Deciphering the genetic basis of male fertility in Italian Brown Swiss dairy cattle

Pacheco, Hendyel Aparecida; Rossoni, Attilio; Cecchinato, Alessio; Peñagaricano, Francisco

doi:10.1038/s41598-022-14889-1

Cited by 10 publications

(10 citation statements)

References 32 publications

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“…Statistical validation of the four most significant ROH segments per chromosome was conducted on the entire population, indicating that these findings are not false-positives resulting from the population structure. Remarkably, the region identified in BTA6 had been previously reported as a region associated with bull fertility in Brown Swiss cattle ( Hiltpold et al, 2020 ; Hiltpold et al, 2021 ; Mapel et al, 2022 ; Pacheco et al, 2022 ). These results suggest that homozygosity might be an important adverse factor for male fertility in cattle.…”

Section: Discussionmentioning

confidence: 75%

Identification of runs of homozygosity associated with male fertility in Italian Brown Swiss cattle

Pacheco

Rossoni²,

Cecchinato

et al. 2023

Front. Genet.

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Intensive selection for improved productivity has been accompanied by an increase in inbreeding rates and a reduction in genetic diversity. The increase in inbreeding tends to impact performance, especially fitness-related traits such as male fertility. Inbreeding can be monitored using runs of homozygosity (ROH), defined as contiguous lengths of homozygous genotypes observed in an individual’s chromosome. The goal of this study was to evaluate the presence of ROH in Italian Brown Swiss cattle and assess its association with bull fertility. First, we evaluated the association between ROH and male fertility using 1,102 Italian Brown Swiss bulls with sire conception rate records and 572 K SNPs spanning the entire genome. Second, we split the entire population into 100 high-fertility and 100 low-fertility bulls to investigate the potential enrichment of ROH segments in the low-fertility group. Finally, we mapped the significant ROH regions to the bovine genome to identify candidate genes associated with sperm biology and male fertility. Notably, there was a negative association between bull fertility and the amount of homozygosity. Four different ROH regions located in chromosomes 6, 10, 11, and 24 were significantly overrepresented in low-fertility bulls (Fisher’s exact test, p-value <0.01). Remarkably, these four genomic regions harbor many genes such as WDR19, RPL9, LIAS, UBE2K, DPF3, 5S-rRNA, 7SK, U6, and WDR7 that are related to sperm biology and male fertility. Overall, our findings suggest that inbreeding and increased homozygosity have a negative impact on male fertility in Italian Brown Swiss cattle. The quantification of ROH can contribute to minimizing the inbreeding rate and avoid its negative effect on fitness-related traits, such as male fertility.

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Section: Discussionmentioning

confidence: 75%

Identification of runs of homozygosity associated with male fertility in Italian Brown Swiss cattle

Pacheco

Rossoni²,

Cecchinato

et al. 2023

Front. Genet.

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“…GTPases are a class of enzymes involved in intracellular signaling and regulation of various cellular processes, including cell growth, differentiation, and vesicular transport ( https://www.ebi.ac.uk/QuickGO/term/GO:0005085 ). The GEF was reported to be associated with male fertility in Italian Brown Swiss cattle [ 40 ].…”

Section: Resultsmentioning

confidence: 99%

Genetic factors influencing milk and fat yields in tropically adapted dairy cattle: insights from quantitative trait loci analysis and gene associations

Laodim,

Koonawootrittriron,

Elzo

et al. 2024

Anim Biosci

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Objective: The objective of this study was to identify genes associated with 305-day milk yield (MY) and fat yield (FY) that also influence the adaptability of the Thai multibreed dairy cattle population to tropical conditions.Methods: A total of 75,776 imputed and actual single nucleotide polymorphisms (SNPs) from 2,661 animals were used to identify genomic regions associated with MY and FY using the single-step genomic best linear unbiased predictions. Fixed effects included herd-yearseason, breed regression, heterosis regression and calving age regression effects. Random effects were animal additive genetic and residual. Individual SNPs with a p-value smaller than 0.05 were selected for gene mapping, function analysis, and quantitative trait loci (QTL) annotation analysis.Results: A substantial number of QTLs associated with MY (9,334) and FY (8,977) were identified by integrating SNP genotypes and QTL annotations. Notably, we discovered 17 annotated QTLs within the health and exterior QTL classes, corresponding to nine unique genes. Among these genes, Rho GTPase activating protein 15 (<i>ARHGAP15</i>) and catenin alpha 2 (<i>CTNNA2</i>) have previously been linked to physiological traits associated with tropical adaptation in various cattle breeds. Interestingly, these two genes also showed signs of positive selection, indicating their potential role in conferring tolerance to trypanosomiasis, a prevalent tropical disease.Conclusion: Our findings provide valuable insights into the genetic basis of MY and FY in the Thai multibreed dairy cattle population, shedding light on the underlying mechanisms of tropical adaptation. The identified genes represent promising targets for future breeding strategies aimed at improving milk and fat production while ensuring resilience to tropical challenges. This study significantly contributes to our understanding of the genetic factors influencing milk production and adaptability in dairy cattle, facilitating the development of sustainable genetic selection strategies and breeding programs in tropical environments.

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“…Consequently, ejaculated sperm is subjected to quality control. To determine ejaculate quality and predict fertilizing ability, bulls are regularly evaluated by measuring sperm structural and functional traits including concentration, motility, viability, and morphology [ 3 , 4 , 5 ]. Heritability of these traits is low to moderate.…”

Section: Introductionmentioning

confidence: 99%

MicroRNAs and Their Associated Genes Regulating the Acrosome Reaction in Sperm of High- versus Low-Fertility Holstein Bulls

Kasimanickam,

Kasimanickam

2024

Animals

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Bioinformatics envisage experimental data as illustrated biological networks, exploring roles of individual proteins and their interactions with other proteins in regulation of biological functions. The objective was to identify differentially expressed miRNAs and their associated genes regulating the acrosome reaction in capacitated sperm of high- compared to low-fertility dairy bulls and to elucidate biological functional pathways using a systems biology approach, featuring miRNA–mRNA cluster analysis. Categorized bovine-specific miRNAs (n = 84) were analyzed by RT-PCR; 19 were differentially expressed in high- compared to low-fertility sperm (p ≤ 0.05, fold regulation ≥ 2 magnitudes). Six miRNAs (bta-miR-129-5p, bta-miR-193a-3p, bta-miR-217, bta-mir-296-5p, bta-miR-27a, and bta-miR-320a) were highly upregulated (p < 0.05; fold regulation ≥ 5 magnitudes) in high- compared to low-fertility sperm. Highly scored integrated genes of differentially expressed miRNAs predicted associations with pathways regulating acrosome vesicle exocytosis, acrosome reaction, and sperm-oocyte binding. The mRNA expressions of genes associated with the acrosome reaction (including hub genes) were greater, ranging from 2.0 to 9.1-fold (p < 0.05) in high- compared to low-fertility capacitated bull sperm. In conclusion, differentially expressed miRNAs in high-fertility bovine sperm regulating acrosome functions have potential for predicting bull fertility.

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Deciphering the genetic basis of male fertility in Italian Brown Swiss dairy cattle

Cited by 10 publications

References 32 publications

Identification of runs of homozygosity associated with male fertility in Italian Brown Swiss cattle

Identification of runs of homozygosity associated with male fertility in Italian Brown Swiss cattle

Genetic factors influencing milk and fat yields in tropically adapted dairy cattle: insights from quantitative trait loci analysis and gene associations

MicroRNAs and Their Associated Genes Regulating the Acrosome Reaction in Sperm of High- versus Low-Fertility Holstein Bulls

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