RESUMEN
Domestic sheep and their wild relatives harbor substantial genetic variants that can form the backbone of molecular breeding, but their genome landscapes remain understudied. Here, we present a comprehensive genome resource for wild ovine species, landraces and improved breeds of domestic sheep, comprising high-coverage (â¼16.10×) whole genomes of 810 samples from 7 wild species and 158 diverse domestic populations. We detected, in total, â¼121.2 million single nucleotide polymorphisms, â¼61 million of which are novel. Some display significant (P < 0.001) differences in frequency between wild and domestic species, or are private to continent-wide or individual sheep populations. Retained or introgressed wild gene variants in domestic populations have contributed to local adaptation, such as the variation in the HBB associated with plateau adaptation. We identified novel and previously reported targets of selection on morphological and agronomic traits such as stature, horn, tail configuration, and wool fineness. We explored the genetic basis of wool fineness and unveiled a novel mutation (chr25: T7,068,586C) in the 3'-UTR of IRF2BP2 as plausible causal variant for fleece fiber diameter. We reconstructed prehistorical migrations from the Near Eastern domestication center to South-and-Southeast Asia and found two main waves of migrations across the Eurasian Steppe and the Iranian Plateau in the Early and Late Bronze Ages. Our findings refine our understanding of genome variation as shaped by continental migrations, introgression, adaptation, and selection of sheep.
Asunto(s)
Genoma , Oveja Doméstica , Animales , Asia , Europa (Continente) , Variación Genética , Irán , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Ovinos/genética , Oveja Doméstica/genéticaRESUMEN
How animals, particularly livestock, adapt to various climates and environments over short evolutionary time is of fundamental biological interest. Further, understanding the genetic mechanisms of adaptation in indigenous livestock populations is important for designing appropriate breeding programs to cope with the impacts of changing climate. Here, we conducted a comprehensive genomic analysis of diversity, interspecies introgression, and climate-mediated selective signatures in a global sample of sheep and their wild relatives. By examining 600K and 50K genome-wide single nucleotide polymorphism data from 3,447 samples representing 111 domestic sheep populations and 403 samples from all their seven wild relatives (argali, Asiatic mouflon, European mouflon, urial, snow sheep, bighorn, and thinhorn sheep), coupled with 88 whole-genome sequences, we detected clear signals of common introgression from wild relatives into sympatric domestic populations, thereby increasing their genomic diversities. The introgressions provided beneficial genetic variants in native populations, which were significantly associated with local climatic adaptation. We observed common introgression signals of alleles in olfactory-related genes (e.g., ADCY3 and TRPV1) and the PADI gene family including in particular PADI2, which is associated with antibacterial innate immunity. Further analyses of whole-genome sequences showed that the introgressed alleles in a specific region of PADI2 (chr2: 248,302,667-248,306,614) correlate with resistance to pneumonia. We conclude that wild introgression enhanced climatic adaptation and resistance to pneumonia in sheep. This has enabled them to adapt to varying climatic and environmental conditions after domestication.
Asunto(s)
Adaptación Biológica/genética , Resistencia a la Enfermedad/genética , Introgresión Genética , Ovinos/genética , Animales , Evolución Biológica , Cambio Climático , Variación Genética , Filogeografía , Neumonía/inmunología , Ovinos/inmunologíaRESUMEN
Compost bedded pack barns (compost) as a new free walk housing system favorably influence udder health due to improved animal welfare and lying comfort. On the other hand, unfavorable effects on udder health are possible, due to the open bedded pack and the associated larger bacterial content in moisture. For in-depth farming system comparisons, the present study aimed to evaluate the specific cell fractions and mastitis pathogens in milk from cows kept in compost and in conventional cubical barns (cubicle). For milk sample collection we used a repeated measurement data structure of 2,198 udder quarters from 537 Holstein cows kept in six herds (3 in compost and 3 in cubicle). Differential cell counting was conducted including lymphocytes, macrophages and polymorphonuclear leukocytes (PMN). Specific mastitis pathogens comprised major and minor pathogens. Mixed models were applied to infer environmental and cow associated effects on cell fractions and on prevalences for pathogen infections, with specific focus on system × lactation stage, system × milk yield and system × somatic cell count effects. The interaction between system and lactation stage showed significant differences (P < 0.01) between the systems. A significantly smaller number of bacteriologically positive quarters and lower prevalences for minor pathogens were detected in compost compared to cubicle. Least squares means for pathogen prevalences indicated a quite constant proportion of bacteriologically negative udder quarters across milk yield levels in compost, but a slight increase with increasing milk yield in cubicle. Cell fraction responses in both systems differed in relation to the overall bacteriological infection status and farming system particularities. In conclusion, different cell fractions and specific mastitis pathogens should be considered as an indicator for udder health in different production systems, taking into account cow associated factors (lactation stage, milk yield).
Asunto(s)
Compostaje , Vivienda para Animales/clasificación , Mastitis Bovina , Leche , Animales , Bovinos , Recuento de Células/veterinaria , Industria Lechera , Femenino , Lactancia , Glándulas Mamarias Animales , Leche/citología , Leche/microbiologíaRESUMEN
The indigenous cattle population of Benin is a diverse mix of taurine and hybrid breeds shaped by diverse ecological and climatic conditions with eight agro-ecological zones (AEZ). Presumably, the taurine breeds face current endangerment due to ongoing indicine introgression following climate change and transboundary transhumance. The aim of the study was to investigate the genetic diversity and population structure of the indigenous breeds Lagune, Somba, Pabli and Borgou considering spatial agro-ecological and socio-economic factors (transhumance) based on 50k SNP and microsatellite data. Among the four sampled breeds, six genetic clusters were identified using model-free (discriminant analysis of principal components) and model-based (TESS and ADMIXTURE) methods separating taurine from hybrid breeds. Results based on an extension with publicly available historic SNP data sets from taurine and indicine West African cattle and additional outgroups provided additional insight into changes of genetic structure in the sampled breeds over time. Both taurine breeds, Somba and Lagune, showed a stable foundation but also spatially limited partial indicine introgression associated with transhumance leading to high genetic diversity. In addition, we found evidence for spatial diversity and changes in genetic structure over time in the Borgou breed in comparison of our samples with the historic samples which could be explained by potential continuous indicine introgression into the Borgou breed in two sample regions. Results for the Pabli breed do not conclusively point to full absorbance by the Borgou in comparison with all available Borgou samples. Further research is needed in this regard.
Asunto(s)
Cruzamiento , Variación Genética/genética , Genética de Población , Agricultura , Animales , Benin , Bovinos , Análisis Discriminante , EcologíaRESUMEN
The study investigated the effects of four single-nucleotide polymorphisms (SNPs) in the activated leukocyte cell adhesion molecule (ALCAM) gene on liver fluke (Fasciola hepatica) infections (FH-INF), gastrointestinal nematode infections (GIN-INF) and disease indicator traits [e.g. somatic cell score (SCS), fat-to-protein ratio (FPR)] in German dual-purpose cattle (DSN). A genome-wide association study inferred the chip SNP ALCAMc.73+32791A>G as a candidate for F. hepatica resistance in DSN. Because of the crucial function of ALCAM in immune responses, SNPs in the gene might influence further resistance and performance traits. Causal mutations were identified in exon 9 (ALCAMc.1017T>C) and intron 9 (ALCAMc.1104+10T>A, ALCAMc.1104+85T>C) in a selective subset of 94 DSN cows. We applied logistic regression analyses for the association between SNP genotypes with residuals for endoparasite traits (rINF-FH, rGIN-INF) and estimated breeding values (EBVs) for test-day traits. The probability of the heterozygous genotype was estimated in dependency of the target trait. Allele substitution effects for rFH-INF were significant for all four loci. The T allele of the SNPs ALCAMc.1017T>C and ALCAMc.1104+85T>C was the favourable allele when improving resistance against FH-INF. Significant allele substitution for rGIN-INF was only found for the chip SNP ALCAMc.73+32791A>G. We identified significant associations between the SNPs with EBVs for milk fat%, protein% and FPR. Dominance effects for the EBVs of test-day traits ranged from 0.00 to 0.47 SD and were in the direction of improved resistance for rFH-INF. We estimated favourable dominance effects from same genotypes for rFH-INF and FPR, but dominance effects were antagonistic between rFH-INF and SCS.
Asunto(s)
Molécula de Adhesión Celular del Leucocito Activado/genética , Enfermedades de los Bovinos/genética , Bovinos/genética , Fasciola hepatica/fisiología , Fascioliasis/veterinaria , Polimorfismo de Nucleótido Simple , Molécula de Adhesión Celular del Leucocito Activado/inmunología , Alelos , Animales , Bovinos/inmunología , Enfermedades de los Bovinos/inmunología , Enfermedades de los Bovinos/parasitología , Resistencia a la Enfermedad , Exones , Fascioliasis/genética , Fascioliasis/inmunología , Fascioliasis/parasitología , Genes Dominantes , Estudio de Asociación del Genoma Completo , Modelos Logísticos , Mutación PuntualRESUMEN
Milk samples of 193 camels (Camelus dromedarius) from different regions of Sudan were screened for casein variability by isoelectric focusing. Kappa-casein and beta-casein were monomorphic, whereas three protein patterns named αs1-casein A, C, and D were identified. The major allele A revealed frequencies of 0.79 (Lahaoi), 0.75 (Shanbali), 0.90 (Arabi Khali), and 0.88 (Arabi Gharbawi) in the different ecotypes. CSN1S1*C shows a single G > T nucleotide substitution in the exon 5, leading to a non-synonymous amino acid exchange (p.Glu30 > Asp30) in comparison to CSN1S1*A and D. At cDNA level, no further single nucleotide polymorphisms could be identified in CSN1S1* A, C, and D, whereas the variants CSN1S1*A and CSN1S1*C are characterized by missing of exon 18 compared to the already described CSN1S1*B, as consequence of DNA insertion of 11 bp at intron 17 which alter the pre-mRNA spliceosome machinery. A polymerase chain-restriction fragment length polymorphism method (PCR-RFLP) was established to type for G > T nucleotide substitution at genomic DNA level. The occurrence and differences of IgE-binding epitopes and bioactive peptides between αs1-casein A, C, and D after digestion were analyzed in silico. The amino acid substitutions and deletion affected the arising peptide pattern and thus modifications between IgE-binding epitopes and bioactive peptides of the variants were found. The allergenic potential of these different peptides will be investigated by microarray immunoassay using sera from milk-sensitized individuals, as it was already demonstrated for bovine αs1-casein variants.
Asunto(s)
Alérgenos/química , Camelus/fisiología , Caseínas/química , Epítopos/genética , Leche/química , Alelos , Alérgenos/genética , Sustitución de Aminoácidos , Animales , Caseínas/metabolismo , Inmunoensayo , Péptidos , Mutación Puntual , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , SudánRESUMEN
The aim of this study was to analyze the genetic structure of the casein cluster in eight selection lines of the Holstein Friesian (HF), German Simmental (GS) and German Black Pied cattle ("Deutsches Schwarzbuntes Niederungsrind", DSN) breeds. A total of 2962 milk samples were typed at α s 1 -casein ( α s 1 -CN), ß -casein ( ß -CN), α s 2 -casein ( α s 2 -CN) and κ -casein ( κ -CN) loci using isoelectric focusing. The number of alleles per locus ranged from one ( α s 2 -CN) to five ( ß -CN), and the average expected heterozygosity and polymorphic information content of all loci were 0.33 and 0.27, respectively. The unrooted dendrogram revealed that the selection lines of the endangered DSN breed were clearly separated from the HF and GS breeds due to their predominance of the ß -CN A1 allele and the comprehensive haplotype BA1A (in the abbreviation of α s 1 - ß - κ -CN). Temporal changes in allele distributions indicated decreasing genetic diversity at the casein loci, explaining the moderate level of genetic differentiation among selection lines (7.1â¯%). The variability of the casein should be exploited in future using breeding programs to select genetic lines for specific protein production in bovine milk but also to preserve biodiversity.
RESUMEN
The aim of the present study was to detect significant SNP (single-nucleotide polymorphism) effects and to annotate potential candidate genes for novel udder health traits in two different farming systems. We focused on specific mastitis pathogens and differential somatic cell fractions from 2198 udder quarters of 537 genotyped Holstein Friesian cows. The farming systems comprised compost-bedded pack and conventional cubicle barns. We developed a computer algorithm for genome-wide association studies allowing the estimation of main SNP effects plus consideration of SNPs by farming system interactions. With regard to the main effect, 35 significant SNPs were detected on 14 different chromosomes for the cell fractions and the pathogens. Six SNPs were significant for the interaction effect with the farming system for most of the udder health traits. We inferred two possible candidate genes based on significant SNP interactions. HEMK1 plays a role in the development of the immune system, depending on environmental stressors. CHL1 is regulated in relation to stress level and influences immune system mechanisms. The significant interactions indicate that gene activity can fluctuate depending on environmental stressors. Phenotypically, the prevalence of mastitis indicators differed between systems, with a notably lower prevalence of minor bacterial indicators in compost systems.
RESUMEN
Compost-bedded pack barns (CBP) are of increasing interest in dairy farming due to their positive effect on animal welfare. The temperature and the moisture content of the bedding material characterising the composting process can promote the growth of thermophilic aerobic sporeformers (TAS). Therefore, the aim of this study was to determine CBP bedding material characteristics, such as moisture content and temperature, and to determine TAS species. The dilution, the heat inactivation of all non-TAS species and the incubation of 13 bedding samples from four CBP groups resulted in a mean TAS amount over all samples of 4.11 log10 cfu/g bedding material. Based on the subsequent sequencing of parts of the 16S rRNA-gene of 99 TAS colonies, the TAS species Aneurinibacillus thermoaerophilus, Bacillus licheniformis, Geobacillus thermodenitrificans, Laceyella sacchari, Thermoactinomyces vulgaris and Ureibacillus thermosphaericus were identified. The moisture content of the bedding material, the relative humidity above the bedding material and the sampling season significantly affected the amount of TAS. The moisture content or relative humidity above the bedding material significantly influenced the concentration of Ureibacillus thermophaericus or Laceyella sacchari. Consequently, an optimal CBP management including a dry lying surface and an optimal composting process will contribute to a moderate microbial, especially TAS amount, and TAS species distribution.
RESUMEN
The objectives of this study were to investigate milk casein polymorphisms in dams and to determine the impacts of maternal casein genotypes on growth traits of their sucking calves. Milk samples from 433 dams of the breeds German Angus (GA) and German Simmental (GS) were typed at the milk protein loci αâs1-casein (αs1-CN), ß-casein (ß-CN), αâs2-casein (αs2-CN), and κ-casein (κ-CN) via isoelectric focusing. Associations between casein genotypes in maternal milk with growth traits of their 1,872 calves were analyzed until the age of weaning using linear mixed models, considering either genotypes of individual casein loci (model 1) or composite αâs1-ß-αâs2-κ-CN genotypes within the casein cluster (model 2). Besides environmental effects such as sex, age of the dam, and calving year-season, genetic effects (breed group and maternal and paternal effects) were considered in statistical models. The composite casein genotype BBÇA2A2ÇAAÇAB (order of genes on bovine chromosome 6: αâs1-Çß-Çαâs2-Çκ-CN) was associated with greater average daily weight gains (ADG) and heavier age-adjusted weaning weights (WW) of calves (P < 0.05). The effects of composite genotypes on birth weight of calves were similar (P > 0.05; model 2). With regard to individual casein loci, greater ADG and WW were observed for calves from dams with the genotypes κ-CN BB and αâs1-CN BB, respectively (P < 0.05; model 1). Age-adjusted WW was largest for calves from dams carrying the κ-CN genotype BB (215 kg) compared with calves representing the maternal AB and AA genotypes (both 204 kg). Results from the present study suggested selectable casein genotypes due to their nutritional value of milk (value in terms of offspring performances), offering new perspectives for breeding strategies in beef cattle to improve preweaning calf performance.
Asunto(s)
Bovinos/genética , Proteínas de la Leche/genética , Leche/química , Polimorfismo Genético , Animales , Peso al Nacer , Cruzamiento , Caseínas/genética , Bovinos/crecimiento & desarrollo , Femenino , Genotipo , Proteínas de la Leche/metabolismo , Fenotipo , Destete , Aumento de PesoRESUMEN
Understanding the genetic changes underlying phenotypic variation in sheep (Ovis aries) may facilitate our efforts towards further improvement. Here, we report the deep resequencing of 248 sheep including the wild ancestor (O. orientalis), landraces, and improved breeds. We explored the sheep variome and selection signatures. We detected genomic regions harboring genes associated with distinct morphological and agronomic traits, which may be past and potential future targets of domestication, breeding, and selection. Furthermore, we found non-synonymous mutations in a set of plausible candidate genes and significant differences in their allele frequency distributions across breeds. We identified PDGFD as a likely causal gene for fat deposition in the tails of sheep through transcriptome, RT-PCR, qPCR, and Western blot analyses. Our results provide insights into the demographic history of sheep and a valuable genomic resource for future genetic studies and improved genome-assisted breeding of sheep and other domestic animals.
Asunto(s)
Crianza de Animales Domésticos/métodos , Animales Salvajes/genética , Factor de Crecimiento Derivado de Plaquetas/metabolismo , Oveja Doméstica/genética , Alelos , Animales , Cruzamiento , Femenino , Frecuencia de los Genes , Variación Genética , Genética , Genómica , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Desequilibrio de Ligamiento , Mutación , Fenotipo , Polimorfismo de Nucleótido Simple , Selección Genética , Análisis de Secuencia de ADN , Ovinos , Especificidad de la Especie , Secuenciación Completa del GenomaRESUMEN
The domestication and subsequent global dispersal of livestock are crucial events in human history, but the migratory episodes during the history of livestock remain poorly documented [1-3]. Here, we first developed a set of 493 novel ovine SNPs of the male-specific region of Y chromosome (MSY) by genome mapping. We then conducted a comprehensive genomic analysis of Y chromosome, mitochondrial DNA, and whole-genome sequence variations in a large number of 595 rams representing 118 domestic populations across the world. We detected four different paternal lineages of domestic sheep and resolved, at the global level, their paternal origins and differentiation. In Northern European breeds, several of which have retained primitive traits (e.g., a small body size and short or thin tails), and fat-tailed sheep, we found an overrepresentation of MSY lineages y-HC and y-HB, respectively. Using an approximate Bayesian computation approach, we reconstruct the demographic expansions associated with the segregation of primitive and fat-tailed phenotypes. These results together with archaeological evidence and historical data suggested the first expansion of early domestic hair sheep and the later expansion of fat-tailed sheep occurred â¼11,800-9,000 years BP and â¼5,300-1,700 years BP, respectively. These findings provide important insights into the history of migration and pastoralism of sheep across the Old World, which was associated with different breeding goals during the Neolithic agricultural revolution.
Asunto(s)
ADN Mitocondrial/genética , Genoma/genética , Polimorfismo de Nucleótido Simple/genética , Oveja Doméstica/genética , Cromosoma Y/genética , Animales , Cruzamiento , Linaje de la Célula/genética , Mapeo Cromosómico , Variación Genética/genética , Masculino , Mitocondrias/genética , Fenotipo , Filogenia , Ovinos , Oveja Doméstica/clasificación , Secuenciación Completa del GenomaRESUMEN
The experimental power of a granddaughter design to detect quantitative trait loci (QTL) in dairy cattle is often limited by the availability of progeny-tested sires, by the ignoring of already identified QTL in the statistical analysis, and by the application of stringent experimentwise significance levels. This study describes an experiment that addressed these points. A large granddaughter design was set up that included sires from two countries (Germany and France), resulting in almost 2000 sires. The animals were genotyped for markers on nine different chromosomes. The QTL analysis was done for six traits separately using a multimarker regression that included putative QTL on other chromosomes as cofactors in the model. Different variants of the false discovery rate (FDR) were applied. Two of them accounted for the proportion of truly null hypotheses, which were estimated to be 0.28 and 0.3, respectively, and were therefore tailored to the experiment. A total of 25 QTL could be mapped when cofactors were included in the model-7 more than without cofactors. Controlling the FDR at 0.05 revealed 31 QTL for the two FDR methods that accounted for the proportion of truly null hypotheses. The relatively high power of this study can be attributed to the size of the experiment, to the QTL analysis with cofactors, and to the application of an appropriate FDR.
Asunto(s)
Bovinos/genética , Mapeo Cromosómico/métodos , Sitios de Carácter Cuantitativo , Carácter Cuantitativo Heredable , Animales , Simulación por Computador , Industria Lechera , Reacciones Falso Positivas , Femenino , Ligamiento Genético , Marcadores Genéticos , Genotipo , Masculino , Repeticiones de Microsatélite , LinajeRESUMEN
Genetic diversity, introgression and relationships were studied in 521 individuals from 9 African Bos indicus and 3 Bos taurus cattle breeds in Cameroon and Nigeria using genotype information on 28 markers (16 microsatellite, 7 milk protein and 5 blood protein markers). The genotypes of 13 of the 16 microsatellite markers studied on three European (German Angus, German Simmental and German Yellow) and two Indian (Nelore and Ongole) breeds were used to assess the relationships between them and the African breeds. Diversity levels at microsatellite loci were higher in the zebu than in the taurine breeds and were generally similar for protein loci in the breeds in each group. Microsatellite allelic distribution displayed groups of alleles specific to the Indian zebu, African taurine and European taurine. The level of the Indian zebu genetic admixture proportions in the African zebus was higher than the African taurine and European taurine admixture proportions, and ranged from 58.1% to 74.0%. The African taurine breed, Muturu was free of Indian zebu genes while its counter Namchi was highly introgressed (30.2%). Phylogenic reconstruction and principal component analysis indicate close relationships among the zebu breeds in Cameroon and Nigeria and a large genetic divergence between the main cattle groups--African taurine, European taurine and Indian zebu, and a central position for the African zebus. The study presents the first comprehensive information on the hybrid composition of the individual cattle breeds of Cameroon and Nigeria and the genetic relationships existing among them and other breeds outside of Africa. Strong evidence supporting separate domestication events for the Bos species is also provided.
Asunto(s)
Alelos , Biomarcadores/análisis , Bovinos/genética , Variación Genética , Genética de Población , Repeticiones de Microsatélite , África , Animales , Proteínas Sanguíneas/análisis , Cruzamiento , Femenino , Frecuencia de los Genes , Masculino , Proteínas de la Leche/análisisRESUMEN
A joint analysis of five paternal half-sib Holstein families that were part of two different granddaughter designs (ADR- or Inra-design) was carried out for five milk production traits and somatic cell score in order to conduct a QTL confirmation study and to increase the experimental power. Data were exchanged in a coded and standardised form. The combined data set (JOINT-design) consisted of on average 231 sires per grandsire. Genetic maps were calculated for 133 markers distributed over nine chromosomes. QTL analyses were performed separately for each design and each trait. The results revealed QTL for milk production on chromosome 14, for milk yield on chromosome 5, and for fat content on chromosome 19 in both the ADR- and the Inra-design (confirmed within this study). Some QTL could only be mapped in either the ADR- or in the Inra-design (not confirmed within this study). Additional QTL previously undetected in the single designs were mapped in the JOINT-design for fat yield (chromosome 19 and 26), protein yield (chromosome 26), protein content (chromosome 5), and somatic cell score (chromosome 2 and 19) with genomewide significance. This study demonstrated the potential benefits of a combined analysis of data from different granddaughter designs.