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Breeding animals able to effectively respond to stress could be a long-term, sustainable, and affordable strategy to improve resilience and welfare in livestock systems. In the present study, the concentrations of 29 plasma biomarkers were used as candidate endophenotypes for metabolic stress response in single-SNP, gene- and haplotype-based GWAS using 739 healthy lactating Italian Holstein cows and 88,271 variants. Significant genetic associations were found in all the 3 GWAS approaches for plasma γ-glutamyl transferase concentration on BTA17, for paraoxonase on BTA4, and for alkaline phosphatase and zinc on BTA2. On these chromosomes, single-SNP and gene-based chromosome-wide association studies were performed, confirming GWAS findings. The signals identified for paraoxonase, γ-glutamyl transferase, and alkaline phosphatase were in proximity of the genes coding for them. The heritability of these 4 biomarkers ranged from moderate to high (from 0.39 to 0.54). Plasma biomarkers are known to undergo large changes in concentration during metabolic stress in the transition period, with an inter-individual variability in the rate of change and recovery time. Genetics may account in part for these differences. To assess this, we studied a subset of 139 periparturient cows homozygous at 3 SNPs known to be respectively associated with concentration of plasma ceruloplasmin, paraoxonase and γ-glutamyl transferase. We compared the immune-metabolic profile measured in plasma at -7, +5 and +30 d relative to calving between groups of opposite homozygotes. A significant effect of the genotype was found on paraoxonase and γ-glutamyl transferase plasma concentration at all the 3 time points. No evidence for genotype effect was detected for ceruloplasmin. Understanding the genetic control underlying metabolic stress response may suggest new approaches to foster resilience in dairy cows.
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Udder health in dairy herds is a very important issue given its implications for animal welfare and the production of high-quality milk. Somatic cell count (SCC) is the most widely used means of assessing udder health status. However, differential somatic cell count (DSCC) has recently been proposed as a new and more effective means of evaluating intramammary infection dynamics. Differential SCC represents the combined percentage of polymorphonuclear neutrophils and lymphocytes (PMN-LYM) in the total SCC, with macrophages (MAC) accounting for the remaining proportion. The aim of this study was to evaluate the association between SCC and DSCC and the detailed milk protein profile in a population of 1,482 Holstein cows. A validated reversed-phase HPLC method was used to quantify 4 caseins (CN), namely αS1-CN, αS2-CN, κ-CN, and ß-CN, and 3 whey protein fractions, namely ß-lactoglobulin, α-lactalbumin, and lactoferrin, which were expressed both quantitatively (g/L) and qualitatively (as a percentage of the total milk nitrogen content, %N). A linear mixed model was fitted to explore the associations between somatic cell score (SCS) combined with DSCC and the protein fractions expressed quantitatively and qualitatively. We ran an additional model that included DSCC expressed as PMN-LYM and MAC counts, obtained by multiplying the percentages of PMN-LYM and MAC by SCC for each cow in the data set. When the protein fractions were expressed as grams per liter, SCS was significantly negatively associated with almost all the casein fractions and positively associated with the whey protein α-lactalbumin, while DSCC was significantly associated with αS1-CN, ß-CN, and α-lactalbumin, but in the opposite direction to SCS. We observed the same pattern with the qualitative data (i.e., %N), confirming opposite effects of SCS and DSCC on milk protein fractions. The PMN-LYM count was only slightly associated with the traits of concern, although the pattern observed was the same as when both SCS and DSCC were included in the model. The MAC count, however, generally had a greater impact on many casein fractions, in particular decreasing both ß-CN content (g/L) and proportion (%N), and exhibited the opposite pattern to the PMN-LYM count. Our results show that information obtained from both SCS and DSCC may be useful in assessing milk quality and protein fractions. They also demonstrate the potential of MAC count as a novel udder health trait.
Asunto(s)
Caseínas , Proteínas de la Leche , Animales , Bovinos , Recuento de Células/métodos , Recuento de Células/veterinaria , Femenino , Lactalbúmina , Proteína de Suero de LecheRESUMEN
In this study, we investigated associations among subclinical intra-mammary infection (IMI) and quarter-level milk composition, udder health indicators, and cheesemaking traits. The dataset included records from 450 Holstein cows belonging to three dairy herds. After an initial screening (T0) to identify animals infected by Streptococcus agalactiae, Streptococcus uberis, Staphylococcus aureus, and Prototheca spp., 613 quarter milk samples for 2 different sampling times (T1 and T2, 1 mo after T1) were used for analysis. Milk traits were analyzed using a hierarchical linear mixed model including the effects of days in milk, parity and herd, and bacteriological and inflammatory category [culture negative with somatic cell count (SCC) <200,000 cells/mL; culture negative with SCC ≥200,000 cells/mL; or culture positive]. All udder health indicators were associated with increased SCC and IMI at both sampling times. The largest effects were detected at T2 for milk lactose (-7% and -5%) and milk conductivity (+9% and +8%). In contrast, the increase in differential SCC (DSCC) in samples with elevated SCC was larger at T1 (+17%). Culture-negative samples with SCC ≥200,000 cells/mL had the highest SCC and greatest numbers of polymorphonuclear-neutrophils-lymphocytes and macrophages at both T1 and T2. Regarding milk cheesemaking ability, samples with elevated SCC showed the worst pattern of curd firmness at T1 and T2. At T2, increased SCC and IMI induced large decreases in recoveries of nutrients into the curd, in particular recovered protein (-14% and -16%) and recovered fat (-12% and -14%). Different behaviors were observed between Strep. agalactiae and Prototheca spp., especially at T2. In particular, samples that were positive for Strep. agalactiae had higher proportions of DSCC (+19%) compared with negative samples with low SCC, whereas samples that were positive for Prototheca spp. had lower DSCC (-11%). Intramammary infection with Prototheca spp. increased milk pH compared with culture-negative samples (+3%) and negative samples that had increased SCC (+2%). The greatest impairment in curd firmness at 30 min from rennet addition was observed for samples that were positive for Prototheca spp. (-99% compared with negative samples, and -98% compared with negative samples with high SCC). These results suggest that IMI caused by Prototheca spp. have detrimental effects on milk technological traits that deserve further investigation of the mechanisms underlying animals' responses to infection.
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Enfermedades de los Bovinos , Mastitis Bovina , Prototheca , Animales , Bovinos , Enfermedades de los Bovinos/metabolismo , Recuento de Células/veterinaria , Femenino , Glándulas Mamarias Animales , Mastitis Bovina/diagnóstico , Leche/metabolismo , EmbarazoRESUMEN
Mastitis is one of the most prevalent diseases in dairy cattle and is the cause of considerable economic losses. Alongside somatic cell count (SCC), differential somatic cell count (DSCC) has been recently introduced as a new indicator of intramammary infection. The DSCC is expressed as a count or a proportion (%) of polymorphonuclear neutrophils plus lymphocytes (PMN-LYM) in milk somatic cells. These numbers are complemented to total somatic cell count or to 100 by macrophages (MAC). The aim of this study was to investigate the genetic variation and heritability of DSCC, and its correlation with milk composition, udder health indicators, milk composition, and technological traits in Holstein cattle. Data used in the analysis consisted in single test-day records from 2,488 Holstein cows reared in 36 herds located in northern Italy. Fourier-transform infrared (FTIR) spectroscopy was used to predict missing information for some milk coagulation and cheese-making traits, to increase sample size and improve estimation of the genetic parameters. Bayesian animal models were implemented via Gibbs sampling. Marginal posterior means of the heritability estimates were 0.13 for somatic cell score (SCS); 0.11 for DSCC, MAC proportion, and MAC count; and 0.10 for PMN-LYM count. Posterior means of additive genetic correlations between SCS and milk composition and udder health were low to moderate and unfavorable. All the relevant genetic correlations between the SCC traits considered and the milk traits (composition, coagulation, cheese yield and nutrients recovery) were unfavorable. The SCS showed genetic correlations of -0.30 with the milk protein proportion, -0.56 with the lactose proportion and -0.52 with the casein index. In the case of milk technological traits, SCS showed genetic correlations of 0.38 with curd firming rate (k20), 0.45 with rennet coagulation time estimated using the curd firming over time equation (RCTeq), -0.39 with asymptotic potential curd firmness, -0.26 with maximum curd firmness (CFmax), and of -0.31 with protein recovery in the curd. Differential somatic cell count expressed as proportion was correlated with SCS (0.60) but had only 2 moderate genetic correlations with milk traits: with lactose (-0.32) and CFmax (-0.33). The SCS was highly correlated with the log PMN-LYM count (0.79) and with the log MAC count (0.69). The 2 latter traits were correlated with several milk traits: fat (-0.38 and -0.43 with PMN-LYM and MAC counts, respectively), lactose percentage (-0.40 and -0.46), RCTeq (0.53 and 0.41), tmax (0.38 and 0.48). Log MAC count was correlated with k20 (+0.34), and log PMN-LYM count was correlated with CFmax (-0.26) and weight of water curd as percentage of weight of milk processed (-0.26). The results obtained offer new insights into the relationships between the indicators of udder health and the milk technological traits in Holstein cows.
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Queso , Animales , Teorema de Bayes , Bovinos/genética , Recuento de Células/veterinaria , Femenino , Leche , Proteínas de la Leche , FenotipoRESUMEN
In the European rabbit (Oryctolagus cuniculus), a polytocous livestock species, the number of teats indirectly impacts the doe reproduction efficiency and, in turn, the sustainable production of rabbit meat. In this study, we carried out a genome-wide association study (GWAS) for the total number of teats in 247 Italian White does included in the Italian White rabbit breed selection program, by applying a selective genotyping approach. Does had either 8 (n = 121) or 10 teats (n = 126). All rabbits were genotyped with the Affymetrix Axiom OrcunSNP Array. Genomic data from the two extreme groups of rabbits were also analysed with the single-marker fixation index statistic and combined with the GWAS results. The GWAS identified 50 significant SNPs and the fixation index analysis identified a total of 20 SNPs that trespassed the 99.98th percentile threshold, 19 of which confirmed the GWAS results. The most significant SNP (P = 4.31 × 10-11 ) was located on OCU1, close to the NUDT2 gene, a breast carcinoma cells proliferation promoter. Another significant SNP identified as candidate gene NR6A1, which is well known to play an important role in affecting the correlated number of vertebrae in pigs. Other significant markers were close to candidate genes involved in determining body length in mice. Markers associated with increased number of teats could be included in selection programmes to speed up the improvement for this trait in rabbit lines that need to increase maternal performances.
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Glándulas Mamarias Animales/anatomía & histología , Conejos/genética , Animales , Cruzamiento , Femenino , Estudios de Asociación Genética/veterinaria , Marcadores Genéticos , Técnicas de Genotipaje/veterinaria , Fenotipo , Polimorfismo de Nucleótido Simple , Conejos/anatomía & histologíaRESUMEN
With the increasing availability of both molecular and topo-climatic data, the main challenges facing landscape genomics - that is the combination of landscape ecology with population genomics - include processing large numbers of models and distinguishing between selection and demographic processes (e.g. population structure). Several methods address the latter, either by estimating a null model of population history or by simultaneously inferring environmental and demographic effects. Here we present samßada, an approach designed to study signatures of local adaptation, with special emphasis on high performance computing of large-scale genetic and environmental data sets. samßada identifies candidate loci using genotype-environment associations while also incorporating multivariate analyses to assess the effect of many environmental predictor variables. This enables the inclusion of explanatory variables representing population structure into the models to lower the occurrences of spurious genotype-environment associations. In addition, samßada calculates local indicators of spatial association for candidate loci to provide information on whether similar genotypes tend to cluster in space, which constitutes a useful indication of the possible kinship between individuals. To test the usefulness of this approach, we carried out a simulation study and analysed a data set from Ugandan cattle to detect signatures of local adaptation with samßada, bayenv, lfmm and an FST outlier method (FDIST approach in arlequin) and compare their results. samßada - an open source software for Windows, Linux and Mac OS X available at http://lasig.epfl.ch/sambada - outperforms other approaches and better suits whole-genome sequence data processing.
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Biota , Biología Computacional/métodos , Ecosistema , Exposición a Riesgos Ambientales , Genómica/métodos , Adaptación Biológica , Animales , Bovinos , Genética de Población , Genotipo , Selección GenéticaRESUMEN
Objective of this study was to estimate genetic parameters of milk coagulation properties (MCPs) and individual laboratory cheese yield (ILCY) in a sample of 1018 Sarda breed ewes farmed in 47 flocks. Rennet coagulation time (RCT), curd-firming time (k 20) and curd firmness (a 30) were measured using Formagraph instrument, whereas ILCY were determined by a micromanufacturing protocol. About 10% of the milk samples did not coagulate within 30 min and 13% had zero value for k 20. The average ILCY was 36%. (Co)variance components of considered traits were estimated by fitting both single- and multiple-trait animal models. Flock-test date explained from 13% to 28% of the phenotypic variance for MCPs and 26% for ILCY, respectively. The largest value of heritability was estimated for RCT (0.23±0.10), whereas it was about 0.15 for the other traits. Negative genetic correlations between RCT and a 30 (-0.80±0.12), a 30 and k 20 (-0.91±0.09), and a 30 and ILCY (-0.67±0.08) were observed. Interesting genetic correlations between MCPs and milk composition (r G>0.40) were estimated for pH, NaCl and casein. Results of the present study suggest to use only one out of three MCPs to measure milk renneting ability, due to high genetic correlations among them. Moreover, negative correlations between ILCY and MCPs suggest that great care should be taken when using these methods to estimate cheese yield from small milk samples.
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Leche/química , Ovinos/genética , Animales , Cruzamiento , Caseínas/metabolismo , Queso , Quimosina/metabolismo , Industria Lechera , Femenino , Leche/metabolismo , Proteínas de la Leche/metabolismo , Fenotipo , Ovinos/fisiologíaRESUMEN
Lipid self-assembled structures (SASs) have recently gained considerable interest for their potential applications, especially for sustained nutrient release and protein crystallization. An additional property, which is underexploited, is their ability to control chemical reactions in food products. Here, we concentrate on SASs formed by phospholipids (PLs) and monoglycerides (MGs), those compounds being the most natural surfactants and therefore, the best compatible with food products, in view of providing new functionalities through the formation of SASs. In this work, the phase behaviour of these amphiphiles when mixed with oil and water is described and compared. Subsequently, we address the influence of these structures to the oxidation and Maillard-type reactions. Finally, we show that SASs formed by MGs can strongly increase the yield of key aroma impact compounds generated by Maillard-type reactions when compared with the reaction performed in aqueous precursor solutions. Various SASs are compared. In particular, addition of oil to a reversed bicontinuous structure formed by MG leads to a reversed microemulsion, which, considering its low viscosity, is particularly suitable for food products and act as a very efficient reactor system. The influence of oil and precursors on phase behaviour is discussed and related to the efficiency of the Maillard reactions.This article is part of the themed issue 'Soft interfacial materials: from fundamentals to formulation'.
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Coloides/química , Furanos/química , Monoglicéridos/química , Fosfolípidos/química , Coloides/metabolismo , Análisis de los Alimentos , Furanos/metabolismo , Reacción de Maillard , Monoglicéridos/metabolismo , Oxidación-Reducción , Fosfolípidos/metabolismo , Dispersión del Ángulo Pequeño , Difracción de Rayos X , Xilosa/química , Xilosa/metabolismoRESUMEN
Iranian livestock diversity is still largely unexplored, in spite of the interest in the populations historically reared in this country located near the Fertile Crescent, a major livestock domestication centre. In this investigation, the genetic diversity and differentiation of 10 Iranian indigenous fat-tailed sheep breeds were investigated using 18 microsatellite markers. Iranian breeds were found to host a high level of diversity. This conclusion is substantiated by the large number of alleles observed across loci (average 13.83, range 7-22) and by the high within-breed expected heterozygosity (average 0.75, range 0.72-0.76). Iranian sheep have a low level of genetic differentiation, as indicated by the analysis of molecular variance, which allocated a very small proportion (1.67%) of total variation to the between-population component, and by the small fixation index (FST = 0.02). Both Bayesian clustering and principal coordinates analysis revealed the absence of a detectable genetic structure. Also, no isolation by distance was observed through comparison of genetic and geographical distances. In spite of high within-breed variation, signatures of inbreeding were detected by the FIS indices, which were positive in all and statistically significant in three breeds. Possible factors explaining the patterns observed, such as considerable gene flow and inbreeding probably due to anthropogenic activities in the light of population management and conservation programmes, are discussed.
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Variación Genética , Genética de Población , Oveja Doméstica/genética , Alelos , Animales , Teorema de Bayes , Genotipo , Heterocigoto , Endogamia , Irán , Repeticiones de MicrosatéliteRESUMEN
OBJECTIVE: This study compared the neonatal results of low weight neonates born by cesarean and vaginal delivery. DESIGN: A retrospective cohort study. SETTING: Maternity of Hospital - Irmandade Santa Casa de Misericórdia de São Paulo, Brazil. METHODS: The analysis included the neonates born alive, of unique pregnancy, <2000 g from October 1999 to July 2013. To obtain the information about the neonatal period, as well as their Apgar score in the 1st and 5th min of life, a search in the database of a neonatal intensive care unit was performed. RESULTS: In total, 830 neonates were included as per the study criteria. Of these, 519 (62.5%) were born by cesarean delivery and 311 (37.5%) by vaginal delivery. There was a statistically significant difference in the incidence of neonatal complications, with better results in the neonates born by vaginal delivery, except for the group with neonates <1500 g. In this group, there was a higher incidence of intracranial hemorrhage and death before discharge from the hospital. There was also a higher incidence of respiratory distress syndrome and intraventricular hemorrhage in neonates born by vaginal delivery, in all weight groups. Comparing the Apgar scores, there was a statistically significant difference between the delivery modes, with better results observed in the ones born by vaginal delivery. However, the opposite was observed in the group with neonates <1000 g. CONCLUSION: There was no indication of cesarean delivery benefits in neonates 1000-2000 g. However, the opposite was observed when the neonates were <1000 g.
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Cesárea , Resultado del Embarazo , Puntaje de Apgar , Brasil , Femenino , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Recien Nacido Prematuro , Mortalidad Perinatal , Embarazo , Estudios RetrospectivosRESUMEN
We genotyped 58 single nucleotide polymorphisms (SNPs) in 25 candidate genes in about 800 Italian Holstein sires. Fifty-six (minor allele frequency >0.02) were used to evaluate their association with single traits: milk yield (MY), milk fat yield (FY), milk protein yield (PY), milk fat percentage (FP), milk protein percentage (PP), milk somatic cell count (MSCC); and complex indexes: longevity, fertility and productivity-functionality type (PFT), using deregressed proofs, after adjustment for familial relatedness. Thirty-two SNPs were significantly associated (proportion of false positives <0.05) with different traits: 16 with MSCC, 15 with PY, 14 with MY, 12 with PFT, eight with longevity, eight with FY, eight with PP, five with FP and two with fertility. In particular, a SNP in the promoter region of the PRLR gene was associated with eight of nine traits. DGAT1 polymorphisms were highly associated with FP and FY. Casein gene markers were associated with several traits, confirming the role of the casein gene cluster in affecting milk yield, milk quality and health traits. Other SNPs in genes located on chromosome 6 were associated with PY, PP, PFT, MY (PPARGC1A) and MSCC (KIT). This latter association may suggest a biological link between the degree of piebaldism in Holstein and immunological functions affecting somatic cell count and mastitis resistance. Other significant SNPs were in the ACACA, CRH, CXCR1, FASN, GH1, LEP, LGB (also known as PAEP), MFGE8, SRC, TG, THRSP and TPH1 genes. These results provide information that can complement QTL mapping and genome-wide association studies in Holstein.
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Bovinos/fisiología , Polimorfismo de Nucleótido Simple , Animales , Bovinos/genética , Industria Lechera , Femenino , Estudio de Asociación del Genoma Completo/veterinaria , Italia , Masculino , Datos de Secuencia Molecular , Fenotipo , Análisis de Secuencia de ADN/veterinariaRESUMEN
Since its domestication, about 5000 years ago, the donkey (Equus asinus) has been extensively used as a work or draft animal in agricultural activities and for the transportation of people and goods. In the last century, technology improvement and growing mechanization strongly affected agriculture and the management and use of this livestock species in the industrialized countries. Nowadays, the use of donkeys for work or transport has almost disappeared, together with the need for mules or hinny breeding. During the last five decades, Italian autochthonous donkey populations suffered from a severe reduction in population size, which led to the extinction of several breeds. At present, eight breeds remain, all classified by FAO as critically endangered or endangered: Asinara, Pantesco, Grigio Siciliano, Romagnolo, Amiatino, Sardo Grigio, Martina Franca, and Ragusano. To evaluate the extant genetic variability of Italian donkeys, we typed 16 microsatellite loci in 258 individuals from these breeds. The results highlighted moderate levels of inbreeding ( F (IS) = 0.127) and a significant partition of genetic variation into breeds, as suggested by fixation index ( F (ST) = 0.109) and analysis of molecular variance (10.86% of total variation assigned to the between-breeds level) analyses. This was confirmed by a Bayesian clustering procedure that also highlighted a further partitioning at lower hierarchical levels corresponding to the farms of origin. This evidence suggests that an effective management strategy for Italian donkey populations should focus on breeds as conservation units. However, this requires a synergic management strategy at the farm level to maintain diversity and avoid inbreeding.
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Equidae/genética , Variación Genética , Repeticiones de Microsatélite , Alelos , Crianza de Animales Domésticos , Animales , Teorema de Bayes , Núcleo Celular/genética , Conservación de los Recursos Naturales , Demografía , Italia , Modelos Genéticos , Densidad de PoblaciónRESUMEN
Functional agro biodiversity defines the exploitation of biodiversity to provide ecosystem services, support sustainable agricultural production and benefit the regional and global environment and the public at large (ELN-FAB, 2009; www.eln_fab.eu). Tracking of animal products back to the breed of origin based on their genetic make-up undoubtedly falls in this category. The aim of this paper was to identify and validate a set of single nucleotide polymorphisms (SNPs) in goat coat colour genes, most of which have not been investigated before, to trace five goat populations of the Italian Alps and their product. Several regions of 28 genes influencing coat colour pathways were amplified in eight animals (two per breed). Sequence comparison revealed 48 SNPs and three INDEL (INsertion DELetion). No breed-specific alleles were detected; however, several SNPs showed an uneven frequency distribution between breeds. In BIO, the genotype frequency distribution of a non-synonymous SNP suggested a possible role of TYRP1 in brown eumelanic goat coat colour. A total of 29 independent SNPs in 20 genes were selected and used to allocate 159 minimally related goat samples using STRUCTURE 2.2 and GeneClass 2 software. STRUCTURE 2.2 assigns 99% of individuals to the correct breed considering the prior information on putative breed of origin for each sample and 81% using only the genotypic data. The three algorithms available in GeneClass 2 performed with nearly equal efficiency, with 86% and 87% correct allocations. All the methods yielded an average probability of assignment >0.92 and a specificity index >0.86. Despite their coat colour variability, individuals belonging to ORO were fully assigned, showing that, in the absence of a breed-specific allele tied to coat colour, the best assignment resulted for the most genetically distinct breed. The lowest rate of correct assignment was observed in Verzaschese (73%), not ascertained in the breed panel used in the SNP discovery phase.
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Biodiversidad , Cabras/genética , Pigmentación/genética , Polimorfismo de Nucleótido Simple , Animales , Cruzamiento , ADN/sangre , ADN/aislamiento & purificación , Frecuencia de los Genes , Genotipo , Cabras/anatomía & histología , Heterocigoto , Desequilibrio de Ligamiento , FenotipoRESUMEN
Systematic uncertainties in the crayfish Austropotamobius pallipes are well grounded by the number of species and subspecies described using different approaches, causing scientists to define this taxon as "complex". However, a key task that conservation programmes are facing regarding the recent and drastic decline of European populations, is the coherent systematic classification of this threatened species. Here we present results obtained by coupling mtDNA and genome analysis suggestive of a novel evolutionary framework to explain the relationships among phylogenetic lineages of A. pallipes. The direct sequencing of mtDNA COI gene fragment revealed a strong geographic structure with four distinct haplogroups separated by a range of 5-25 mutations. However, mitochondrial data were not supported by genomic fingerprinting based on 535 AFLP polymorphisms. Nuclear markers showed an unexpected moderate level of genetic differentiation and the absence of any geographic structure. Consequently, this study proposes that the taxonomic hypothesis of a single species of A. pallipes settling the Italian continental waters, is affected by complex evolutionary events. To solve the paradox, we hypothesized an evolutive scenario in which the separation of ancient mtDNA lineages likely occurred before the latest glacial periods. However, the speciation process remained incomplete due to secondary intensive postglacial contacts that forced the mingling of the genomes, and confounds the phylogeographic signature still detectable within mtDNA. Postglacial dispersion and the following demographic events, such as founder effects, drift and bottlenecks, abruptly depleted the local mtDNA variation, and shaped the current genetic population structure of white-clawed crayfish.
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Astacoidea/clasificación , Astacoidea/genética , ADN Mitocondrial/genética , Especies en Peligro de Extinción , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados , Animales , Astacoidea/anatomía & histología , Secuencia de Bases , Dermatoglifia del ADN , Evolución Molecular , Variación Genética , Genoma , Haplotipos , Italia , Mitocondrias/genética , Filogenia , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Mariscos/clasificaciónRESUMEN
Domestication of livestock species and a long history of migrations, selection and adaptation have created an enormous variety of breeds. Conservation of these genetic resources relies on demographic characterization, recording of production environments and effective data management. In addition, molecular genetic studies allow a comparison of genetic diversity within and across breeds and a reconstruction of the history of breeds and ancestral populations. This has been summarized for cattle, yak, water buffalo, sheep, goats, camelids, pigs, horses, and chickens. Further progress is expected to benefit from advances in molecular technology.
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Animales Domésticos/genética , Biodiversidad , Animales , Cruzamiento , Bovinos , Bases de Datos Genéticas , Femenino , Variación Genética , Genética de Población , MasculinoRESUMEN
A large number of putative single nucleotide polymorphisms (SNPs) have been identified from the bovine genome-sequencing project. However, few of these have been validated and many will turn out to be sequencing artefacts or have low minor allele frequencies. In addition, there is little information available on SNPs within coding regions, which are likely to be responsible for phenotypic variation. Therefore, additional SNP discovery is necessary to identify and validate polymorphisms both in specific genes and genome-wide. Sequence-tagged sites within 286 genes were resequenced from a panel of animals representing a wide range of European cattle breeds. For 80 genes, no polymorphisms were identified, and 672 putative SNPs were identified within 206 genes. Fifteen European cattle breeds (436 individuals plus available parents) were genotyped with these putative SNPs, and 389 SNPs were confirmed to have minor allele frequencies above 10%. The genes containing SNPs were localized on chromosomes by radiation hybrid mapping and on the bovine genome sequence by Blast. Flanking microsatellite loci were identified, to facilitate the alignment of the genes containing the SNPs in relation to mapped quantitative trait loci. Of the 672 putative SNPs discovered in this work, only 11 were found among the validated SNPs and 100 were found among the approximately 2.3 million putative SNPs currently in dbSNP. The genes studied in this work could be considered as candidates for traits associated with beef production and the SNPs reported will help to assess the role of the genes in the genetic control of muscle development and meat quality. The allele frequency data presented allows the general utility of the SNPs to be assessed.
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Composición Corporal/genética , Bovinos/genética , Polimorfismo de Nucleótido Simple , Animales , Bovinos/anatomía & histología , Bovinos/crecimiento & desarrollo , Cromosomas de los Mamíferos , Frecuencia de los Genes , Fenotipo , Mapeo de Híbrido por Radiación , Análisis de Secuencia de ADNRESUMEN
Ureaplasma parvum colonises human mucosal surfaces, primarily in the urogenital and respiratory tracts, causing a wide spectrum of diseases, from non-gonococcal urethritis to pneumonitis in immunocompromised hosts. Although the basis for these diverse clinical outcomes is not yet understood, it has been suggested that only certain strains of these micro-organisms are disease-associated. The aim of this study was to determine the distribution of Ureaplasma biovars and U. parvum serovars and to estimate their possible association with age, absence of lactobacilli, clinical symptoms and antibiotic resistance. DNA was extracted by endocervical, vaginal and urethral samples obtained from 158 women positive for U. urealyticum by culture and were biotyped by polymerase chain reaction (PCR) targeting the multiple-banded gene. Parvo biovar (biovar 1) was found in 136 (86%) and T960 biovar (biovar 2) in 22 (14%) patients. Among the different serovars of U. parvum, we found that serovar 3/14 was present maximally in the 21-25-year-old age group, while T960 biovar was distributed with quite similar frequency in women of 26-30 and >40 years of age. In this study, U. parvum serovar 3/14 and T960 biovar were found to be significantly associated with symptomatic patients and a loss of lactobacilli, while, on the contrary, U. parvum serovar 6 was significantly correlated with asymptomatic women and normal vaginal flora. The most active antibiotic for the majority of Ureaplasma isolates was tetracycline. These preliminary data show the possibility of distinguishing between the more or less virulent strains of Ureaplasma, with important consequences for therapeutic treatment.
Asunto(s)
Técnicas de Tipificación Bacteriana , Genitales Femeninos/microbiología , Infecciones por Ureaplasma/microbiología , Ureaplasma/clasificación , Ureaplasma/aislamiento & purificación , Adulto , Factores de Edad , Antibacterianos/farmacología , ADN Bacteriano/genética , Femenino , Genotipo , Humanos , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa/métodos , Prevalencia , Tetraciclina/farmacología , Ureaplasma/genética , Adulto JovenRESUMEN
The effectiveness of single nucleotide polymorphisms (SNPs) for the assignment of cattle to their source breeds was investigated by analysing a panel of 90 SNPs assayed on 24 European breeds. Breed assignment was performed by comparing the Bayesian and frequentist methods implemented in the STRUCTURE 2.2 and GENECLASS 2 software programs. The use of SNPs for the reallocation of known individuals to their breeds of origin and the assignment of unknown individuals was tested. In the reallocation tests, the methods implemented in STRUCTURE 2.2 performed better than those in GENECLASS 2, with 96% vs. 85% correct assignments respectively. In contrast, the methods implemented in GENECLASS 2 showed a greater correct assignment rate in allocating animals treated as unknowns to a reference dataset (62% vs. 51% and 80% vs. 65% in field tests 1 and 2 respectively). These results demonstrate that SNPs are suitable for the assignment of individuals to reference breeds. The results also indicate that STRUCTURE 2.2 and GENECLASS 2 can be complementary tools to assess breed integrity and assignment. Our findings also stress the importance of a high-quality reference dataset in allocation studies.
Asunto(s)
Bovinos/genética , Polimorfismo de Nucleótido Simple , Algoritmos , Animales , Teorema de Bayes , Especificidad de la EspecieRESUMEN
Group B streptococcus (GBS) is the most common cause of neonatal and obstetric sepsis and an increasingly important cause of septicemia in elderly subjects and immunocompromised patients. Our aim was to evaluate whether different genotypes of GBS may induce a different production of pro-inflammatory and anti-inflammatory cytokines. We used multilocus sequence typing to identify 71 clones isolated from asymptomatic healthy carriers and symptomatic individuals. All these clinical isolates were used to infect purified human monocytes. TNF-alpha, IL-6, IL-8 and IL-10 secretion was measured. Fifteen allelic sequence types (STs) were identified. The MLST (multilocus sequence typing) analysis grouped the bacteria into four different lineages (clonal cluster) and two of these were closely involved in the infection of symptomatic subjects: CC17 and CC19. Furthermore, CC17 and CC19 stimulated TNF-alpha, IL-6 and IL-8 production significantly more than the other lineages, while CC17 induced a decreased IL-10 production. These results suggest the existence of differences in immune response to infection with particular genotypes of GBS.
Asunto(s)
Citocinas/metabolismo , ADN Bacteriano , Complicaciones Infecciosas del Embarazo/inmunología , Complicaciones Infecciosas del Embarazo/microbiología , Infecciones Estreptocócicas/inmunología , Infecciones Estreptocócicas/microbiología , Streptococcus agalactiae/genética , Anciano , Anciano de 80 o más Años , Citocinas/genética , Femenino , Genotipo , Humanos , Recién Nacido , Monocitos/inmunología , Monocitos/metabolismo , Monocitos/microbiología , Embarazo , Complicaciones Infecciosas del Embarazo/genética , Sepsis/microbiología , Análisis de Secuencia de ADN , Serotipificación , Especificidad de la Especie , Infecciones Estreptocócicas/genética , Streptococcus agalactiae/clasificación , Streptococcus agalactiae/aislamiento & purificación , Streptococcus agalactiae/patogenicidad , Virulencia/genética , Virulencia/inmunologíaRESUMEN
For about 10 000 years, farmers have been managing cattle, sheep, and goats in a sustainable way, leading to animals that are well adapted to the local conditions. About 200 years ago, the situation started to change dramatically, with the rise of the concept of breed. All animals from the same breed began to be selected for the same phenotypic characteristics, and reproduction among breeds was seriously reduced. This corresponded to a strong fragmentation of the initial populations. A few decades ago, the selection pressures were increased again in order to further improve productivity, without enough emphasis on the preservation of the overall genetic diversity. The efficiency of modern selection methods successfully increased the production, but with a dramatic loss of genetic variability. Many industrial breeds now suffer from inbreeding, with effective population sizes falling below 50. With the development of these industrial breeds came economic pressure on farmers to abandon their traditional breeds, and many of these have recently become extinct as a result. This means that genetic resources in cattle, sheep, and goats are highly endangered, particularly in developed countries. It is therefore important to take measures that promote a sustainable management of these genetic resources; first, by in situ preservation of endangered breeds; second, by using selection programmes to restore the genetic diversity of industrial breeds; and finally, by protecting the wild relatives that might provide useful genetic resources.