RESUMO
BACKGROUND: Over the last decades, it was subject of many studies to investigate the genomic connection of milk production and health traits in dairy cattle. Thereby, incorporating functional information in genomic analyses has been shown to improve the understanding of biological and molecular mechanisms shaping complex traits and the accuracies of genomic prediction, especially in small populations and across-breed settings. Still, little is known about the contribution of different functional and evolutionary genome partitioning subsets to milk production and dairy health. Thus, we performed a uni- and a bivariate analysis of milk yield (MY) and eight health traits using a set of ~34,497 German Holstein cows with 50K chip genotypes and ~17 million imputed sequence variants divided into 27 subsets depending on their functional and evolutionary annotation. In the bivariate analysis, eight trait-combinations were observed that contrasted MY with each health trait. Two genomic relationship matrices (GRM) were included, one consisting of the 50K chip variants and one consisting of each set of subset variants, to obtain subset heritabilities and genetic correlations. In addition, 50K chip heritabilities and genetic correlations were estimated applying merely the 50K GRM. RESULTS: In general, 50K chip heritabilities were larger than the subset heritabilities. The largest heritabilities were found for MY, which was 0.4358 for the 50K and 0.2757 for the subset heritabilities. Whereas all 50K genetic correlations were negative, subset genetic correlations were both, positive and negative (ranging from -0.9324 between MY and mastitis to 0.6662 between MY and digital dermatitis). The subsets containing variants which were annotated as noncoding related, splice sites, untranslated regions, metabolic quantitative trait loci, and young variants ranked highest in terms of their contribution to the traits` genetic variance. We were able to show that linkage disequilibrium between subset variants and adjacent variants did not cause these subsets` high effect. CONCLUSION: Our results confirm the connection of milk production and health traits in dairy cattle via the animals` metabolic state. In addition, they highlight the potential of including functional information in genomic analyses, which helps to dissect the extent and direction of the observed traits` connection in more detail.
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Leite , Polimorfismo de Nucleotídeo Único , Animais , Feminino , Bovinos/genética , Fenótipo , Genótipo , Genômica/métodos , Locos de Características Quantitativas , Lactação/genéticaRESUMO
BACKGROUND: Reproductive performance plays an important role in animal welfare, health and profitability in animal husbandry and breeding. It is well established that there is a negative correlation between performance and reproduction in dairy cattle. This relationship is being increasingly considered in breeding programs. By elucidating the genetic architecture of underlying reproduction traits, it will be possible to make a more detailed contribution to this. Our study followed two approaches to elucidate this area; in a first part, variance components were estimated for 14 different calving and fertility traits, and then genome-wide association studies were performed for 13 reproduction traits on imputed sequence-level genotypes with subsequent enrichment analyses. RESULTS: Variance components analyses showed a low to moderate heritability (h2) for the traits analysed, ranging from 0.014 for endometritis up to 0.271 for stillbirth, indicating variable degrees of variation within the reproduction traits. For genome-wide association studies, we were able to detect genome-wide significant association signals for nine out of 13 analysed traits after Bonferroni correction on chromosome 6, 18 and the X chromosome. In total, we detected over 2700 associated SNPs encircling more than 90 different genes using the imputed whole-genome sequence data. Functional associations were reviewed so far known and potential candidate regions in the proximity of reproduction events were hypothesised. CONCLUSION: Our results confirm previous findings of other authors in a comprehensive cohort including 13 different traits at the same time. Additionally, we identified new candidate genes involved in dairy cattle reproduction and made initial suggestions regarding their potential impact, with special regard to the X chromosome as a putative information source for further research. This work can make a contribution to reveal the genetic architecture of reproduction traits in context of trait specific interactions.
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Estudo de Associação Genômica Ampla , Genótipo , Polimorfismo de Nucleotídeo Único , Reprodução , Animais , Bovinos/genética , Reprodução/genética , Genômica/métodos , Feminino , Locos de Características Quantitativas , Fenótipo , Característica Quantitativa Herdável , Fertilidade/genéticaRESUMO
BACKGROUND: Limitations of the concept of identity by descent in the presence of stratification within a breeding population may lead to an incomplete formulation of the conventional numerator relationship matrix ( A ). Combining A with the genomic relationship matrix ( G ) in a single-step approach for genetic evaluation may cause inconsistencies that can be a source of bias in the resulting predictions. The objective of this study was to identify stratification using genomic data and to transfer this information to matrix A , to improve the compatibility of A and G . METHODS: Using software to detect population stratification (ADMIXTURE), we developed an iterative approach. First, we identified 2 to 40 strata ( k ) with ADMIXTURE, which we then introduced in a stepwise manner into matrix A , to generate matrix A Γ using the metafounder methodology. Improvements in consistency between matrix G and A Γ were evaluated by regression analysis and through the comparison of the overall mean and mean diagonal values of both matrices. The approach was tested on genotype and pedigree information of European and North American Brown Swiss animals (85,249). Analyses with ADMIXTURE were initially performed on the full set of genotypes (S1). In addition, we used an alternative dataset where we avoided sampling of closely related animals (S2). RESULTS: Results of the regression analyses of standard A on G were - 0.489, 0.780 and 0.647 for intercept, slope and fit of the regression. When analysing S1 data results of the regression for A Γ on G corresponding values were - 0.028, 1.087 and 0.807 for k =7, while there was no clear optimum k . Analyses of S2 gave a clear optimal k =24, with - 0.020, 0.998 and 0.817 as results of the regression. For this k differences in mean and mean diagonal values between both matrices were negligible. CONCLUSIONS: The derivation of hidden stratification information based on genotyped animals and its integration into A improved compatibility of the resulting A Γ and G considerably compared to the initial situation. In dairy breeding populations with large half-sib families as sub-structures it is necessary to balance the data when applying population structure analysis to obtain meaningful results.
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Genética Populacional , Modelos Genéticos , Linhagem , Animais , Genética Populacional/métodos , Bovinos/genética , Cruzamento/métodos , Genótipo , Software , MasculinoRESUMO
BACKGROUND: Claw diseases and mastitis represent the most important health issues in dairy cattle with a frequently mentioned connection to milk production. Although many studies have aimed at investigating this connection in more detail by estimating genetic correlations, they do not provide information about causality. An alternative is to carry out Mendelian randomization (MR) studies using genetic variants to investigate the effect of an exposure on an outcome trait mediated by genetic variants. No study has yet investigated the causal association of milk yield (MY) with health traits in dairy cattle. Hence, we performed a MR analysis of MY and seven health traits using imputed whole-genome sequence data from 34,497 German Holstein cows. We applied a method that uses summary statistics and removes horizontal pleiotropic variants (having an effect on both traits), which improves the power and unbiasedness of MR studies. In addition, genetic correlations between MY and each health trait were estimated to compare them with the estimates of causal effects that we expected. RESULTS: All genetic correlations between MY and each health trait were negative, ranging from - 0.303 (mastitis) to - 0.019 (digital dermatitis), which indicates a reduced health status as MY increases. The only non-significant correlation was between MY and digital dermatitis. In addition, each causal association was negative, ranging from - 0.131 (mastitis) to - 0.034 (laminitis), but the number of significant associations was reduced to five nominal and two experiment-wide significant results. The latter were between MY and mastitis and between MY and digital phlegmon. Horizontal pleiotropic variants were identified for mastitis, digital dermatitis and digital phlegmon. They were located within or nearby variants that were previously reported to have a horizontal pleiotropic effect, e.g., on milk production and somatic cell count. CONCLUSIONS: Our results confirm the known negative genetic connection between health traits and MY in dairy cattle. In addition, they provide new information about causality, which for example points to the negative energy balance mediating the connection between these traits. This knowledge helps to better understand whether the negative genetic correlation is based on pleiotropy, linkage between causal variants for both trait complexes, or indeed on a causal association.
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Dermatite Digital , Mastite , Animais , Bovinos/genética , Feminino , Celulite (Flegmão) , Lactação/genética , Análise da Randomização Mendeliana , LeiteRESUMO
BACKGROUND: Body conformation, including withers height, is a major selection criterion in horse breeding and is associated with other important traits, such as health and performance. However, little is known about the genomic background of equine conformation. Therefore, the aim of this study was to use imputed sequence-level genotypes from up to 4891 German Warmblood horses to identify genomic regions associated with withers height and linear conformation traits. Furthermore, the traits were genetically characterised and putative causal variants for withers height were detected. RESULTS: A genome-wide association study (GWAS) for withers height confirmed the presence of a previously known quantitative trait locus (QTL) on Equus caballus (ECA) chromosome 3 close to the LCORL/NCAPG locus, which explained 16% of the phenotypic variance for withers height. An additional significant association signal was detected on ECA1. Further investigations of the region on ECA3 identified a few promising candidate causal variants for withers height, including a nonsense mutation in the coding sequence of the LCORL gene. The estimated heritability for withers height was 0.53 and ranged from 0 to 0.34 for the conformation traits. GWAS identified significantly associated variants for more than half of the investigated conformation traits, among which 13 showed a peak on ECA3 in the same region as withers height. Genetic parameter estimation revealed high genetic correlations between these traits and withers height for the QTL on ECA3. CONCLUSIONS: The use of imputed sequence-level genotypes from a large study cohort led to the discovery of novel QTL associated with conformation traits in German Warmblood horses. The results indicate the high relevance of the QTL on ECA3 for various conformation traits, including withers height, and contribute to deciphering causal mutations for body size in horses.
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Estudo de Associação Genômica Ampla , Genótipo , Locos de Características Quantitativas , Animais , Cavalos/genética , Estudo de Associação Genômica Ampla/métodos , Polimorfismo de Nucleotídeo Único , Fenótipo , Masculino , FemininoRESUMO
In dairy cattle production, it is important to understand how inbreeding affects production, fertility, and health traits. However, there is still limited use of genomic information to estimate inbreeding, despite advancements in genotyping technologies. To address this gap, we investigated the effect of inbreeding on German Holstein dairy cattle using both pedigree-based and genomic-based inbreeding estimators. We employed one method based on pedigree information (Fped) together with 6 genomic-based methods, including 3 genome-wide complex trait analysis software estimators (Fhat1, Fhat2, Fhat3), VanRaden's first method (FVR1, with observed allele frequencies, and FVR0.5, when allele frequencies are set to 0.5), and one based on runs of homozygosity (Froh). Data from 24,489 cows with both phenotypes and genotypes were used, with a pedigree including 232,780 animals born between 1970 and 2018. We analyzed the effects of inbreeding depression on production, fertility, and health traits separately, using single-trait linear animal models as well as threshold models to account for the binary nature of the health traits. For the health traits, we transformed solutions from the liability scale to a probability scale for easier interpretation. Our results showed that the mean inbreeding coefficients from all estimators ranged from -0.003 to 0.243, with negative values observed for most genomic-based methods. We found out that a 1% increase in inbreeding caused a depression ranging from 25.94 kg (Fhat1) to 40.62 kg (Fhat3), 1.18 kg (Fhat2) to 1.70 kg (Fhat3), 0.90 kg (Fhat2) to 1.45 kg (Froh and Fhat3), 0.19 (Fped) to 0.34 d (Fhat3) for 305-d milk yield, fat, protein, and calving interval, respectively. The health traits showed very slight gradual changes when inbreeding was increased steadily from 0% to 50%, with digital dermatitis showing a rather contrasting trend to that of mastitis, which increased the more an animal was inbred. Overall, our study highlights the importance of considering both pedigree-based and genomic-based inbreeding estimators when assessing the impact on inbreeding, emphasizing that not all inbreeding is harmful.
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Fertilidade , Genótipo , Endogamia , Fenótipo , Animais , Bovinos/genética , Fertilidade/genética , Feminino , Linhagem , Frequência do GeneRESUMO
The Resilient Dairy Genome Project (RDGP) is an international large-scale applied research project that aims to generate genomic tools to breed more resilient dairy cows. In this context, improving feed efficiency and reducing greenhouse gases from dairy is a high priority. The inclusion of traits related to feed efficiency (e.g., dry matter intake [DMI]) or greenhouse gases (e.g., methane emissions [CH4]) relies on available genotypes as well as high quality phenotypes. Currently, 7 countries (i.e., Australia, Canada, Denmark, Germany, Spain, Switzerland, and United States) contribute with genotypes and phenotypes including DMI and CH4. However, combining data are challenging due to differences in recording protocols, measurement technology, genotyping, and animal management across sources. In this study, we provide an overview of how the RDGP partners address these issues to advance international collaboration to generate genomic tools for resilient dairy. Specifically, we describe the current state of the RDGP database, data collection protocols in each country, and the strategies used for managing the shared data. As of February 2022, the database contains 1,289,593 DMI records from 12,687 cows and 17,403 CH4 records from 3,093 cows and continues to grow as countries upload new data over the coming years. No strong genomic differentiation between the populations was identified in this study, which may be beneficial for eventual across-country genomic predictions. Moreover, our results reinforce the need to account for the heterogeneity in the DMI and CH4 phenotypes in genomic analysis.
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Gases de Efeito Estufa , Feminino , Animais , Bovinos , Genômica , Genótipo , Austrália , MetanoRESUMO
Up to now, little has been known about backfat thickness (BFT) in dairy cattle. The objective of this study was to investigate the lactation curve and genetic parameters for BFT as well as its relationship with body condition score (BCS) and milk yield (MKG). For this purpose, a dataset was analysed including phenotypic observations of 1929 German Holstein cows for BFT, BCS and MKG recorded on a single research dairy farm between September 2005 and December 2022. Additionally, pedigree and genomic information was available. Lactation curves were predicted and genetic parameters were estimated for all traits in first to third lactation using univariate random regression models. For BCS, lactation curves had nadirs at 94 DIM, 101 DIM and 107 DIM in first, second and third lactation. By contrast, trajectories of BFT showed lowest values later in lactation at 129 DIM, 117 DIM and 120 DIM in lactation numbers 1 to 3, respectively. Although lactation curves of BCS and BFT had similar shapes, the traits showed distinct sequence of curves for lactation number 2 and 3. Cows in third lactation had highest BCS, whereas highest BFT values were found for second parity animals. Average heritabilities were 0.315 ± 0.052, 0.297 ± 0.048 and 0.332 ± 0.061 for BCS in lactation number 1 to 3, respectively. Compared to that, BFT had considerably higher heritability in all lactation numbers with estimates ranging between 0.357 ± 0.028 and 0.424 ± 0.034. Pearson correlation coefficients between estimated breeding values for the 3 traits were negative between MKG with both BCS (r = -0.245 to -0.322) and BFT (r = -0.163 to -0.301). Correlation between traits BCS and BFT was positive and consistently high (r = 0.719 to 0.738). Overall, the results of this study suggest that BFT and BCS show genetic differences in dairy cattle, which might be due to differences in depletion and accumulation of body reserves measured by BFT and BCS. Therefore, routine recording of BFT on practical dairy farms could provide valuable information beyond BCS measurements and might be useful, for example, to better assess the nutritional status of cows.
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Lactação , Animais , Bovinos/genética , Bovinos/fisiologia , Feminino , Lactação/genética , Fenótipo , Composição Corporal/genética , Cruzamento , Tecido Adiposo , Leite/metabolismoRESUMO
This study sheds light on the genetic complexity and interplay of production, body size, and metabolic health in dairy cattle. Phenotypes for body size-related traits from conformation classification (130,166 animals) and production (101,562 animals) of primiparous German Holstein cows were available. Additionally, 21,992, 16,641, and 7,096 animals were from herds with recordings of the metabolic diseases ketosis, displaced abomasum, and milk fever in first, second, and third lactation. Moreover, all animals were genotyped. Heritabilities of traits and genetic correlations between all traits were estimated and GWAS were performed. Heritability was between 0.240 and 0.333 for production and between 0.149 and 0.368 for body size traits. Metabolic diseases were lowly heritable, with estimates ranging from 0.011 to 0.029 in primiparous cows, from 0.008 to 0.031 in second lactation, and from 0.037 to 0.052 in third lactation. Production was found to have negative genetic correlations with body condition score (BCS; -0.279 to -0.343) and udder depth (-0.348 to -0.419). Positive correlations were observed for production and body depth (0.138-0.228), dairy character (DCH) (0.334-0.422), and stature (STAT) (0.084-0.158). In first parity cows, metabolic disease traits were unfavorably correlated with production, with genetic correlations varying from 0.111 to 0.224, implying that higher yielding cows have more metabolic problems. Genetic correlations of disease traits in second and third lactation with production in primiparous cows were low to moderate and in most cases unfavorable. While BCS was negatively correlated with metabolic diseases (-0.255 to -0.470), positive correlations were found between disease traits and DCH (0.269-0.469) as well as STAT (0.172-0.242). Thus, the results indicate that larger and sharper animals with low BCS are more susceptible to metabolic disorders. Genome-wide association studies revealed several significantly associated SNPs for production and conformation traits, confirming previous findings from literature. Moreover, for production and conformation traits, shared significant signals on Bos taurus autosome (BTA) 5 (88.36 Mb) and BTA 6 (86.40 to 87.27 Mb) were found, implying pleiotropy. Additionally, significant SNPs were observed for metabolic diseases on BTA 3, 10, 14, 17, and 26 in first lactation and on BTA 2, 6, 8, 17, and 23 in third lactation. Overall, this study provides important insights into the genetic basis and interrelations of relevant traits in today's Holstein cattle breeding programs, and findings may help to improve selection decisions.
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Doenças dos Bovinos , Cetose , Animais , Bovinos , Feminino , Gravidez , Tamanho Corporal/genética , Doenças dos Bovinos/genética , Doenças dos Bovinos/metabolismo , Estudo de Associação Genômica Ampla/veterinária , Cetose/veterinária , Lactação/genética , Leite/metabolismo , FenótipoRESUMO
Claw diseases and mastitis represent the most important disease traits in dairy cattle with increasing incidences and a frequently mentioned connection to milk yield. Yet, many studies aimed to detect the genetic background of both trait complexes via fine-mapping of quantitative trait loci. However, little is known about genomic regions that simultaneously affect milk production and disease traits. For this purpose, several tools to detect local genetic correlations have been developed. In this study, we attempted a detailed analysis of milk production and disease traits as well as their interrelationship using a sample of 34,497 50K genotyped German Holstein cows with milk production and claw and udder disease traits records. We performed a pedigree-based quantitative genetic analysis to estimate heritabilities and genetic correlations. Additionally, we generated GWAS summary statistics, paying special attention to genomic inflation, and used these data to identify shared genomic regions, which affect various trait combinations. The heritability on the liability scale of the disease traits was low, between 0.02 for laminitis and 0.19 for interdigital hyperplasia. The heritabilities for milk production traits were higher (between 0.27 for milk energy yield and 0.48 for fat-protein ratio). Global genetic correlations indicate the shared genetic effect between milk production and disease traits on a whole genome level. Most of these estimates were not significantly different from zero, only mastitis showed a positive one to milk (0.18) and milk energy yield (0.13), as well as a negative one to fat-protein ratio (-0.07). The genomic analysis revealed significant SNPs for milk production traits that were enriched on Bos taurus autosome 5, 6, and 14. For digital dermatitis, we found significant hits, predominantly on Bos taurus autosome 5, 10, 22, and 23, whereas we did not find significantly trait-associated SNPs for the other disease traits. Our results confirm the known genetic background of disease and milk production traits. We further detected 13 regions that harbor strong concordant effects on a trait combination of milk production and disease traits. This detailed investigation of genetic correlations reveals additional knowledge about the localization of regions with shared genetic effects on these trait complexes, which in turn enables a better understanding of the underlying biological pathways and putatively the utilization for a more precise design of breeding schemes.
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Doenças dos Bovinos , Mastite , Feminino , Bovinos/genética , Animais , Leite/metabolismo , Lactação/genética , Glândulas Mamárias Animais , Fenótipo , Locos de Características Quantitativas , Genômica , Mastite/genética , Mastite/veterinária , Doenças dos Bovinos/epidemiologiaRESUMO
Although the quantitative trait locus (QTL) on chromosome 18 (BTA18) associated with paternal calving ease and stillbirth in Holstein Friesian cattle and its cross has been known for over 20 years, to our knowledge, the exact causal genetic sequence has yet escaped identification. The aim of this study was to re-examine the region of the published QTL on BTA18 and to investigate the possible reasons behind this elusiveness. For this purpose, we carried out a combined linkage disequilibrium and linkage analysis using genotyping data of 2,697 German Holstein Friesian (HF) animals and subsequent whole-genome sequencing (WGS) data analyses and genome assembly of HF samples. We confirmed the known QTL in the 95% confidence interval of 1.089 Mbp between 58.34 and 59.43 Mbp on BTA18. Additionally, these 4 SNPs in the near-perfect linkage disequilibrium with the QTL haplotype were identified: rs381577268 (on 57,816,137 bp, C/T), rs381878735 (on 59,574,329 bp, A/T), rs464221818 (on 59,329,176 bp, C/T), and rs472502785 (on 59,345,689 bp, T/C). Search for the causal mutation using short and long-read sequences, and methylation data of the BTA18 QTL region did not reveal any candidates though. The assembly showed problems in the region, as well as an abundance of segmental duplications within and around the region. Taking the QTL of BTA18 in Holstein cattle as an example, the data presented in this study comprehensively characterize the genomic features that could also be relevant for other such elusive QTL in various other cattle breeds and livestock species as well.
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Cromossomos , Locos de Características Quantitativas , Bovinos , Animais , Fenótipo , Desequilíbrio de Ligação , Genômica , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Genomic analyses commonly explore the additive genetic variance of traits. The non-additive variance, however, is usually small but often significant in dairy cattle. This study aimed at dissecting the genetic variance of eight health traits that recently entered the total merit index in Germany and the somatic cell score (SCS), as well as four milk production traits by analysing additive and dominance variance components. The heritabilities were low for all health traits (between 0.033 for mastitis and 0.099 for SCS), and moderate for the milk production traits (between 0.261 for milk energy yield and 0.351 for milk yield). For all traits, the contribution of dominance variance to the phenotypic variance was low, varying between 0.018 for ovarian cysts and 0.078 for milk yield. Inbreeding depression, inferred from the SNP-based observed homozygosity, was significant only for the milk production traits. The contribution of dominance variance to the genetic variance was larger for the health traits, ranging from 0.233 for ovarian cysts to 0.551 for mastitis, encouraging further studies that aim at discovering QTLs based on their additive and dominance effects.
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Doenças dos Bovinos , Cistos Ovarianos , Feminino , Bovinos/genética , Animais , Leite , Lactação/genética , Fenótipo , Genômica , Locos de Características Quantitativas , Análise de Variância , Cistos Ovarianos/genética , Cistos Ovarianos/veterinária , Doenças dos Bovinos/genéticaRESUMO
BACKGROUND: Structural variants and tandem repeats are relevant sources of genomic variation that are not routinely analyzed in genome wide association studies mainly due to challenging identification and genotyping. Here, we profiled these variants via state-of-the-art strategies in the founder animals of four F2 pig crosses using whole-genome sequence data (20x coverage). The variants were compared at a founder level with the commonly screened SNPs and small indels. At the F2 level, we carried out an association study using imputed structural variants and tandem repeats with four growth and carcass traits followed by a comparison with a previously conducted SNPs and small indels based association study. RESULTS: A total of 13,201 high confidence structural variants and 103,730 polymorphic tandem repeats (with a repeat length of 2-20 bp) were profiled in the founders. We observed a moderate to high (r from 0.48 to 0.57) level of co-localization between SNPs or small indels and structural variants or tandem repeats. In the association step 56.56% of the significant variants were not in high LD with significantly associated SNPs and small indels identified for the same traits in the earlier study and thus presumably not tagged in case of a standard association study. For the four growth and carcass traits investigated, many of the already proposed candidate genes in our previous studies were confirmed and additional ones were identified. Interestingly, a common pattern on how structural variants or tandem repeats regulate the phenotypic traits emerged. Many of the significant variants were embedded or nearby long non-coding RNAs drawing attention to their functional importance. Through which specific mechanisms the identified long non-coding RNAs and their associated structural variants or tandem repeats contribute to quantitative trait variation will need further investigation. CONCLUSIONS: The current study provides insights into the characteristics of structural variants and tandem repeats and their role in association studies. A systematic incorporation of these variants into genome wide association studies is advised. While not of immediate interest for genomic prediction purposes, this will be particularly beneficial for elucidating biological mechanisms driving the complex trait variation.
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Estudo de Associação Genômica Ampla , Locos de Características Quantitativas , Animais , Fenótipo , Polimorfismo de Nucleotídeo Único , Suínos/genética , Sequências de Repetição em Tandem/genéticaRESUMO
Since domestication, a wide variety of phenotypes including coat color variation has developed in livestock. This variation is mostly based on selective breeding. During the beginning of selective breeding, potential negative consequences did not become immediately evident due to low frequencies of homozygous animals and have been occasionally neglected. However, numerous studies of coat color genetics have been carried out over more than a century and, meanwhile, pleiotropic effects for several coat color genes, including disorders of even lethal impact, were described. Similar coat color phenotypes can often be found across species, caused either by conserved genes or by different genes. Even in the same species, more than one gene could cause the same or similar coat color phenotype. The roan coat color in livestock species is characterized by a mixture of white and colored hair in cattle, pig, sheep, goat, alpaca, and horse. So far, the genetic background of this phenotype is not fully understood, but KIT and its ligand KITLG (MGF) are major candidate genes in livestock species. For some of these species, pleiotropic effects such as subfertility in homozygous roan cattle or homozygous embryonic lethality in certain horse breeds have been described. This review aims to point out the similarities and differences of the roan phenotype across the following livestock species: cattle, pig, sheep, goat, alpaca, and horse; and provides the current state of knowledge on genetic background and pleiotropic effects.
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Camelídeos Americanos , Gado , Animais , Bovinos/genética , Cor , Cabras/genética , Cor de Cabelo/genética , Cavalos/genética , Gado/genética , Fenótipo , Ovinos , Fator de Células-Tronco/genética , SuínosRESUMO
In Northern European countries, a great variety of Red cattle populations exists which can be broadly categorized in two groups: specialized dairy and dual-purpose breeds. Collaboration between these breeds (i.e. the exchange of sires across breeds) can be beneficial but is limited so far. The aim of this study was to demonstrate and evaluate consequences of collaboration between Red breeds using stochastic simulations. Two breeding lines (dairy type and dual purpose) were simulated. As a special aspect of this study, differences in genetic levels of breeding traits (milk production, beef production, mastitis resistance, fertility, feed efficiency) have been taken into account. Various scenarios were investigated where across-breed selection was either restricted or allowed and with different correlations between breeding goals in the two lines. The results of this study were influenced by the different genetic levels in breeding traits only in the first years of simulation. In the long run, the breed differences did not affect the degree of collaboration between lines. When the correlation between breeding goals was close to unity, the selection of external bulls was highly beneficial in terms of genetic gain and total monetary gain. Additionally, the lowest rate of inbreeding was found in that case. With decreasing correlations between environments, degree of cooperation between lines rapidly terminated and lines operated individually. In last years of simulation, cooperation was only found when the correlation between breeding goals was close to unity. From a long-term perspective, the exchange of breeding sires across lines also caused negative effects. In the dual-purpose line, deterioration of genetic gain in mastitis resistance and fertility was observed. Additionally, breeding lines genetically converged, which decreased genetic diversity. Collectively, short-term benefits and long-term negative effects have to be reconciled if collaboration between Red breeds in Northern Europe is to be pursued.
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Doenças dos Bovinos , Mastite , Animais , Bovinos/genética , Feminino , Endogamia , Masculino , Mastite/veterinária , FenótipoRESUMO
BACKGROUND: Local cattle breeds need special attention, as they are valuable reservoirs of genetic diversity. Appropriate breeding decisions and adequate genomic management of numerically smaller populations are required for their conservation. At this point, the analysis of dense genome-wide marker arrays provides encompassing insights into the genomic constitution of livestock populations. We have analyzed the genetic characterization of ten cattle breeds originating from Germany, The Netherlands and Denmark belonging to the group of red dairy breeds in Northern Europe. The results are intended to provide initial evidence on whether joint genomic breeding strategies of these populations will be successful. RESULTS: Traditional Danish Red and Groningen White-Headed were the most genetically differentiated breeds and their populations showed the highest levels of inbreeding. In contrast, close genetic relationships and shared ancestry were observed for the populations of German Red and White Dual-Purpose, Dutch Meuse-Rhine-Yssel, and Dutch Deep Red breeds, reflecting their common histories. A considerable amount of gene flow from Red Holstein to German Angler and to German Red and White Dual-Purpose was revealed, which is consistent with frequent crossbreeding to improve productivity of these local breeds. In Red Holstein, marked genomic signatures of selection were reported on chromosome 18, suggesting directed selection for important breeding goal traits. Furthermore, tests for signatures of selection between Red Holstein, Red and White Dual-Purpose, and Meuse-Rhine-Yssel uncovered signals for all investigated pairs of populations. The corresponding genomic regions, which were putatively under different selection pressures, harboured various genes which are associated with traits such as milk and beef production, mastitis and female fertility. CONCLUSIONS: This study provides comprehensive knowledge on the genetic constitution and genomic connectedness of divergent red cattle populations in Northern Europe. The results will help to design and optimize breeding strategies. A joint genomic evaluation including some of the breeds studied here seems feasible.
Assuntos
Bovinos/genética , Patrimônio Genético , Polimorfismo Genético , Seleção Artificial , Animais , Bovinos/fisiologia , Linhagem , Locos de Características Quantitativas , Característica Quantitativa HerdávelRESUMO
BACKGROUND: Breeding genetically hornless, i.e. polled, cattle provides an animal welfare-friendly and non-invasive alternative to the dehorning of calves. However, the molecular regulation of the development of horns in cattle is still poorly understood. Studying genetic characters such as polledness and scurs, can provide valuable insights into this process. Scurs are hornlike formations that occur occasionally in a wide variety of sizes and forms as an unexpected phenotype when breeding polled cattle. METHODS: We present a unique dataset of 885 Holstein-Friesian cattle with polled parentage. The horn phenotype was carefully examined, and the phenotypic heterogeneity of the trait is described. Using a direct gene test for polledness, the polled genotype of the animals was determined. Subsequently, the existence of a putative scurs locus was investigated using high-density genotype data of a selected subset of 232 animals and two mapping approaches: mixed linear model-based association analyses and combined linkage disequilibrium and linkage analysis. RESULTS: The results of an exploratory data analysis indicated that the expression of scurs depends on age at phenotyping, sex and polled genotype. Scurs were more prevalent in males than in females. Moreover, homozygous polled animals did not express any pronounced scurs and we found that the Friesian polled allele suppresses the development of scurs more efficiently than the Celtic polled allele. Combined linkage and linkage disequilibrium mapping revealed four genome-wide significant loci that affect the development of scurs, one on BTA5 and three on BTA12. Moreover, suggestive associations were detected on BTA16, 18 and 23. The mixed linear model-based association analysis supports the results of the combined linkage and linkage disequilibrium analysis. None of the mapping approaches provided convincing evidence for a monogenic inheritance of scurs. CONCLUSIONS: Our results contradict the initial and still broadly accepted model for the inheritance of horns and scurs. We hypothesise an oligogenetic model to explain the development of scurs and polledness.
Assuntos
Bovinos/genética , Locos de Características Quantitativas , Alelos , Animais , Cruzamento , Bovinos/crescimento & desenvolvimento , Bovinos/fisiologia , Feminino , Genoma , Genótipo , Heterozigoto , Cornos/crescimento & desenvolvimento , Desequilíbrio de Ligação , Masculino , Herança Multifatorial , FenótipoRESUMO
KEY MESSAGE: Covering a subset of individuals with a quantitative predictor, while imputing records for all others using pedigree or genomic data, could improve the precision of predictions while controlling for costs. Predicting genetic values with high accuracy is pivotal for effective candidate selection in animal and plant breeding. Novel 'omics'-based predictors have been shown to improve upon established genome-based predictions of important complex traits but require laborious and expensive assays. As a consequence, there are various datasets with full genetic marker coverage of all studied individuals but incomplete coverage with other 'omics' data. In animal breeding, single-step prediction was introduced to efficiently combine pedigree information, collected on a large number of animals, with genomic information, collected on a smaller subset of animals, for breeding value estimation without bias. Using two maize datasets of inbred lines and hybrids, we show that the single-step framework facilitates imputing transcriptomic data, boosting forecasts when their predictive ability exceeds that of pedigree or genomic data. Our results suggest that covering only a subset of inbred lines with 'omics' predictors and imputing all others using pedigree or genomic data could enable breeders to improve trait predictions while keeping costs under control. Employing 'omics' predictors could particularly improve candidate selection in hybrid breeding because the success of forecasts is a strongly convex function of predictive ability.
Assuntos
Genômica/métodos , Zea mays/genética , Genótipo , Hibridização Genética , Endogamia , Locos de Características Quantitativas/genéticaRESUMO
During last decades, native uniqueness decreased in local livestock breeds due to the introgression of high-yielding breeds. Recovery of native uniqueness became important because of conservation aspects regarding native genetic diversity and native traits. Thereby the expectation exists, that the relation between native uniqueness and genetic gain is contradictory. The aim of this study was to explore the influence of native uniqueness on performance traits and the total merit index in a local red cattle breed from Northern Germany. Data contained a pedigree file of 178,255 Red Dual-Purpose cattle, 809 target genotypes and 3,581 reference genotypes from introgressed breeds. Native genetic contributions were tested for correlation with performance traits of milk yield, longevity, foundation, somatic cells, fertility and maternal calving and the total merit index. The study revealed that native uniqueness is favourably related to longevity (0.16), foundation (0.23), and somatic cells (0.08), and the total merit index (0.10). Selection on native uniqueness could probably lead to an increased longevity, udder health and genetic gain of the Red Dual-Purpose cattle. Moreover, it was shown that the Red Dual-Purpose cattle was not upgraded through introgression of high-yielding breeds.
Assuntos
Cruzamento , Bovinos/genética , Animais , Feminino , Genótipo , Alemanha , Masculino , LinhagemRESUMO
BACKGROUND: To date, genome-scale analyses in the domestic horse have been limited by suboptimal single nucleotide polymorphism (SNP) density and uneven genomic coverage of the current SNP genotyping arrays. The recent availability of whole genome sequences has created the opportunity to develop a next generation, high-density equine SNP array. RESULTS: Using whole genome sequence from 153 individuals representing 24 distinct breeds collated by the equine genomics community, we cataloged over 23 million de novo discovered genetic variants. Leveraging genotype data from individuals with both whole genome sequence, and genotypes from lower-density, legacy SNP arrays, a subset of ~5 million high-quality, high-density array candidate SNPs were selected based on breed representation and uniform spacing across the genome. Considering probe design recommendations from a commercial vendor (Affymetrix, now Thermo Fisher Scientific) a set of ~2 million SNPs were selected for a next-generation high-density SNP chip (MNEc2M). Genotype data were generated using the MNEc2M array from a cohort of 332 horses from 20 breeds and a lower-density array, consisting of ~670 thousand SNPs (MNEc670k), was designed for genotype imputation. CONCLUSIONS: Here, we document the steps taken to design both the MNEc2M and MNEc670k arrays, report genomic and technical properties of these genotyping platforms, and demonstrate the imputation capabilities of these tools for the domestic horse.