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BACKGROUND: A heterozygous-enriched region (HER) is a genomic region with high variability generated by factors such as balancing selection, introgression, and admixture processes. In this study, we evaluated the genomic background of HERs and the impact of different parameters (i.e., minimum number of SNPs in a HER, maximum distance between two consecutive SNPs, minimum length of a HER, maximum number of homozygous allowed in a HER) and scenarios [i.e., different SNP panel densities and whole-genome sequence (WGS)] on the detection of HERs. We also compared HERs characterized in Holstein cattle with those identified in Angus, Jersey, and Norwegian Red cattle using WGS data. RESULTS: The parameters used for the identification of HERs significantly impact their detection. The maximum distance between two consecutive SNPs did not impact HERs detection as the same average of HERs (269.31 ± 787.00) was observed across scenarios. However, the minimum number of markers, maximum homozygous markers allowed inside a HER, and the minimum length size impacted HERs detection. For the minimum length size, the 10 Kb scenario showed the highest average number of HERs (1,364.69 ± 1,483.64). The number of HERs decreased as the minimum number of markers increased (621.31 ± 1,271.83 to 6.08 ± 21.94), and an opposite pattern was observed for the maximum homozygous markers allowed inside a HER (54.47 ± 195.51 to 494.89 ± 1,169.35). Forty-five HER islands located in 23 chromosomes with high Tajima's D values and differential among the observed and estimated heterozygosity were detected in all evaluated scenarios, indicating their ability to potentially detect regions under balancing selection. In total, 3,440 markers and 28 genes previously related to fertility (e.g., TP63, ZSCAN23, NEK5, ARHGAP44), immunity (e.g., TP63, IGC, ARHGAP44), residual feed intake (e.g., MAYO9A), stress sensitivity (e.g., SERPINA6), and milk fat percentage (e.g., NOL4) were identified. When comparing HER islands among breeds, there were substantial overlaps between Holstein with Angus (95.3%), Jersey (94.3%), and Norwegian Red cattle (97.1%), indicating conserved HER across taurine breeds. CONCLUSIONS: The detection of HERs varied according to the parameters used, but some HERs were consistently identified across all scenarios. Heterozygous genotypes observed across generations and breeds appear to be conserved in HERs. The results presented could serve as a guide for defining HERs detection parameters and further investigating their biological roles in future studies.

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Hoof diseases are a major welfare and economic issue in the global dairy cattle production industry, which can be minimized through improved management and breeding practices. Optimal genetic improvement of hoof health could benefit from a deep understanding of the genetic background and biological underpinning of indicators of hoof health. Therefore, the primary objectives of this study were to perform genome-wide association studies, using imputed high-density genetic markers data from North American Holstein cattle, for 8 hoof-related traits: digital dermatitis, sole ulcer, sole hemorrhage, white line lesion, heel horn erosion, interdigital dermatitis, interdigital hyperplasia, and toe ulcer, and a hoof health index. De-regressed estimated breeding values from 25,580 Holstein animals were used as pseudo-phenotypes for the association analyses. The genomic quality control, genotype phasing, and genotype imputation were performed using the PLINK (version 1.9), Eagle (version 2.4.1), and Minimac4 software, respectively. The functional genomic analyses were performed using the GALLO R package and the DAVID platform. We identified 22, 34, 14, 22, 28, 33, 24, 43, and 15 significant markers for digital dermatitis, heel horn erosion, interdigital dermatitis, interdigital hyperplasia, sole hemorrhage, sole ulcer, toe ulcer, white line lesion disease, and the hoof health index, respectively. The significant markers were located across all autosomes, except BTA10, BTA12, BTA20, BTA26, BTA27, and BTA28. Moreover, the genomic regions identified overlap with various previously reported quantitative trait loci for exterior, health, meat and carcass, milk, production, and reproduction traits. The enrichment analyses identified 44 significant gene ontology terms. These enriched genomic regions harbor various candidate genes previously associated with bone development, metabolism, and infectious and immunological diseases. These findings indicate that hoof health traits are highly polygenic and influenced by a wide range of biological processes.

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BACKGROUND: Given the economic relevance of fertility and reproductive traits for the beef cattle industry, investigating their genetic background and developing effective breeding strategies are paramount. Considering their late and sex-dependent phenotypic expression, genomic information can contribute to speed up the rates of genetic progress per year. In this context, the main objectives of this study were to estimate variance components and genetic parameters, including heritability and genetic correlations, for fertility, female precocity, and semen production and quality (andrological attributes) traits in Nellore cattle incorporating genomic information. RESULTS: The heritability estimates of semen quality traits were low-to-moderate, while moderate-to-high estimates were observed for semen morphological traits. The heritability of semen defects ranged from low (0.04 for minor semen defects) to moderate (0.30 for total semen defects). For seminal aspect (SMN_ASPC) and bull reproductive fitness (BULL_FIT), low (0.19) and high (0.69) heritabilities were observed, respectively. The heritability estimates for female reproductive traits ranged from 0.16 to 0.39 for rebreeding of precocious females (REBA) and probability of pregnancy at 14 months (PP14), respectively. Semen quality traits were highly genetically correlated among themselves. Moderate-to-high genetic correlations were observed between the ability to remain productive in the herd until four years of age (stayability; STAY) and the other reproductive traits, indicating that selection for female reproductive performance will indirectly contribute to increasing fertility rates. High genetic correlations between BULL_FIT and female reproductive traits related to precocity (REBA and PP14) and STAY were observed. The genetic correlations between semen quality and spermatic morphology with female reproductive traits ranged from -0.22 (REBA and scrotal circumference) to 0.48 (REBA and sperm vigor). In addition, the genetic correlations between REBA with semen quality traits ranged from -0.23 to 0.48, and with the spermatic morphology traits it ranged from -0.22 to 0.19. CONCLUSIONS: All male and female fertility and reproduction traits evaluated are heritable and can be improved through direct genetic or genomic selection. Selection for better sperm quality will positively influence the fertility and precocity of Nellore females. The findings of this study will serve as background information for designing breeding programs for genetically improving semen production and quality and reproductive performance in Nellore cattle.

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The number of dairy farms adopting automatic milking systems (AMS) has considerably increased around the world aiming to reduce labor costs, improve cow welfare, increase overall performance, and generate a large amount of daily data, including production, behavior, health, and milk quality records. In this context, this study aimed to (1) estimate genomic-based variance components for milkability traits derived from AMS in North American Holstein cattle based on random regression models; and (2) derive and estimate genetic parameters for novel behavioral indicators based on AMS-derived data. A total of 1,752,713 daily records collected using 36 milking robot stations and 70,958 test-day records from 4,118 genotyped Holstein cows were used in this study. A total of 57,600 SNP remained after quality control. The daily-measured traits evaluated were milk yield (MY, kg), somatic cell score (SCS, score unit), milk electrical conductivity (EC, mS), milking efficiency (ME, kg/min), average milk flow rate (FR, kg/min), maximum milk flow rate (FRM, kg/min), milking time (MT, min), milking failures (MFAIL), and milking refusals (MREF). Variance components and genetic parameters for MY, SCS, ME, FR, FRM, MT, and EC were estimated using the AIREMLF90 software under a random regression model fitting a third-order Legendre orthogonal polynomial. A threshold Bayesian model using the THRGIBBS1F90 software was used for genetically evaluating MFAIL and MREF. The daily heritability estimates across days in milk (DIM) ranged from 0.07 to 0.28 for MY, 0.02 to 0.08 for SCS, 0.38 to 0.49 for EC, 0.45 to 0.56 for ME, 0.43 to 0.52 for FR, 0.47 to 0.58 for FRM, and 0.22 to 0.28 for MT. The estimates of heritability (± SD) for MFAIL and MREF were 0.02 ± 0.01 and 0.09 ± 0.01, respectively. Slight differences in the genetic correlations were observed across DIM for each trait. Strong and positive genetic correlations were observed among ME, FR, and FRM, with estimates ranging from 0.94 to 0.99. Also, moderate to high and negative genetic correlations (ranging from -0.48 to -0.86) were observed between MT and other traits such as SCS, ME, FR, and FRM. The genetic correlation (± SD) between MFAIL and MREF was 0.25 ± 0.02, indicating that both traits are influenced by different sets of genes. High and negative genetic correlations were observed between MFAIL and FR (-0.58 ± 0.02) and MFAIL and FRM (-0.56 ± 0.02), indicating that cows with more MFAIL are those with lower FR. The use of random regression models is a useful alternative for genetically evaluating AMS-derived traits measured throughout the lactation. All the milkability traits evaluated in this study are heritable and have demonstrated selective potential, suggesting that their use in dairy cattle breeding programs can improve dairy production efficiency in AMS.

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Body conformation traits assessed based on visual scores are widely used in Zebu cattle breeding programs. The aim of this study was to identify genomic regions and biological pathways associated with body conformation (CONF), finishing precocity (PREC), and muscling (MUSC) in Nellore cattle. The measurements based on visual scores were collected in 20,807 animals raised in pasture-based systems in Brazil. In addition, 2775 animals were genotyped using a 35 K SNP chip, which contained 31,737 single nucleotide polymorphisms after quality control. Single-step GWAS was performed using the BLUPF90 software while candidate genes were identified based on the Ensembl Genes 69. PANTHER and REVIGO platforms were used to identify key biological pathways and STRING to create gene networks. Novel candidate genes were revealed associated with CONF, including ALDH9A1, RXRG, RAB2A, and CYP7A1, involved in lipid metabolism. The genes associated with PREC were ELOVL5, PID1, DNER, TRIP12, and PLCB4, which are related to the synthesis of long-chain fatty acids, lipid metabolism, and muscle differentiation. For MUSC, the most important genes associated with muscle development were SEMA6A, TIAM2, UNC5A, and UIMC1. The polymorphisms identified in this study can be incorporated in commercial genotyping panels to improve the accuracy of genomic evaluations for visual scores in beef cattle.

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Genome-wide association study (GWAS) is a powerful tool to identify candidate genes and genomic regions underlying key biological mechanisms associated with economically important traits. In this context, the aim of this study was to identify genomic regions and metabolic pathways associated with backfat thickness (BFT) and rump fat thickness (RFT) in Nellore cattle, raised in pasture-based systems. Ultrasound-based measurements of BFT and RFT (adjusted to 18 months of age) were collected in 11,750 animals, with 39,903 animals in the pedigree file. Additionally, 1,440 animals were genotyped using the GGP-indicus 35K SNP chip, containing 33,623 SNPs after the quality control. The single-step GWAS analyses were performed using the BLUPF90 family programs. Candidate genes were identified through the Ensembl database incorporated in the BioMart tool, while PANTHER and REVIGO were used to identify the key metabolic pathways and gene networks. A total of 18 genomic regions located on 10 different chromosomes and harbouring 23 candidate genes were identified for BFT. For RFT, 22 genomic regions were found on 14 chromosomes, with a total of 29 candidate genes identified. The results of the pathway analyses showed important genes for BFT, including TBL1XR1, AHCYL2, SLC4A7, AADAT, VPS53, IDH2 and ETS1, which are involved in lipid metabolism, synthesis of cellular amino acids, transport of solutes, transport between Golgi Complex membranes, cell differentiation and cellular development. The main genes identified for RFT were GSK3ß, LRP1B, EXT1, GRB2, SORCS1 and SLMAP, which are involved in metabolic pathways such as glycogen synthesis, lipid transport and homeostasis, polysaccharide and carbohydrate metabolism. Polymorphisms located in these candidate genes can be incorporated in commercial genotyping platforms to improve the accuracy of imputation and genomic evaluations for carcass fatness. In addition to uncovering biological mechanisms associated with carcass quality, the key gene pathways identified can also be incorporated in biology-driven genomic prediction methods.

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Abstract Background: Somatic cell score is an important parameter to predict milk quality and health of cows. However, in countries like Brazil, this trait is still not selected on a large scale, and no genetic parameters are reported in the literature. Objective: To estimate the variance components and genetic parameters for somatic cell score, milk yield, fat yield, protein yield, fat percentage, and protein percentage in Holstein cows. Methods: Records from 56,718 animals were used to estimate variance components, heritability, and genetic correlations using a multi-trait animal model by the REML method. Results: The heritability estimates were 0.19 for somatic cell score, 0.22 for milk yield, 0.26 for fat yield, 0.18 for protein yield, 0.61 for fat percentage, and 0.65 for protein percentage. The estimates of genetic correlations among analyzed traits ranged from -0.50 to 0.82. Conclusion: The low heritability observed for somatic cell score indicates that selection for this trait should result in benefits related to animal health and milk quality, but only in the long term. The low correlation between productive traits and somatic cell score indicates that inclusion of somatic cell score in animal breeding programs does not interfere negatively with the genetic selection for milk yield or solids.

Resumen Antecedentes: El conteo de células somáticas es un parámetro importante para predecir la calidad de la leche y la salud de las vacas. Sin embargo, en países como Brasil, esta característica aún no se selecciona a gran escala y no se reportan parámetros genéticos en la literatura. Objetivo: Estimar los componentes de varianza y parámetros genéticos para el conteo de células somáticas, producción de leche, producción de grasa, producción de proteína, porcentaje de grasa y porcentaje de proteína en vacas de la raza Holstein. Métodos: Se usaron registros de 56.718 animales para estimar los componentes de la varianza, heredabilidad y correlaciones genéticas usando un modelo animal multicaracterístico por medio del método REML. Resultados: Las estimaciones de heredabilidad fueron 0,19 para el conteo de células somáticas, 0,22 para la producción de leche, 0,26 para la producción de grasa, 0,18 para producción de proteína, 0,61 para el porcentaje de grasa y 0,65 para el porcentaje de proteína. Las estimaciones de correlación genética entre las características analizadas variaron entre -0,50 a 0,82. Conclusión: La baja heredabilidad encontrada para conteo de células somáticas demostró que la selección para esta característica podría resultar en beneficios para la salud animal y calidad de la leche, pero sólo a largo plazo. La baja correlación genética existente entre las características productivas y el conteo de células somáticas indica que la inclusión del conteo de células somáticas en programas de selección no interfiere negativamente en la selección genética para la producción de leche o sólidos.

Resumo Antecedentes: O escore de células somáticas é um parâmetro importante para a predição da qualidade do leite, bem como para a saúde das vacas. No entanto, em alguns países como o Brasil, essa característica não é selecionada em larga escala e não há parâmetros genéticos disponíveis na literatura. Objetivo: Estimar os componentes de variância e parâmetros genéticos para o escore de células somáticas, produção de leite, produção de gordura, produção de proteína, porcentagem de gordura e porcentagem de proteína em vacas da raça Holandesa. Métodos: Foi utilizado um total de 56.718 animais para estimar os componentes de variância, herdabilidade e correlações genéticas, considerando-se o modelo animal multicaracterística por meio do método REML. Resultados: As estimativas de herdabilidade foram de 0,19 para o escore de células somáticas, 0,22 para a produção de leite, 0,26 para a produção de gordura, 0,18 para produção de proteína, 0,61 para a porcentagem de gordura e 0,65 para a porcentagem de proteína. As estimativas de correlação genética entre as características analisadas variaram entre -0,50 a 0,82. Conclusão: A baixa herdabilidade encontrada para o escore de células somáticas demonstrou que a seleção para esta característica poderá resultar em benefícios para a saúde animal e qualidade do leite, porém, somente a longo prazo. A baixa correlação genética existente entre as características produtivas e o escore de células somáticas demonstrou que a inclusão do escore de células somáticas em programas de seleção não causa interferência negativa na seleção genética para a produção de leite ou sólidos.