Polymorphism of the goat agouti signaling protein gene and its relationship with coat color in Italian and Spanish breeds

Agouti signaling protein (ASIP) is one of the key players in the modulation of hair pigmentation in mammals. Binding to the melanocortin 1 receptor, ASIP induces the synthesis of phaeomelanin, associated with reddish brown, red, tan, and yellow coats. We have sequenced 2.8 kb of the goat ASIP gene in 48 individuals and identified two missense (Cys126Gly and Val128Gly) and two intronic polymorphisms. In silico analysis revealed that the Cys126Gly substitution may cause a structural change by disrupting a highly conserved disulfide bond. We studied its segregation in 12 Spanish and Italian goat breeds (N = 360) with different pigmentation patterns and found striking differences in the frequency of the putative loss-of-function Gly126 allele (Italian 0.43, Spanish Peninsular 0.08), but we did not observe a clear association with coat color. This suggests that the frequency of this putative loss-of-function allele has evolved under the influence of demographic rather than selection factors in goats from these two geographical areas.This research was partially funded by a grant (RZ2007-00005-C02-01) from the Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (Spain).Peer reviewe

Technical note: Advantages and limitations of authenticating Palmera goat dairy products by pyrosequencing the melanocortin 1 receptor (MC1R) gene

Open Archive in partnership with American Dairy Science Association (ADSA).Inferring the breed of origin of dairy products can be achieved through molecular analysis of genetic markers with a population-specific pattern of segregation. The goal of the current work was to generate such markers in goats by resequencing several pigmentation genes [melanocortin 1 receptor (MC1R), v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), tyrosinase (TYR), and tyrosinase-related protein 2 (TYRP2)]. This experiment revealed 10 single nucleotide polymorphisms (SNP), including 5 missense mutations and 1 nonsense mutation. These markers were genotyped in 560 goats from 18 breeds originally from Italy, the Iberian Peninsula, the Canary Islands, and North Africa. Although the majority of SNP segregated at moderate frequencies in all populations (including 2 additional markers that were used as a source of information), we identified a c.764G>A SNP in MC1R that displayed highly divergent allelic frequencies in the Palmera breed compared with the Majorera and Tinerfeña breeds from the Canary Islands. Thus, we optimized a pyrosequencing-based technique that allowed us to estimate, very accurately, the allele frequencies of this marker in complex DNA mixtures from different individuals. Once validated, we applied this method to generating breed-specific DNA profiles that made it possible to detect fraudulent cheeses in which Palmero cheese was manufactured with milk from Majorera goats. One limitation of this approach, however, is that it cannot be used to detect illegal manufacturing where Palmero dairy products are produced by mixing milk from Palmera and Majorera goats, because the c.764G>A SNP segregates in both breeds.This research was partially funded by a grant (RZ2007-00005-C02-01) from the Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (Spain).Peer reviewe

Detecting the existence of gene flow between Spanish and North African goats through a coalescent approach

Human-driven migrations are one of the main processes shaping the genetic diversity and population structure of domestic species. However, their magnitude and direction have been rarely analysed in a statistical framework. We aimed to estimate the impact of migration on the population structure of Spanish and African goats. To achieve this goal, we analysed a dataset of 1,472 individuals typed with 23 microsatellites. Population structure of African and Spanish goats was moderate (mean FST=0.07), with the exception of the Canarian and South African breeds that displayed a significant differentiation when compared to goats from North Africa and Nigeria. Measurement of gene flow with Migrate-n and IMa coalescent genealogy samplers supported the existence of a bidirectional gene flow between African and Spanish goats. Moreover, IMa estimates of the effective number of migrants were remarkably lower than those calculated with Migrate-n and classical approaches. Such discrepancies suggest that recent divergence, rather than extensive gene flow, is the main cause of the weak population structure observed in caprine breeds.

The evolution of the ventilatory ratio is a prognostic factor in mechanically ventilated COVID-19 ARDS patients

Background: Mortality due to COVID-19 is high, especially in patients requiring mechanical ventilation. The purpose of the study is to investigate associations between mortality and variables measured during the first three days of mechanical ventilation in patients with COVID-19 intubated at ICU admission. Methods: Multicenter, observational, cohort study includes consecutive patients with COVID-19 admitted to 44 Spanish ICUs between February 25 and July 31, 2020, who required intubation at ICU admission and mechanical ventilation for more than three days. We collected demographic and clinical data prior to admission; information about clinical evolution at days 1 and 3 of mechanical ventilation; and outcomes. Results: Of the 2,095 patients with COVID-19 admitted to the ICU, 1,118 (53.3%) were intubated at day 1 and remained under mechanical ventilation at day three. From days 1 to 3, PaO2/FiO2 increased from 115.6 [80.0-171.2] to 180.0 [135.4-227.9] mmHg and the ventilatory ratio from 1.73 [1.33-2.25] to 1.96 [1.61-2.40]. In-hospital mortality was 38.7%. A higher increase between ICU admission and day 3 in the ventilatory ratio (OR 1.04 [CI 1.01-1.07], p = 0.030) and creatinine levels (OR 1.05 [CI 1.01-1.09], p = 0.005) and a lower increase in platelet counts (OR 0.96 [CI 0.93-1.00], p = 0.037) were independently associated with a higher risk of death. No association between mortality and the PaO2/FiO2 variation was observed (OR 0.99 [CI 0.95 to 1.02], p = 0.47). Conclusions: Higher ventilatory ratio and its increase at day 3 is associated with mortality in patients with COVID-19 receiving mechanical ventilation at ICU admission. No association was found in the PaO2/FiO2 variation

Early mobilisation in critically ill COVID-19 patients: a subanalysis of the ESICM-initiated UNITE-COVID observational study

Background Early mobilisation (EM) is an intervention that may improve the outcome of critically ill patients. There is limited data on EM in COVID-19 patients and its use during the first pandemic wave. Methods This is a pre-planned subanalysis of the ESICM UNITE-COVID, an international multicenter observational study involving critically ill COVID-19 patients in the ICU between February 15th and May 15th, 2020. We analysed variables associated with the initiation of EM (within 72 h of ICU admission) and explored the impact of EM on mortality, ICU and hospital length of stay, as well as discharge location. Statistical analyses were done using (generalised) linear mixed-effect models and ANOVAs. Results Mobilisation data from 4190 patients from 280 ICUs in 45 countries were analysed. 1114 (26.6%) of these patients received mobilisation within 72 h after ICU admission; 3076 (73.4%) did not. In our analysis of factors associated with EM, mechanical ventilation at admission (OR 0.29; 95% CI 0.25, 0.35; p = 0.001), higher age (OR 0.99; 95% CI 0.98, 1.00; p ≤ 0.001), pre-existing asthma (OR 0.84; 95% CI 0.73, 0.98; p = 0.028), and pre-existing kidney disease (OR 0.84; 95% CI 0.71, 0.99; p = 0.036) were negatively associated with the initiation of EM. EM was associated with a higher chance of being discharged home (OR 1.31; 95% CI 1.08, 1.58; p = 0.007) but was not associated with length of stay in ICU (adj. difference 0.91 days; 95% CI − 0.47, 1.37, p = 0.34) and hospital (adj. difference 1.4 days; 95% CI − 0.62, 2.35, p = 0.24) or mortality (OR 0.88; 95% CI 0.7, 1.09, p = 0.24) when adjusted for covariates. Conclusions Our findings demonstrate that a quarter of COVID-19 patients received EM. There was no association found between EM in COVID-19 patients' ICU and hospital length of stay or mortality. However, EM in COVID-19 patients was associated with increased odds of being discharged home rather than to a care facility. Trial registration ClinicalTrials.gov: NCT04836065 (retrospectively registered April 8th 2021)

Seguint la pista de les llúdrigues

De les 13 espècies de llúdrigues actualment existents, la llúdriga euroasiàtica (Lutra lutra L., 1758) o llúdriga de riu europea és la més estesa a tot el món. El seu rang de distribució s'estén des d'Irlanda fins al Japó i des de l'Àrtic fins al nord d'Àfrica

Conservation of goat populations from southwestern Europe based on molecular diversity criteria

Chapter 29: et al.Goat farming plays a key role in agricultural activity and in maintaining forest lands in Southwestern Europe. Remarkably, the Iberian Peninsula represents nearly 25% of the European goat census. Goat husbandry is often associated with low input production systems and uses selective breeding programs, which are less advanced than those employed in other livestock. Native goat breeds are very well adapted to produce in marginal areas under extensive conditions. Loss of their genetic diversity could have important economic, ecological and scientific implications as well as social consequences. Several methodologies have been developed to preserve the genetic diversity of single populations, but additional problems arise when a group of breeds, i.e., subpopulations, is considered in conservation programs. The conservation priority of a breed depends on its contribution to the overall genetic diversity of the species, in terms of the intrinsic genetic variation that it harbors and also of its relationship with other breeds. However, the estimation of the contributions of each of these two components to overall genetic diversity cannot be easily assessed. Besides, conservation goals in the short-term (avoidance of inbreeding) and long-term (adaptation to future environmental changes) should be considered when taking conservative decisions. A comprehensive analysis of Iberian goat breeds has been carried out to evaluate conservation priorities based on methodologies that account for within- or between-breed genetic diversity, or combinations of both. Based on genetic distinctiveness, breeds such as Palmera, Formentera, and Blanca Celtibérica were prioritized, whereas the maximum priority was assigned to Florida, Pirenaica, Retinta, and Moncaína breeds when focusing on within-breed diversity. Overall, combined approaches showed very little variation among breeds reflecting a history of extensive gene flow, partly due to transhumance and recent divergence. The main conclusion of our study is that these statistical analyses are useful, but conservation decisions must take into account other factors in addition to strict genetic diversity classification.This study has been partially supported by the Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA) RZ2004-00037-00-00, RZ2006-00005-C02-00, RZ2007-00005-C02-01 and RZ2007-00005-C02-02 projects. CG was supported by a contract grant from the Fundação para a Ciência e a Tecnologia (project ARADO, IF/00866/2014), Portugal.Peer reviewe

Genetic relationships between six eastern Pyrenean sheep breeds assessed using microsatellites

The knowledge of the genetic composition and relationships among livestock breeds is a necessary step for the implementation of management and conservation plans. This study aims to characterise the genetic diversity and relationships among six sheep breeds of meat aptitude that are spread through the eastern Pyrenees: Tarasconnaise, Castillonnaise and Rouge du Roussillon from France, and Aranesa, Xisqueta and Ripollesa from Spain. All but Tarasconnaise are catalogued as endangered. These breeds do not share the same ancestral origin but commercial trades and gene flow between herds are known to have occurred for centuries. Additionally, two outgroup breeds were included: the Guirra, from a different geographical location, and the Lacaune, a highly selected breed of dairy aptitude. A total of 410 individuals were typed using a panel of 12 microsatellite markers. Statistical, phylogenetic and Bayesian analyses showed that eastern Pyrenean breeds retained high levels of genetic diversity and low, but significant, levels of genetic differentiation (FST = 4.1%). While outgroups were clearly differentiated from other breeds, Pyrenean breeds tended to form two clusters. The first encompassed Tarasconnaise and Aranesa, which probably descend from a common meta-population. The second tended to group the other four breeds. However, none reached high mean Q-values of membership to a discrete cluster. This is consistent with the recent past gene flow between breeds, despite different ancestral genetic origins. The genetic characterisation carried out of the eastern Pyrenean sheep populations provides useful information to support decision making on their conservation and focusing efforts and resources to more singular breeds

Genetic diversity and landscape genetic structure of otter (Lutra lutra) populations in Europe

Eurasian otter populations strongly declined and partially disappeared due to global and local causes (habitat destruction, water pollution, human persecution) in parts of their continental range. Conservation strategies, based on reintroduction projects or restoration of dispersal corridors, should rely on sound knowledge of the historical or recent consequences of population genetic structuring. Here we present the results of a survey performed on 616 samples, collected from 19 European countries, geno- typed at the mtDNA control-region and 11 autosomal microsatellites. The mtDNA variability was low (nucleo- tide diversity = 0.0014; average number of pairwise dif- ferences = 2.25), suggesting that extant otter mtDNA lineages originated recently. A star-shaped mtDNA net- work did not allow outlining any phylogeographic infer- ence. Microsatellites were only moderately variable (Ho = 0.50; He = 0.58, on average across populations), the average allele number was low (observed Ao = 4.9, range 2.5–6.8; effective Ae = 2.8; range 1.6–3.7), sug- gesting small historical effective population sizeotters likely originated from the expansion of a single refugial population. Bayesian clustering and landscape genetic analyses however indicate that local populations are genetically differentiated, perhaps as consequence of post-glacial demographic fluctuations and recent isolation. These results delineate a framework that should be used for implementing conservation programs in Europe, particu- larly if they are based on the reintroduction of wild or captive-reproduced otters.Peer reviewe