Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population

Hiltpold, Maya; Kadri, Naveen Kumar; Janett, F.; Witschi, Ulrich; Schmitz‐Hsu, F.; Pausch, Hubert

doi:10.1101/2020.12.11.421354

Cited by 2 publications

(8 citation statements)

References 76 publications

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“…Imputed high-density genotypes of 33,045 cattle were used to assign the 1-bp deletion to a haplotype. Briefly, these 33,045 cattle were genotyped using different Illumina SNP microarrays [4]. Following quality control, the genotypes were imputed to a density of 683,903 SNPs with Beagle [20] using a reference panel of 1166 cattle that had BovineHD genotypes.…”

Section: Identification Of Haplotype Carriers In the Populationmentioning

confidence: 99%

“…Genome-wide association testing revealed quantitative trait loci (QTL) for semen quality and male fertility in various breeds of cattle, many of them expressing non-additive effects [4][5][6]. The routine evaluation and recording of tens of thousands of ejaculates and millions of artificial inseminations also occasionally detect bulls with aberrant semen quality or strikingly low insemination success rates.…”

Section: Introductionmentioning

confidence: 99%

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A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities

et al. 2022

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Background Semen quality and insemination success are monitored in artificial insemination bulls to ensure high male fertility rates. Only ejaculates that fulfill minimum quality requirements are processed and eventually used for artificial inseminations. We examined 70,990 ejaculates from 1343 Brown Swiss bulls to identify bulls from which all ejaculates were rejected due to low semen quality. This procedure identified a bull that produced 12 ejaculates with an aberrantly small number of sperm (0.2 ± 0.2 × 109 sperm per mL) which were mostly immotile due to multiple morphological abnormalities. Results The genome of this bull was sequenced at a 12× coverage to investigate a possible genetic cause. Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. This 1-bp deletion causes a frameshift in translation and a premature termination codon (ENSBTAP00000018337.1:p.Cys1644AlafsTer52). The analysis of testis transcriptomes from 76 bulls showed that the transcript with the premature termination codon is subject to nonsense-mediated mRNA decay. The 1-bp deletion resides in a 675-kb haplotype that includes 181 single nucleotide polymorphisms (SNPs) from the Illumina BovineHD Bead chip. This haplotype segregates at a frequency of 5% in the Brown Swiss cattle population. Our analysis also identified another bull that carried the 1-bp deletion in the homozygous state. Semen analyses from the second bull confirmed low sperm concentration and immotile sperm with multiple morphological abnormalities that primarily affect the sperm flagellum and, to a lesser extent, the sperm head. Conclusions A recessive loss-of-function allele of the bovine QRICH2 gene likely causes low sperm concentration and immotile sperm with multiple morphological abnormalities. Routine sperm analyses unambiguously identify homozygous bulls for this allele. A direct gene test can be implemented to monitor the frequency of the undesired allele in cattle populations.

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Section: Identification Of Haplotype Carriers In the Populationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities

et al. 2022

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show abstract

“…Sequence variant and partially imputed Illumina BovineHD genotypes, respectively, of 285 and 33,045 cattle were used to assign the 1-bp deletion onto a haplotype. Briefly, 33,045 cattle were genotyped using different Illumina SNP microarrays [4]. Following quality control, the genotypes were imputed to a density of 683,903 SNPs with Beagle [20] using a reference panel of 1166 cattle that had BovineHD genotypes.…”

Section: Identification Of Haplotype Carriers In the Populationmentioning

confidence: 99%

“…We examined historic semen quality records from a semen collection centre in Switzerland as part of our ongoing efforts to investigate inherited variation in male reproduction in Brown Swiss bulls [1], [4], [32]. Among 1343 Brown Swiss bulls that produced 70,990 ejaculates, we identified seven bulls from which all ejaculates (between 5 and 28 per bull) were rejected due to immotile (asthenozoospermia), morphologically abnormal (teratozoospermia), or absent (azoospermia) sperm, or a combination thereof.…”

Section: Identification Of a Brown Swiss Bull With Poor Semen Qualitymentioning

confidence: 99%

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A 1-bp deletion in bovineQRICH2causes low sperm count and immotile sperm with multiple morphological abnormalities

Hiltpold

Janett

Mapel

et al. 2021

Preprint

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BackgroundSemen quality and male fertility are monitored in artificial insemination bulls to ensure high insemination success rates. Only ejaculates that fulfill minimum quality requirements are processed and eventually used for artificial inseminations. We examined 70,990 ejaculates from 1343 Brown Swiss bulls to identify bulls from which all ejaculates were rejected due to low semen quality. This procedure identified a bull that produced twelve ejaculates with an aberrantly low number of sperm (0.2±0.2 × 109 sperm per ml) which were mostly immotile due to multiple morphological abnormalities.ResultsThe genome of the bull was sequenced at 12-fold coverage to investigate a suspected genetic cause. Comparing the sequence variant genotypes of the bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of QRICH2 encoding glutamine rich 2 as a compelling candidate causal variant. The 1-bp deletion causes a frameshift in translation and induces a premature termination codon (ENSBTAP00000018337.1:p.Cys1644AlafsTer52). The analysis of testis transcriptomes from 76 bulls showed that the transcript with the premature termination codon is subjected to nonsense-mediated mRNA decay. The 1-bp deletion resides on a 675 kb haplotype spanning 181 SNPs from the Illumina BovineHD Bead chip. The haplotype segregates at a frequency of 5% in the Brown Swiss cattle population. This analysis also identified another bull that carried the 1-bp deletion in the homozygous state. Semen analyses from the second bull confirmed low sperm concentration and immotile sperm with multiple morphological abnormalities primarily affecting the sperm flagellum and, to a lesser extent, the sperm head.ConclusionsA recessive loss-of-function allele of bovine QRICH2 likely causes low sperm concentration and immotile sperm with multiple morphological abnormalities. Routine sperm analyses unambiguously identify homozygous bulls. A direct gene test can be implemented to monitor the frequency of the undesired allele in cattle populations.

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Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population

Cited by 2 publications

References 76 publications

A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities

A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities

A 1-bp deletion in bovineQRICH2causes low sperm count and immotile sperm with multiple morphological abnormalities

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