Genomic prediction of blood biomarkers of metabolic disorders in Holstein cattle using parametric and nonparametric models.

BACKGROUND: Metabolic disturbances adversely impact productive and reproductive performance of dairy cattle due to changes in endocrine status and immune function, which increase the risk of disease. This may occur in the post-partum phase, but also throughout lactation, with sub-clinical symptoms. Recently, increased attention has been directed towards improved health and resilience in dairy cattle, and genomic selection (GS) could be a helpful tool for selecting animals that are more resilient to metabolic disturbances throughout lactation. Hence, we evaluated the genomic prediction of serum biomarkers levels for metabolic distress in 1353 Holsteins genotyped with the 100K single nucleotide polymorphism (SNP) chip assay. The GS was evaluated using parametric models best linear unbiased prediction (GBLUP), Bayesian B (BayesB), elastic net (ENET), and nonparametric models, gradient boosting machine (GBM) and stacking ensemble (Stack), which combines ENET and GBM approaches. RESULTS: The results show that the Stack approach outperformed other methods with a relative difference (RD), calculated as an increment in prediction accuracy, of approximately 18.0% compared to GBLUP, 12.6% compared to BayesB, 8.7% compared to ENET, and 4.4% compared to GBM. The highest RD in prediction accuracy between other models with respect to GBLUP was observed for haptoglobin (hapto) from 17.7% for BayesB to 41.2% for Stack; for Zn from 9.8% (BayesB) to 29.3% (Stack); for ceruloplasmin (CuCp) from 9.3% (BayesB) to 27.9% (Stack); for ferric reducing antioxidant power (FRAP) from 8.0% (BayesB) to 40.0% (Stack); and for total protein (PROTt) from 5.7% (BayesB) to 22.9% (Stack). Using a subset of top SNPs (1.5k) selected from the GBM approach improved the accuracy for GBLUP from 1.8 to 76.5%. However, for the other models reductions in prediction accuracy of 4.8% for ENET (average of 10 traits), 5.9% for GBM (average of 21 traits), and 6.6% for Stack (average of 16 traits) were observed. CONCLUSIONS: Our results indicate that the Stack approach was more accurate in predicting metabolic disturbances than GBLUP, BayesB, ENET, and GBM and seemed to be competitive for predicting complex phenotypes with various degrees of mode of inheritance, i.e. additive and non-additive effects. Selecting markers based on GBM improved accuracy of GBLUP.

Multiple genomic solutions for local adaptation in two closely related species (sheep and goats) facing the same climatic constraints.

The question of how local adaptation takes place remains a fundamental question in evolutionary biology. The variation of allele frequencies in genes under selection over environmental gradients remains mainly theoretical and its empirical assessment would help understanding how adaptation happens over environmental clines. To bring new insights to this issue we set up a broad framework which aimed to compare the adaptive trajectories over environmental clines in two domesticated mammal species co-distributed in diversified landscapes. We sequenced the genomes of 160 sheep and 161 goats extensively managed along environmental gradients, including temperature, rainfall, seasonality and altitude, to identify genes and biological processes shaping local adaptation. Allele frequencies at putatively adaptive loci were rarely found to vary gradually along environmental gradients, but rather displayed a discontinuous shift at the extremities of environmental clines. Of the 430 candidate adaptive genes identified, only 6 were orthologous between sheep and goats and those responded differently to environmental pressures, suggesting different putative mechanisms involved in local adaptation in these two closely related species. Interestingly, the genomes of the 2 species were impacted differently by the environment, genes related to signatures of selection were most related to altitude, slope and rainfall seasonality for sheep, and summer temperature and spring rainfall for goats. The diversity of candidate adaptive pathways may result from a high number of biological functions involved in the adaptations to multiple eco-climatic gradients, and a differential role of climatic drivers on the two species, despite their co-distribution along the same environmental gradients. This study describes empirical examples of clinal variation in putatively adaptive alleles with different patterns in allele frequency distributions over continuous environmental gradients, thus showing the diversity of genetic responses in adaptive landscapes and opening new horizons for understanding genomics of adaptation in mammalian species and beyond.

Population genomic structures and signatures of selection define the genetic uniqueness of several fancy and meat rabbit breeds.

Following the recent domestication process of the European rabbit (Oryctolagus cuniculus), many different breeds and lines, distinguished primarily by exterior traits such as coat colour, fur structure and body size and shape, have been constituted. In this study, we genotyped, with a high-density single-nucleotide polymorphism panel, a total of 645 rabbits from 10 fancy breeds (Belgian Hare, Champagne d'Argent, Checkered Giant, Coloured Dwarf, Dwarf Lop, Ermine, Giant Grey, Giant White, Rex and Rhinelander) and three meat breeds (Italian White, Italian Spotted and Italian Silver). ADMIXTURE analysis indicated that breeds with similar phenotypic traits (e.g. coat colour and body size) shared common ancestries. Signatures of selection using two haplotype-based approaches (iHS and XP-EHH), combined with the results obtained with other methods previously reported that we applied to the same breeds, we identified a total of 5079 independent genomic regions with some signatures of selection, covering about 1777 Mb of the rabbit genome. These regions consistently encompassed many genes involved in pigmentation processes (ASIP, EDNRA, EDNRB, KIT, KITLG, MITF, OCA2, TYR and TYRP1), coat structure (LIPH) and body size, including two major genes (LCORL and HMGA2) among many others. This study revealed novel genomic regions under signatures of selection and further demonstrated that population structures and signatures of selection, left into the genome of these rabbit breeds, may contribute to understanding the genetic events that led to their constitution and the complex genetic mechanisms determining the broad phenotypic variability present in these untapped rabbit genetic resources.

Genomic diversity and signatures of selection in meat and fancy rabbit breeds based on high-density marker data.

BACKGROUND: Domestication of the rabbit (Oryctolagus cuniculus) has led to a multi-purpose species that includes many breeds and lines with a broad phenotypic diversity, mainly for external traits (e.g. coat colours and patterns, fur structure, and morphometric traits) that are valued by fancy rabbit breeders. As a consequence of this human-driven selection, distinct signatures are expected to be present in the rabbit genome, defined as signatures of selection or selective sweeps. Here, we investigated the genome of three Italian commercial meat rabbit breeds (Italian Silver, Italian Spotted and Italian White) and 12 fancy rabbit breeds (Belgian Hare, Burgundy Fawn, Champagne d'Argent, Checkered Giant, Coloured Dwarf, Dwarf Lop, Ermine, Giant Grey, Giant White, Rex, Rhinelander and Thuringian) by using high-density single nucleotide polymorphism data. Signatures of selection were identified based on the fixation index (FST) statistic with different approaches, including single-breed and group-based methods, the latter comparing breeds that are grouped based on external traits (different coat colours and body sizes) and types (i.e. meat vs. fancy breeds). RESULTS: We identified 309 genomic regions that contained signatures of selection and that included genes that are known to affect coat colour (ASIP, MC1R and TYR), coat structure (LIPH), and body size (LCORL/NCAPG, COL11A1 and HOXD) in rabbits and that characterize the investigated breeds. Their identification proves the suitability of the applied methodologies for capturing recent selection events. Other regions included novel candidate genes that might contribute to the phenotypic variation among the analyzed breeds, including genes for pigmentation-related traits (EDNRA, EDNRB, MITF and OCA2) and body size, with a strong candidate for dwarfism in rabbit (COL2A1). CONCLUSIONS: We report a genome-wide view of genetic loci that underlie the main phenotypic differences in the analyzed rabbit breeds, which can be useful to understand the shift from the domestication process to the development of breeds in O. cuniculus. These results enhance our knowledge about the major genetic loci involved in rabbit external traits and add novel information to understand the complexity of the genetic architecture underlying body size in mammals.

Comparative analysis of genomic inbreeding parameters and runs of homozygosity islands in several fancy and meat rabbit breeds.

Runs of homozygosity (ROH) are defined as long stretches of DNA homozygous at each polymorphic position. The proportion of genome covered by ROH and their length are indicators of the level and origin of inbreeding. In this study, we analysed SNP chip datasets (obtained using the Axiom OrcunSNP Array) of a total of 702 rabbits from 12 fancy breeds and four meat breeds to identify ROH with different approaches and calculate several genomic inbreeding parameters. The highest average number of ROH per animal was detected in Belgian Hare (~150) and the lowest in Italian Silver (~106). The average length of ROH ranged from 4.001 ± 0.556 Mb in Italian White to 6.268 ± 1.355 Mb in Ermine. The same two breeds had the lowest (427.9 ± 86.4 Mb, Italian White) and the highest (921.3 ± 179.8 Mb, Ermine) average values of the sum of all ROH segments. More fancy breeds had a higher level of genomic inbreeding (as defined by ROH) than meat breeds. Several ROH islands contain genes involved in body size, body length, pigmentation processes, carcass traits, growth, and reproduction traits (e.g.: AOX1, GPX5, IFRD1, ITGB8, NELL1, NR3C1, OCA2, TRIB1, TRIB2). Genomic inbreeding parameters can be useful to overcome the lack of information in the management of rabbit genetic resources. ROH provided information to understand, to some extent, the genetic history of rabbit breeds and to identify signatures of selection in the rabbit genome.

Purebreeding with sexed semen and crossbreeding with semen from double-muscled sires to improve beef production from dairy herds: Live and slaughter performances of crossbred calves.

The use of sexed semen to produce purebred replacement heifers allows a large proportion of dairy cows to be mated to beef sires, and quantitative and qualitative improvements to be made to beef production from dairy herds. The major dairy and beef breeds are undergoing rapid genetic improvement as a result of more efficient selection methods, prompting a need to evaluate the meat production of crossbred beef × dairy cattle produced using current genetics. As part of a large project involving 125 commercial dairy farms, we evaluated the combined use of purebreeding with sexed semen and crossbreeding with semen from beef sires, particularly double-muscled breeds. A survey of 1,530 crossbred calves revealed that, whereas purebred dairy calves are destined almost exclusively for veal production, beef × dairy crossbred calves are also destined for beef production after fattening on either the dairy farm of birth or by specialized fatteners. In veal production, compared with Belgian Blue-sired calves (taken as the reference), double-muscled INRA 95-sired calves had a lighter slaughter weight (303 vs. 346 kg), but a greater dressing percent (62.3 vs. 58.4%). Limousin (also known as Limousine)-sired calves had a smaller average daily gain (1.26 vs. 1.34 kg/d), and lighter slaughter (314 vs. 346 kg) and carcass weights (182 vs. 201 kg). Last, Simmental-sired calves had a similar growth rate, but lighter carcass weight (177 vs. 201 kg), smaller dressing percentage (55.3 vs. 58.4%), and smaller muscularity scores (3.25 vs. 3.72). In the case of young bulls and heifers fattened on the dairy farm of birth, Belgian Blue-, Piemontese (also known as Piedmontese)-, and Limousin-sired calves performed similarly; the only exception was that Piemontese-sired calves had a greater dressing percentage. Belgian Blue- and Limousin-sired calves performed similarly when fattened by specialized beef producers. In both veal and beef production, the effects of dam breed were less important than sire breed. Considering the entire project, we can conclude that the combined use of sexed semen for purebreeding and conventional beef semen for terminal crossbreeding improves meat production from dairy herds, especially when the sires are double-muscled beef breeds.

Short communication: Pure-breeding with sexed semen and crossbreeding with semen from double-muscled sires to improve beef production from dairy herds: Weight and value of calves.

The use of sexed semen to produce purebred replacement heifers allows a large proportion of dairy cows to be mated to double-muscled sires and for quantitative and qualitative improvements to be made to beef production from dairy herds. A survey of 1,285 crossbred calves showed that they are destined not only for veal production (like purebred dairy calves) but also for beef production. Crossbred calves obtained from Belgian Blue sires (sold on average at 34 d of age and 64 kg of weight) had a higher market value (€363/calf) than those obtained from double-muscled INRA 95 sires (€297/calf, used for veal production) and from Limousin sires (€216/calf for veal and €271/calf for beef production). As a sire breed, Simmental did not differ significantly from Belgian Blue, but as a dam breed, the crossbred calves fetched a higher price (€5.11/kg) than when Holstein was the dam breed (€4.50/kg). Compared with heifer calves, crossbred bull calves at sale were younger (34.1 vs. 37.2 d) and heavier (64.0 vs. 62.6 kg of live weight), fetched a higher price (€5.13 vs. €4.99/kg), and had a greater value (€328 vs. €312/calf). As the value of purebred dairy calves was about €80 to €100/calf, we are able to confirm that the combined use of sexed semen for pure-breeding and conventional beef semen for terminal crossbreeding can increase the income from dairy farms, especially when the sires are double-muscled beef bulls.

Pure-breeding with sexed semen and crossbreeding with semen of double-muscled sires to improve beef production from dairy herds: Factors affecting heifer and cow fertility and the sex ratio.

Using sexed semen to produce purebred replacement heifers makes it possible to mate a large proportion of dairy cows to double-muscled sires and to quantitatively and qualitatively improve beef production and increase the income from dairy herds. Net profit first depends on changes in the farm's overall fertility rate. The objective of this study was to analyze the conception rate in herds using a combination of conventional dairy semen (for pure- and crossbreeding), X-sorted dairy semen (to produce purebred replacement heifers), and conventional beef semen (for terminal crossbreeding). Data were obtained from 50,785 inseminations of 15,580 dairy cows (78% Holstein-Friesian, 15% Brown Swiss, 2% Simmental, and 5% crossbreds) from 106 dairy farms (average milk yield 35.1 ± 9.4 kg/d, with 3.76 ± 0.83% fat and 3.32 ± 0.39% protein contents). To account for the main potential confounders, we used separate generalized linear mixed-effects models for cows and virgin heifers. The results showed that the odds ratio of conception improved (1.00 to 1.34) with an increase in the average milk yield of the herd but worsened (1.12 to 0.70) with an increase in the milk yield of individual cows within herd. The summer months showed a strong reduction in the odds ratio of conception in cows (0.56 in July and August) but not in virgin heifers. Multiparous cows had a lower odds ratio of conception (0.85) than primiparous cows (1.00). The order of insemination did not affect the fertility of the cows or heifers, whereas the odds ratio of conception improved with advancing lactation (1.00 to 2.12). The Simmental cows were more fertile than Holstein-Friesians (1.37 vs. 1.00), whereas the fertility of the heifers was not affected by breed. Taking all these possible confounders into account simultaneously, in pure-breeding the odds ratio of conception using sexed semen did not differ from that using conventional dairy semen in cows (0.90 vs. 1.00) or in virgin heifers (0.95 vs. 1.00). However, crossbreeding using conventional beef and dairy semen improved the odds ratio of conception (1.10 and 1.17, respectively) in cows (1.37 using beef semen) and heifers (1.25 using dairy semen). The proportion of newborn heifer calves was ≥90% using sexed dairy semen. The combined use of sexed semen, especially on heifers, to produce purebred replacement females and beef semen to produce terminal crossbred calves was shown to have the potential to increase overall herd fertility, which could be further improved using sexed dairy semen to produce dairy crossbreds instead of purebred replacement heifers.

Relative extended haplotype homozygosity signals across breeds reveal dairy and beef specific signatures of selection.

BACKGROUND: A number of methods are available to scan a genome for selection signatures by evaluating patterns of diversity within and between breeds. Among these, "extended haplotype homozygosity" (EHH) is a reliable approach to detect genome regions under recent selective pressure. The objective of this study was to use this approach to identify regions that are under recent positive selection and shared by the most representative Italian dairy and beef cattle breeds. RESULTS: A total of 3220 animals from Italian Holstein (2179), Italian Brown (775), Simmental (493), Marchigiana (485) and Piedmontese (379) breeds were genotyped with the Illumina BovineSNP50 BeadChip v.1. After standard quality control procedures, genotypes were phased and core haplotypes were identified. The decay of linkage disequilibrium (LD) for each core haplotype was assessed by measuring the EHH. Since accurate estimates of local recombination rates were not available, relative EHH (rEHH) was calculated for each core haplotype. Genomic regions that carry frequent core haplotypes and with significant rEHH values were considered as candidates for recent positive selection. Candidate regions were aligned across to identify signals shared by dairy or beef cattle breeds. Overall, 82 and 87 common regions were detected among dairy and beef cattle breeds, respectively. Bioinformatic analysis identified 244 and 232 genes in these common genomic regions. Gene annotation and pathway analysis showed that these genes are involved in molecular functions that are biologically related to milk or meat production. CONCLUSIONS: Our results suggest that a multi-breed approach can lead to the identification of genomic signatures in breeds of cattle that are selected for the same production goal and thus to the localisation of genomic regions of interest in dairy and beef production.

Genetic diversity of Italian goat breeds assessed with a medium-density SNP chip.

BACKGROUND: Among the European countries, Italy counts the largest number of local goat breeds. Thanks to the recent availability of a medium-density SNP (single nucleotide polymorphism) chip for goat, the genetic diversity of Italian goat populations was characterized by genotyping samples from 14 Italian goat breeds that originate from different geographical areas with more than 50 000 SNPs evenly distributed on the genome. RESULTS: Analysis of the genotyping data revealed high levels of genetic polymorphism and an underlying North-south geographic pattern of genetic diversity that was highlighted by both the first dimension of the multi-dimensional scaling plot and the Neighbour network reconstruction. We observed a moderate and weak population structure in Northern and Central-Southern breeds, respectively, with pairwise FST values between breeds ranging from 0.013 to 0.164 and 7.49 % of the total variance assigned to the between-breed level. Only 2.11 % of the variance explained the clustering of breeds into geographical groups (Northern, Central and Southern Italy and Islands). CONCLUSIONS: Our results indicate that the present-day genetic diversity of Italian goat populations was shaped by the combined effects of drift, presence or lack of gene flow and, to some extent, by the consequences of traditional management systems and recent demographic history. Our findings may constitute the starting point for the development of marker-assisted approaches, to better address future breeding and management policies in a species that is particularly relevant for the medium- and long-term sustainability of marginal regions.

Revisiting AFLP fingerprinting for an unbiased assessment of genetic structure and differentiation of taurine and zebu cattle.

BACKGROUND: Descendants from the extinct aurochs (Bos primigenius), taurine (Bos taurus) and zebu cattle (Bos indicus) were domesticated 10,000 years ago in Southwestern and Southern Asia, respectively, and colonized the world undergoing complex events of admixture and selection. Molecular data, in particular genome-wide single nucleotide polymorphism (SNP) markers, can complement historic and archaeological records to elucidate these past events. However, SNP ascertainment in cattle has been optimized for taurine breeds, imposing limitations to the study of diversity in zebu cattle. As amplified fragment length polymorphism (AFLP) markers are discovered and genotyped as the samples are assayed, this type of marker is free of ascertainment bias. In order to obtain unbiased assessments of genetic differentiation and structure in taurine and zebu cattle, we analyzed a dataset of 135 AFLP markers in 1,593 samples from 13 zebu and 58 taurine breeds, representing nine continental areas. RESULTS: We found a geographical pattern of expected heterozygosity in European taurine breeds decreasing with the distance from the domestication centre, arguing against a large-scale introgression from European or African aurochs. Zebu cattle were found to be at least as diverse as taurine cattle. Western African zebu cattle were found to have diverged more from Indian zebu than South American zebu. Model-based clustering and ancestry informative markers analyses suggested that this is due to taurine introgression. Although a large part of South American zebu cattle also descend from taurine cows, we did not detect significant levels of taurine ancestry in these breeds, probably because of systematic backcrossing with zebu bulls. Furthermore, limited zebu introgression was found in Podolian taurine breeds in Italy. CONCLUSIONS: The assessment of cattle diversity reported here contributes an unbiased global view to genetic differentiation and structure of taurine and zebu cattle populations, which is essential for an effective conservation of the bovine genetic resources.

Transcriptome-wide mapping of milk somatic cells upon subclinical mastitis infection in dairy cattle.

BACKGROUND: Subclinical intramammary infection (IMI) represents a significant problem in maintaining dairy cows' health. Disease severity and extent depend on the interaction between the causative agent, environment, and host. To investigate the molecular mechanisms behind the host immune response, we used RNA-Seq for the milk somatic cells (SC) transcriptome profiling in healthy cows (n = 9), and cows naturally affected by subclinical IMI from Prototheca spp. (n = 11) and Streptococcus agalactiae (S. agalactiae; n = 11). Data Integration Analysis for Biomarker discovery using Latent Components (DIABLO) was used to integrate transcriptomic data and host phenotypic traits related to milk composition, SC composition, and udder health to identify hub variables for subclinical IMI detection. RESULTS: A total of 1,682 and 2,427 differentially expressed genes (DEGs) were identified when comparing Prototheca spp. and S. agalactiae to healthy animals, respectively. Pathogen-specific pathway analyses evidenced that Prototheca's infection upregulated antigen processing and lymphocyte proliferation pathways while S. agalactiae induced a reduction of energy-related pathways like the tricarboxylic acid cycle, and carbohydrate and lipid metabolism. The integrative analysis of commonly shared DEGs between the two pathogens (n = 681) referred to the core-mastitis response genes, and phenotypic data evidenced a strong covariation between those genes and the flow cytometry immune cells (r2 = 0.72), followed by the udder health (r2 = 0.64) and milk quality parameters (r2 = 0.64). Variables with r ≥ 0.90 were used to build a network in which the top 20 hub variables were identified with the Cytoscape cytohubba plug-in. The genes in common between DIABLO and cytohubba (n = 10) were submitted to a ROC analysis which showed they had excellent predictive performances in terms of discriminating healthy and mastitis-affected animals (sensitivity > 0.89, specificity > 0.81, accuracy > 0.87, and precision > 0.69). Among these genes, CIITA could play a key role in regulating the animals' response to subclinical IMI. CONCLUSIONS: Despite some differences in the enriched pathways, the two mastitis-causing pathogens seemed to induce a shared host immune-transcriptomic response. The hub variables identified with the integrative approach might be included in screening and diagnostic tools for subclinical IMI detection.

A First Investigation into the Use of Differential Somatic Cell Count as a Predictor of Udder Health in Sheep.

Differential somatic cell count (DSCC), the percentage of somatic cell count (SCC) due to polymorphonuclear leukocytes (PMNs) and lymphocytes (LYMs), is a promising effective diagnostic marker for dairy animals with infected mammary glands. Well-explored in dairy cows, DSCC is also potentially valid in sheep, where clinical and subclinical mastitis outbreaks are among the principal causes of culling. We pioneered the application of DSCC in dairy ewes by applying receiver-operating characteristic (ROC) curve analysis to define the most accurate thresholds to facilitate early discrimination of sheep with potential intramammary infection (IMI) from healthy animals. We tested four predefined SCC cut-offs established in previous research. Specifically, we applied SCC cut-offs of 265 × 103 cells/mL, 500 × 103 cells/mL, 645 × 103 cells/mL, and 1000 × 103 cells/mL. The performance of DSCC as a diagnostic test was assessed by examining sensitivity (Se), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV), and area under curve (AUC) analyses. The designated threshold value for DSCC in the detection of subclinical mastitis is established at 79.8%. This threshold exhibits Se and Sp of 0.84 and 0.81, accompanied by an AUC of 0.88. This study represents the inaugural exploration of the potential use of DSCC in sheep's milk as an early indicator of udder inflammation.

Genetic diversity in widespread species is not congruent with species richness in alpine plant communities.

The Convention on Biological Diversity (CBD) aims at the conservation of all three levels of biodiversity, that is, ecosystems, species and genes. Genetic diversity represents evolutionary potential and is important for ecosystem functioning. Unfortunately, genetic diversity in natural populations is hardly considered in conservation strategies because it is difficult to measure and has been hypothesised to co-vary with species richness. This means that species richness is taken as a surrogate of genetic diversity in conservation planning, though their relationship has not been properly evaluated. We tested whether the genetic and species levels of biodiversity co-vary, using a large-scale and multi-species approach. We chose the high-mountain flora of the Alps and the Carpathians as study systems and demonstrate that species richness and genetic diversity are not correlated. Species richness thus cannot act as a surrogate for genetic diversity. Our results have important consequences for implementing the CBD when designing conservation strategies.

The goat domestication process inferred from large-scale mitochondrial DNA analysis of wild and domestic individuals.

The emergence of farming during the Neolithic transition, including the domestication of livestock, was a critical point in the evolution of human kind. The goat (Capra hircus) was one of the first domesticated ungulates. In this study, we compared the genetic diversity of domestic goats to that of the modern representatives of their wild ancestor, the bezoar, by analyzing 473 samples collected over the whole distribution range of the latter species. This partly confirms and significantly clarifies the goat domestication scenario already proposed by archaeological evidence. All of the mitochondrial DNA haplogroups found in current domestic goats have also been found in the bezoar. The geographic distribution of these haplogroups in the wild ancestor allowed the localization of the main domestication centers. We found no haplotype that could have been domesticated in the eastern half of the Iranian Plateau, nor further to the east. A signature of population expansion in bezoars of the C haplogroup suggests an early domestication center on the Central Iranian Plateau (Yazd and Kerman Provinces) and in the Southern Zagros (Fars Province), possibly corresponding to the management of wild flocks. However, the contribution of this center to the current domestic goat population is rather low (1.4%). We also found a second domestication center covering a large area in Eastern Anatolia, and possibly in Northern and Central Zagros. This last domestication center is the likely origin of almost all domestic goats today. This finding is consistent with archaeological data identifying Eastern Anatolia as an important domestication center.

Genetic diversity of sheep breeds from Albania, Greece, and Italy assessed by mitochondrial DNA and nuclear polymorphisms (SNPs).

We employed mtDNA and nuclear SNPs to investigate the genetic diversity of sheep breeds of three countries of the Mediterranean basin: Albania, Greece, and Italy. In total, 154 unique mtDNA haplotypes were detected by means of D-loop sequence analysis. The major nucleotide diversity was observed in Albania. We identified haplogroups, A, B, and C in Albanian and Greek samples, while Italian individuals clustered in groups A and B. In general, the data show a pattern reflecting old migrations that occurred in postneolithic and historical times. PCA analysis on SNP data differentiated breeds with good correspondence to geographical locations. This could reflect geographical isolation, selection operated by local sheep farmers, and different flock management and breed admixture that occurred in the last centuries.

Bacterial species present in the lower male genital tract: a five-year retrospective study.

OBJECTIVES: To identify bacterial species present in the lower genital tract of males and to investigate the relationship with semen quality. METHODS: The microscopic analyses and cultures of 696 semen specimens, collected over five years from males investigated for subfertility, were retrospectively assessed. RESULTS: Semen cultures were sterile in 48%; they showed a polymicrobial flora (more than two bacterial species) in 30%, and were positive (>1 × 10(3) colony forming units/ml) in 22% of the cases. Gardnerella vaginalis was the most frequently isolated bacterium, followed by Escherichia coli and Enterococcus sp. Ureaplasma urealyticum was recovered from 13 of 147 samples (9%). Of patients with bacteriospermia 42% had leukospermia (>10(6) leukocytes/ml of semen). Bacteriospermia and leukospermia did not correlate with each other although a positive correlation was found between the presence of leukocytes and G. vaginalis isolation. Semen parameters were correlated with the bacterial species isolated most frequently. In comparison with controls, sperm concentration, motility and morphology were mostly deteriorated in the presence of G. vaginalis and U. urealyticum. CONCLUSIONS: Positive seminal fluid cultures must be interpreted with caution, taking into account both raised colony counts of single isolates and leukocyte concentration in the semen. Thus the common misdiagnosis of genital tract infection, based on the presence of seminal bacteria, and unnecessary treatment with antibiotics may be avoided.

The Quest for Genes Involved in Adaptation to Climate Change in Ruminant Livestock.

Livestock radiated out from domestication centres to most regions of the world, gradually adapting to diverse environments, from very hot to sub-zero temperatures and from wet and humid conditions to deserts. The climate is changing; generally global temperature is increasing, although there are also more extreme cold periods, storms, and higher solar radiation. These changes impact livestock welfare and productivity. This review describes advances in the methodology for studying livestock genomes and the impact of the environment on animal production, giving examples of discoveries made. Sequencing livestock genomes has facilitated genome-wide association studies to localize genes controlling many traits, and population genetics has identified genomic regions under selection or introgressed from one breed into another to improve production or facilitate adaptation. Landscape genomics, which combines global positioning and genomics, has identified genomic features that enable animals to adapt to local environments. Combining the advances in genomics and methods for predicting changes in climate is generating an explosion of data which calls for innovations in the way big data sets are treated. Artificial intelligence and machine learning are now being used to study the interactions between the genome and the environment to identify historic effects on the genome and to model future scenarios.

Anti-Glycan Autoantibodies Induced by Helicobacter pylori as a Potential Risk Factor for Myocardial Infarction.

A number of epidemiological studies have evaluated the potential association between H. pylori and cardiovascular disease, but with contrasting results. We have previously shown that Helicobacter pylori infection is able to induce in mice and humans autoantibodies cross-reacting with histo-blood group Lewis antigens, expressed in different organs and in plasma glycoproteins and glycolipids. The aim of this study was to assess whether immunization of animals with H. pylori might induce myocardial histopathological changes. We have retrospectively examined, in detail, the histology of archived organs from mice and rabbits immunized with H. pylori in our previous studies. Human sera and cross-reacting monoclonal antibodies were also tested against bacterial preparations and tissue sections. Areas of myocardial necrosis, associated with coronary thrombotic occlusion, were found in 5 of 20 mice and 2 of 5 rabbits previously immunized with suspensions of H. pylori. No similar lesions were found in control animals, suggesting a causal link with H. pylori immunization. The animals bearing myocardial lesions had not been infected but only immunized months earlier with parenteral injections of dead H. pylori cells. This strongly suggests that immunization, by itself, might play a causative role. We propose that the cross-reactive autoimmune response induced by H. pylori could promote thrombotic occlusion through direct endothelial damage or by perturbing the coagulation process.

Phenotypic Characterization of Milk Yield and Quality Traits in a Large Population of Water Buffaloes.

The buffalo milk industry has economic and social relevance in Italy, as linked to the manufacture of traditional dairy products. To provide an overview of the current status of buffaloes' performances on a large scale, almost 1 million milk test-day records from 72,294 buffaloes were available to investigate milk yield, energy corrected milk, fat, protein, and lactose content, and somatic cell score (SCS). Phenotypic correlations between milk traits were calculated and analysis of variance was carried out through a mixed model approach including fixed effect of parity, stage of lactation, sampling time, month of calving, and all their interactions and random effects of buffalo, herd-test-date, and residual. Third-parity buffaloes were the most productive in terms of milk yield, while the lowest solid content was detected in sixth parity buffaloes. A considerable gap between primiparous and multiparous buffaloes was observed for milk yield, especially in early- and mid-lactation. Overall, SCS progressively increased with parity and showed a negative correlation with milk yield in both primiparous (-0.12) and multiparous (-0.14) buffaloes. Results suggested that, at the industrial level, milk of primiparous buffaloes may be preferred for transformation purposes, since it was characterized by greater solid content and lower SCS. Results of this study provide a picture of the Italian population of buffaloes under systematic performance records and might be beneficial to both dairy industry and breeding organizations.