Identification of genomic regions associated with total and progressive sperm motility in Italian Holstein bulls

Ramirez-Diaz, J.; Cenadelli, S.; Bornaghi, V.; Bongioni, G.; Montedoro, S.M.; Achilli, Alessandro; Capelli, Cristian; Rincón, Juan Carlos; Milanesi, Marco; Passamonti, Marco; Colli, Licia; Barbato, Mario; Williams, J. L.; Marsan, P. Ajmone

doi:10.3168/jds.2021-21700

Cited by 14 publications

(14 citation statements)

References 80 publications

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“…In the 26.92–32.60 Mb of Chr23, the most significant SNPs were in three genes with unknown functions, LOC537017 , LOC101905956 , and C23H6orf10 ( Table 1 ). This relatively large chromosome region (6.32 Mb in size) had multiple genes with or near highly significant SNP effects (log 10 (1/ p ) > 20), but only the non-classical MHC class I gene of BOLA-NC1 was reported to affect reproduction [ 10 , 11 , 12 , 13 ].The significant SNP closest to BOLA-NC1 was rs110855962 with log 10 (1/ p ) = 21.02 ( Figure 1 d).…”

Section: Resultsmentioning

confidence: 99%

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

Prakapenka

Liang

2023

IJMS

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A genome-wide association study (GWAS) of age at first calving (AFC) using 813,114 first lactation Holstein cows and 75,524 SNPs identified 2063 additive effects and 29 dominance effects with p-values < 10−8. Three chromosomes had highly significant additive effects in the regions of 7.86–8.12 Mb of Chr15, 27.07–27.48 Mb and 31.25–32.11 Mb of Chr19, and 26.92–32.60 Mb of Chr23. Two of the genes in those regions were reproductive hormone genes with known biological functions that should be relevant to AFC, the sex hormone binding globulin (SHBG) gene, and the progesterone receptor (PGR) gene. The most significant dominance effects were near or in EIF4B and AAAS of Chr05 and AFF1 and KLHL8 of Chr06. All dominance effects were positive overdominance effects where the heterozygous genotype had an advantage, and the homozygous recessive genotype of each SNP had a very negative dominance value. Results from this study provided new evidence and understanding about the genetic variants and genome regions affecting AFC in U.S. Holstein cows.

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Section: Resultsmentioning

confidence: 99%

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

Prakapenka

Liang

2023

IJMS

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“…Interestingly, a signature of selection on chromosome 6, identified in the ROH analysis, encompasses several genes that are linked to milk production, such as ABCG2 [ 30 – 32 ], HERC3 [ 33 , 34 ], and HERC6 [ 35 , 36 ]. In addition, it includes genes associated with meat-related traits, such as FAM184B [ 37 – 40 ] and NCAPG [ 40 – 42 ]. The LAP3 gene, which plays a role in hormone level regulation and protein maturation, has previously been associated with body conformation and carcass traits, growth, calving ease and milk production traits in cattle [ 41 , 43 – 47 , 49 ].…”

Section: Discussionmentioning

confidence: 99%

Genetic legacy and adaptive signatures: investigating the history, diversity, and selection signatures in Rendena cattle resilient to eighteenth century rinderpest epidemics

Somenzi,

Partel,

Barbato

et al. 2024

Genet Sel Evol

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Background Rendena is a dual-purpose cattle breed, which is primarily found in the Italian Alps and the eastern areas of the Po valley, and recognized for its longevity, fertility, disease resistance and adaptability to steep Alpine pastures. It is categorized as 'vulnerable to extinction' with only 6057 registered animals in 2022, yet no comprehensive analyses of its molecular diversity have been performed to date. The aim of this study was to analyse the origin, genetic diversity, and genomic signatures of selection in Rendena cattle using data from samples collected in 2000 and 2018, and shed light on the breed's evolution and conservation needs. Results Genetic analysis revealed that the Rendena breed shares genetic components with various Alpine and Po valley breeds, with a marked genetic proximity to the Original Braunvieh breed, reflecting historical restocking efforts across the region. The breed shows signatures of selection related to both milk and meat production, environmental adaptation and immune response, the latter being possibly the result of multiple rinderpest epidemics that swept across the Alps in the eighteenth century. An analysis of the Rendena cattle population spanning 18 years showed an increase in the mean level of inbreeding over time, which is confirmed by the mean number of runs of homozygosity per individual, which was larger in the 2018 sample. Conclusions The Rendena breed, while sharing a common origin with Brown Swiss, has developed distinct traits that enable it to thrive in the Alpine environment and make it highly valued by local farmers. Preserving these adaptive features is essential, not only for maintaining genetic diversity and enhancing the ability of this traditional animal husbandry to adapt to changing environments, but also for guaranteeing the resilience and sustainability of both this livestock system and the livelihoods within the Rendena valley.

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“…The TLE4 gene encodes a transcriptional corepressor involved in Wnt signaling. It shows testis-specific splicing variants [ 37 ] and has been associated with the genetic variance in total sperm motility and progressive motility in Italian Holstein Bulls [ 38 ]. The region at the beginning of chromosome 3 harbors a number of genes that may be related to total sperm number through their described roles in spermatogenesis ( FOXL3 , GPER1 , PDGFA , PRKAR1B , SUN1 ) [ 22 , 39 , 40 ] and sperm motility ( DNAAF5 , GPER1 ) [ 22 , 40 ].…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Association Analysis of Semen Characteristics in Piétrain Boars

Reyer,

Abou-Soliman,

Schulze

et al. 2024

Genes

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Since artificial insemination is common practice in pig breeding, the quality and persistence of the semen are decisive for the usability of individual boars. In the current study, genome-wide association analyses were performed to investigate the genetic variability underlying phenotypic variations in semen characteristics. These traits comprise sperm morphology and sperm motility under different temporal and thermal storage conditions, in addition to standard semen quality parameters. Two consecutive samples of the fourth and fifth ejaculates from the same boar were comprehensively analyzed in a genotyped Piétrain boar population. A total of 13 genomic regions on different chromosomes were identified that contain single-nucleotide polymorphisms significantly associated with these traits. Subsequent analysis of the genomic regions revealed candidate genes described to be involved in spermatogenesis, such as FOXL3, GPER1, PDGFA, PRKAR1B, SNRK, SUN1, and TSPO, and sperm motility, including ARRDC4, CEP78, DNAAF5, and GPER1. Some of these genes were also associated with male fertility or infertility in mammals (e.g., CEP78, GPER1). The analyses based on these laboriously determined and valuable phenotypes contribute to a better understanding of the genetic background of male fertility traits in pigs and could prospectively contribute to the improvement of sperm quality through breeding approaches.

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Identification of genomic regions associated with total and progressive sperm motility in Italian Holstein bulls

Cited by 14 publications

References 80 publications

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

Genetic legacy and adaptive signatures: investigating the history, diversity, and selection signatures in Rendena cattle resilient to eighteenth century rinderpest epidemics

Genome-Wide Association Analysis of Semen Characteristics in Piétrain Boars

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