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<p>Reproductive efficiency is vital for dairy industry profitability, yet the genetic basis of bull fertility remains underexplored. This study employed high-throughput sequencing to investigate single nucleotide polymorphisms (SNPs) within fertility quantitative trait loci (QTLs) in bulls with contrasting fertility profiles. In this study, a total of 31,631 genome-wide SNPs were identified, of which 23,674 resided within fertility QTL s. Among these, 198 and 192 significant variants were associated with high-fertility (HF) and low-fertility (LF) bulls, respectively. HF bulls exhibited 599 unique SNPs within QTLs linked to pathways critical for sperm maturation, capacitation, and fertilization competence, such as the WNT signaling pathway, exocytosis, and calcium regulation. Conversely, LF bulls harbored 578 unique SNPs, including mutations in DNA repair genes like NHEJ1 and WRN, potentially compromising genetic stability and increasing apoptosis. Functional annotations highlighted key mutations in genes such as TYR, FYB2, and AP1G2 in HF bulls. TYR, involved in reactive oxygen species (ROS) regulation, emerged as a promising candidate for reducing oxidative damage and enhancing sperm integrity. Validation through ARMS-PCR and Sanger sequencing confirmed these mutations’ relevance. These findings underscore the potential of SNP-based markers for precision breeding and emphasize the need for functional validation across larger populations to improve dairy herd reproductive efficiency.</p>

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Deciphering the Genetic Determinants of Bull Fertility through QTL-Linked SNP Analysis

  • 期刊论文

  • 发表日期：

    2026年3月5日

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  • Manish Kumar Sinha,
  • Pradeep Nag,
  • Arumugam Kumaresan,
  • Thirumala Rao Talluri,
  • John Peter Ebenezer Samuel King,
  • Arsha shaji,
  • Shivanagouda Patil,
  • Anand Kumar Yadav,
  • Kishan Kumar Fataniya,
  • V. Aranganathan

摘要

Reproductive efficiency is vital for dairy industry profitability, yet the genetic basis of bull fertility remains underexplored. This study employed high-throughput sequencing to investigate single nucleotide polymorphisms (SNPs) within fertility quantitative trait loci (QTLs) in bulls with contrasting fertility profiles. In this study, a total of 31,631 genome-wide SNPs were identified, of which 23,674 resided within fertility QTL s. Among these, 198 and 192 significant variants were associated with high-fertility (HF) and low-fertility (LF) bulls, respectively. HF bulls exhibited 599 unique SNPs within QTLs linked to pathways critical for sperm maturation, capacitation, and fertilization competence, such as the WNT signaling pathway, exocytosis, and calcium regulation. Conversely, LF bulls harbored 578 unique SNPs, including mutations in DNA repair genes like NHEJ1 and WRN, potentially compromising genetic stability and increasing apoptosis. Functional annotations highlighted key mutations in genes such as TYR, FYB2, and AP1G2 in HF bulls. TYR, involved in reactive oxygen species (ROS) regulation, emerged as a promising candidate for reducing oxidative damage and enhancing sperm integrity. Validation through ARMS-PCR and Sanger sequencing confirmed these mutations’ relevance. These findings underscore the potential of SNP-based markers for precision breeding and emphasize the need for functional validation across larger populations to improve dairy herd reproductive efficiency.