Related Experiment Video
Updated: Nov 4, 2025
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.4K
Targeted sequencing reveals candidate causal variants for dairy bull subfertility
R Abdollahi-Arpanahi1, H A Pacheco1,2, F Peñagaricano1,2
1Department of Animal Sciences, University of Florida, Gainesville, FL, USA.
Animal Genetics
|May 24, 2021
Summary
Researchers identified genetic variants affecting bull fertility in Holstein cattle. These findings could lead to genomic tools for early detection of subfertile bulls, improving herd reproductive efficiency.
Area of Science:
- Animal Genetics
- Reproductive Biology
- Genomics
Background:
- Bull fertility significantly impacts dairy cattle reproductive efficiency.
- Subfertile bulls can negatively affect herd reproductive performance due to widespread artificial insemination.
- Previous studies identified five genomic regions with major dominance effects on bull fertility.
Purpose of the Study:
- To identify candidate causal variants within previously identified genomic regions associated with bull fertility.
- To pinpoint specific genetic mutations responsible for variations in sire conception rate.
Main Methods:
- Targeted DNA sequencing of five specific genomic regions in high-fertility and low-fertility Holstein bulls.
- Construction of DNA pools for sequencing analysis.
- Bioinformatic analysis including quality control, genome alignment, variant calling, and annotation.
Main Results:
- Identification of various mutations (nonsense, missense, frameshift) in low-fertility bulls.
- Discovery of strong candidate causal variants with deleterious effects on genes highly expressed in the testis.
- Key affected genes include AK9, TTLL9, TCHP, and FOXN4.
Conclusions:
- Genetic variants, particularly deleterious mutations in testis-expressed genes, are linked to reduced bull fertility.
- These findings support the development of genomic tools for early identification and management of subfertile bulls.
- Improved bull fertility management can enhance overall dairy herd reproductive success.
