Y, Shi L, Woods J, Chen X, Shi Y, Liu Y, Hess RA, Song S, Zhang Z. Mouse spermatogenesis-associated protein 1 (SPATA1), an IFT20 binding partner, is an acrosomal protein. Dev Dyn 2020 Apr;249(4):543-555.
- Taylor JF, Schnabel RD, Sutovsky P. Identification of genomic variants causing sperm abnormalities and reduced male fertility. Anim Reprod Sci 2018 Jul;194:57-62.
- 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.
- Schrimpf R, Dierks C, Martinsson G, Sieme H, Distl O. Genome-wide association study identifies phospholipase C zeta 1 (PLCz1) as a stallion fertility locus in Hanoverian warmblood horses. PLoS One 2014;9(10):e109675.
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