Genetic parameters for semen production traits in Swiss dairy bulls

Burren, Alexander; Joerg, H.; Erbe, Malena; Gilmour, A.; Witschi, Ulrich; Schmitz‐Hsu, F.

doi:10.1111/rda.13492

Cited by 14 publications

(14 citation statements)

References 12 publications

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“…Most of these associations are in agreement with those of other studies, particularly the relationships between anomalies and motility, motility and volume, and volume and concentration (Ducrocq and Humblot, 1995;Druet et al, 2009;Karoui et al, 2011). We did not recover other frequently observed relationships, such as a positive correlation between motility and concentration (Berry et al, 2019; Burren et al, 2019;Olsen et al, 2020). However, a majority of these studies have investigated the relationships among semen quality parameters in small samples of AI bulls, and thus inferred correlation coefficients with large standard errors.…”

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confidence: 91%

Bull fertility and semen quality are not correlated with dairy and production traits in Brown Swiss cattle

et al. 2022

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Undisturbed reproduction is key for successful breeding of beef and dairy cattle. Improving reproductive ability can be difficult because of antagonistic relationships with other economically relevant traits. In cattle, thorough investigation of female fertility revealed unfavorable genetic correlations with various production phenotypes. However, the correlation between male reproductive ability and production traits remains poorly understood. Here, we investigated the genetic relationships among and between male fertility characteristics and economically relevant traits in a population of Brown Swiss cattle. We performed GWAS with imputed genotypes at nearly 12 million sequence variants for semen quality (sperm head and tail anomalies, motility, concentration, and volume), male fertility, and 57 production phenotypes. Allele substitution effects were then correlated on a trait-by-trait basis to estimate genetic correlations. Correlations between male reproductive characteristics and traits of economic value were small and ranged from −0.0681 to 0.0787. Among the semen quality parameters, sperm motility was negatively correlated with anomalies (head: r = −0.7083 ± 0.0002; tail: r = −0.7739 ± 0.0002) and volume (r = −0.1266 ± 0.0003), whereas volume was negatively correlated with concentration (r = −0.3503 ± 0.0002). Sire nonreturn rate was negatively correlated with sperm anomalies (head: r = −0.1640 ± 0.0002; tail: r = −0.1580 ± 0.0002) and positively correlated with motility (r = 0.1598 ± 0.0002). A meta-analysis of male reproductive traits identified 2 quantitative trait loci: a previously described region on chromosome 6 showed pleiotropic effects and a novel region on chromosome 11 was associated with sperm head anomalies. In conclusion, our results suggest that selection for economically important dairy and production phenotypes has little impact on semen quality and fertility of Brown Swiss bulls.

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confidence: 91%

Bull fertility and semen quality are not correlated with dairy and production traits in Brown Swiss cattle

et al. 2022

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“…Discarding ejaculates that do not comply with the requirements for AI may have reduced the amount of genetic variation that is amenable for association testing, thus possibly reducing the statistical power to detect QTL with small effects at a stringent Bonferroni-corrected significance thresholds. Moreover, the heritability of semen quality was less than 0.26 for all traits considered, which agrees with previous results in cattle [14][15][16][17][18]. The detection of QTL with small to medium effects for traits with low heritability requires large mapping populations [41].…”

Section: Discussionsupporting

confidence: 90%

“…The heritability of bull fertility varies greatly between studies and breeds, ranging from 0 in Italian Brown Swiss to 0.28 in Jersey cattle [11][12][13]. Semen traits that are routinely recorded at AI centers have higher heritability than bull fertility [14][15][16][17][18]. Traits that are routinely assessed from fresh ejaculates include semen volume, sperm concentration, sperm motility, and the proportion of sperm with head and tail anomalies.…”

Section: Introductionmentioning

confidence: 99%

Activation of cryptic splicing in bovineWDR19is associated with reduced semen quality and male fertility

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Kadri

et al. 2020

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Cattle are uniquely suited to investigate the genetics of male reproduction disorders, as semen quality and fertility are recorded for all ejaculates of artificial insemination bulls. Using 26,090 ejaculates of 794 Brown Swiss bulls, we analysed ejaculate volume, sperm concentration, sperm motility, sperm head and tail anomalies, and bull fertility. The heritability of the six semen traits was between 0 and 0.26. Genome-wide association testing between semen quality and 607,511 SNPs reveaed a QTL on bovine chromosome 6 that was associated with sperm motility (P = 2.5 x 10 -27 ), head (P = 2.0 x 10 -44 ) and tail anomalies (P = 7.2 x 10 -49 ) and insemination success (P = 9.9 x 10 -13 ). The QTL harbors a recessive allele that compromises semen quality and male fertility. We replicated the effect of the QTL on fertility (P = 7.1 x 10 -32 ) in 2481 bulls from an independent cohort of Brown Swiss bulls. The analysis of whole-genome sequencing data revealed that a synonymous variant (BTA6:58373887C>T, rs474302732) in WDR19 encoding WD repeat-containing protein 19 was in linkage disequilibrium with the fertility-associated haplotype. WD repeat-containing protein 19 is a constituent of the intraflagellar transport complex that is essential for the physiological function of motile cilia and flagella. Bioinformatic and transcription analyses showed that the BTA6:58373887 T-allele activates a cryptic splice site that eliminates three evolutionarily conserved amino acids from the WD-repeat domain, thus reducing semen quality and fertility. Western blot analysis demonstrated that the BTA6:58373887 T-allele decreases the WDR19 protein expression. We make the remarkable observation that, in spite of negative effects on semen quality and bull fertility, the deleterious allele has a frequency of 24 % in the Brown Swiss population. Our findings are the first to uncover a variant that controls quantitative variation in semen quality and male fertility in cattle. Author summaryMale reproductive disorders occur in many species. In cattle farming, artificial insemination is widely used. To ensure high fertilization rates, the quality of each ejaculate is recorded and the insemination success is monitored for every artificial insemination bull. We analyse semen quality and microarray-called genotypes at more than 600,000 genome-wide SNP markers in 794 bulls to identify a recessive allele that compromises semen quality and fertility. We take advantage of whole-genome sequencing to pinpoint a variant in the coding sequence of WDR19 encoding WD repeat-containing protein 19 that activates a novel exonic splice site. Our results indicate that cryptic splicing in WDR19 is associated with reduced male reproductive performance in cattle. This is the first report to reveal a variant associated with quantitative variation in bovine semen quality.

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“…Our rigorous approach to retain only ejaculates that comply with the requirements of AI may have reduced the amount of genetic variation that is amenable to association testing, thus possibly reducing the statistical power to detect QTL with small effects. Moreover, the heritability was less than 0.26 for all semen quality traits considered, which corroborates previous results in cattle [9][10][11][12]. Repeatability was higher than heritability indicating that the semen quality of AI bulls is markedly influenced by permanent environmental effects that may also capture non-additive genetic effects [46], which agrees with previous findings in boars and bulls [9], [47].…”

Section: Discussionsupporting

confidence: 90%

“…However, the heritability of bull fertility is low [6][7][8]. Semen traits that are routinely recorded at AI centers such as have higher heritability than bull fertility [9][10][11][12]. Traits that are routinely assessed from fresh ejaculates include semen volume, sperm concentration, sperm motility, and the proportion of sperm with head and tail anomalies.…”

Section: Introductionmentioning

confidence: 99%

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

et al. 2020

Self Cite

View full text Add to dashboard Cite

Cattle are ideally suited to investigate the genetics of male reproduction, because semen quality and fertility are recorded for all ejaculates of artificial insemination bulls. We analysed 26,090 ejaculates of 794 Brown Swiss bulls to assess ejaculate volume, sperm concentration, sperm motility, sperm head and tail anomalies and insemination success. The heritability of the six semen traits was between 0 and 0.26. Genome-wide association testing on 607,511 SNPs revealed a QTL on bovine chromosome 6 that was associated with sperm motility (P = 2.5 x 10 −27), head (P = 2.0 x 10 −44) and tail anomalies (P = 7.2 x 10 −49) and insemination success (P = 9.9 x 10 −13). The QTL harbors a recessive allele that compromises semen quality and male fertility. We replicated the effect of the QTL on fertility (P = 7.1 x 10 −32) in an independent cohort of 2481 Brown Swiss bulls. The analysis of wholegenome sequencing data revealed that a synonymous variant (BTA6:58373887C>T, rs474302732) in WDR19 encoding WD repeat-containing protein 19 was in linkage disequilibrium with the fertility-associated haplotype. WD repeat-containing protein 19 is a constituent of the intraflagellar transport complex that is essential for the physiological function of motile cilia and flagella. Bioinformatic and transcription analyses revealed that the BTA6:58373887 T-allele activates a cryptic exonic splice site that eliminates three evolutionarily conserved amino acids from WDR19. Western blot analysis demonstrated that the BTA6:58373887 T-allele decreases protein expression. We make the remarkable observation that, in spite of negative effects on semen quality and bull fertility, the BTA6:58373887 T-allele has a frequency of 24% in the Brown Swiss population. Our findings are the first to uncover a variant that is associated with quantitative variation in semen quality and male fertility in cattle.

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Genetic parameters for semen production traits in Swiss dairy bulls

Cited by 14 publications

References 12 publications

Bull fertility and semen quality are not correlated with dairy and production traits in Brown Swiss cattle

Bull fertility and semen quality are not correlated with dairy and production traits in Brown Swiss cattle

Activation of cryptic splicing in bovineWDR19is associated with reduced semen quality and male fertility

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

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