Estimación de las relaciones genéticas entre razas caprinas españolas y criollas utilizando microsatélites

We have analyzed three Creole goat populations from Peru, Mexico and Chile using microsatellite markers. We have also analyzed the genetic relationship between them and Murciano-Granadina and Malagueña Spanish goat breeds. The average number of alleles per locus was similar in all populations (7.3) except the Chilean Creole (5.1). This Creole goat population has presented the lowest value of observed (Ho) (0.53) and expected (He) heterozygosis (0.59). The Peruvian Creole has presented the highest values of Ho (0.70) and He (0.71). We have found a scarce level of genetic differentiation between goat populations (FST= 0.069) being more important the individual genetic differences due to crossbreed with several breeds. The Peruvian Creole was closed to analyzed Spanish breeds, followed by Mexican Creole. Finally the Chilean Creole was the most distant to the others populations

Estimation of genetic relationships between Spanish and Creole goat breeds using microsatellite

Ponencia publicada en ITEA, vol.104Se han analizado genéticamente tres poblaciones caprinas Criollas de Perú, México y Chile utilizando marcadores de ADN de tipo microsatélite y se han comparado con las razas españolas Murciano Granadina y Malagueña. Se ha encontrado un número medio de alelos por locus similar en todas las poblaciones (7,3) excepto la población Criolla Chilena que ha mostrado un valor de 5,1, siendo ésta la que ha presentado el valor inferior tanto de heterocigosidad observada (Ho) (0,53) como de esperada (He) (0,59), habiendo sido la Criolla Peruana la que ha presentado los mayores valores (0,70 y 0,71 respectivamente). Se ha encontrado un escaso nivel de diferenciación genética entre las poblaciones (FST = 0,069) siendo las diferencias encontradas debidas a los individuos como consecuencia al cruzamiento indiscriminado con otras razas. La población caprina Criolla de Perú es la que más se aproxima gené- ticamente a las 2 razas españolas analizadas, seguida de la Criolla Mexicana, por último la población criolla Chilena es la que presenta la mayor lejanía genética con el resto de poblaciones estudiadas.We have analyzed three Creole goat populations from Peru, Mexico and Chile using microsatellite markers. We have also analyzed the genetic relationship between them and Murciano-Granadina and Malagueña Spanish goat breeds. The average number of alleles per locus was similar in all populations (7.3) except the Chilean Creole (5.1). This Creole goat population has presented the lowest value of observed (Ho) (0.53) and expected (He) heterozygosis (0.59). The Peruvian Creole has presented the highest values of Ho (0.70) and He (0.71). We have found a scarce level of genetic differentiation between goat populations (FST= 0.069) being more important the individual genetic differences due to crossbreed with several breeds. The Peruvian Creole was closed to analyzed Spanish breeds, followed by Mexican Creole. Finally the Chilean Creole was the most distant to the others populations

Transmission ratio distortion detection by neutral genetic markers in the Pura Raza Española horse breed

Transmission Ratio Distortion (TRD) is a genetic phenomenon widely demonstrated in several livestock species, but barely in equine species. The TRD occurs when certain genotypes are over- or under-represented in the offspring of a particular mating and can be caused by a variety of factors during gamete formation or during embryonic development. For this study, 126 394 trios consisting of a stallion, mare, and offspring were genotyped using a panel of 17 neutral microsatellite markers recommended by the International Society for Animal Genetics for paternity tests and individual identification. The number of alleles available for each marker ranges from 13 to 18, been 268 the total number of alleles investigated. The TRDscan v.2.0 software was used with the biallelic procedure to identify regions with distorted segregation ratios. After completing the analysis, a total of 12 alleles (out of 11 microsatellites) were identified with decisive evidence for genotypic TRD; 3 and 9 with additive and heterosis patterns, respectively. In addition, 19 alleles (out of 10 microsatellites) were identified displaying allelic TRD. Among them, 14 and 5 were parent-unspecific and stallion-mare-specific TRD. Out of the TRD regions, 24 genes were identified and annotated, predominantly associated with cholesterol metabolism and homeostasis. These genes are often linked to non-specific symptoms like impaired fertility, stunted growth, and compromised overall health. The results suggest a significant impact on the inheritance of certain genetic traits in horses. Further analysis and validation are needed to better understand the TRD impact before the potential implementation in the horse breeding programme strategies.</p

Structure and genetic relationships between serrana de Teruel breed and other cattle breeds reared in Spain

In this work we analyze by microsatellite markers the genetic diversity, structure and relationships of the indigenous endangered Serrana de Teruel cattle breed with different breeds reared in Spain. All loci were polymorphic and a total of 198 alleles were observed across loci, with a mean of 6.79. Observed and expected heterozygosities values shown the high variability of Serrana de Teruel breed with values of 0.67 and 0.68 respectively. The neighbour net based on Reynolds distances shown the close genetic relationship among Serrana de Teruel and the mountain Parda de Montaña and Pirenaica breeds. STRUCTURE results showed a 47.5% of correctly assigned individuals to Serrana de Teruel breed using a q>0.8 threshold. The admixed animals shown a clear influence of Parda de Montaña breed.En este trabajo se analiza la variabilidad genética de la raza autóctona en peligro de extinción Serrana de Teruel, así como su relación con las ra-zas bovinas explotadas en España: Albera, Pajuna, Avileña-Negra Ibérica, Serrana Negra, Pirenaica y Parda de Montaña. La caracterización genética se ha realizado mediante marcadores microsatélites, todos han resultado polimórficos detectándose un total de 198 alelos con una media de 6,79 alelos por locus. Las heterocigosidades observadas y esperadas fueron altas y similares en el equilibrio, con valores de 0,67 y 0,68 respectivamente. A partir del estudio de las relaciones filogenéticas se ha podido observar la cercanía de la raza Serrana de Teruel con las razas de montaña Pirenaica y Parda de Montaña. Mediante el estudio de la estructura genética se observó que el porcentaje de animales correctamente asignados a la Serrana de Teruel para q>0,8 fue del 47,5%, apreciándose una clara influencia de la raza Parda de Montaña en los individuos mezclados

Increased brain age in adults with Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is the most common genetic obesity syndrome, with associated learning difficulties, neuroendocrine deficits, and behavioural and psychiatric problems. As the life expectancy of individuals with PWS increases, there is concern that alterations in brain structure associated with the syndrome, as a direct result of absent expression of PWS genes, and its metabolic complications and hormonal deficits, might cause early onset of physiological and brain aging. In this study, a machine learning approach was used to predict brain age based on grey matter (GM) and white matter (WM) maps derived from structural neuroimaging data using T1-weighted magnetic resonance imaging (MRI) scans. Brain-predicted age difference (brain-PAD) scores, calculated as the difference between chronological age and brain-predicted age, are designed to reflect deviations from healthy brain aging, with higher brain-PAD scores indicating premature aging. Two separate adult cohorts underwent brain-predicted age calculation. The main cohort consisted of adults with PWS (n = 20; age mean 23.1 years, range 19.8-27.7; 70.0% male; body mass index (BMI) mean 30.1 kg/m2, 21.5-47.7; n = 19 paternal chromosome 15q11-13 deletion) and age- and sex-matched controls (n = 40; age 22.9 years, 19.6-29.0; 65.0% male; BMI 24.1 kg/m2, 19.2-34.2) adults (BMI PWS vs. control P = .002). Brain-PAD was significantly greater in PWS than controls (effect size mean ± SEM +7.24 ± 2.20 years [95% CI 2.83, 11.63], P = .002). Brain-PAD remained significantly greater in PWS than controls when restricting analysis to a sub-cohort matched for BMI consisting of n = 15 with PWS with BMI range 21.5-33.7 kg/m2, and n = 29 controls with BMI 21.7-34.2 kg/m2 (effect size +5.51 ± 2.56 years [95% CI 3.44, 10.38], P = .037). In the PWS group, brain-PAD scores were not associated with intelligence quotient (IQ), use of hormonal and psychotropic medications, nor severity of repetitive or disruptive behaviours. A 24.5 year old man (BMI 36.9 kg/m2) with PWS from a SNORD116 microdeletion also had increased brain PAD of 12.87 years, compared to 0.84 ± 6.52 years in a second control adult cohort (n = 95; age mean 34.0 years, range 19.9-55.5; 38.9% male; BMI 28.7 kg/m2, 19.1-43.1). This increase in brain-PAD in adults with PWS indicates abnormal brain structure that may reflect premature brain aging or abnormal brain development. The similar finding in a rare patient with a SNORD116 microdeletion implicates a potential causative role for this PWS region gene cluster in the structural brain abnormalities associated primarily with the syndrome and/or its complications. Further longitudinal neuroimaging studies are needed to clarify the natural history of this increase in brain age in PWS, its relationship with obesity, and whether similar findings are seen in those with PWS from maternal uniparental disomy

La estructura sísmica de la corteza de la Zona de Ossa Morena y su interpretación geológica

El experimento de sísmica de reflexión profunda IBERSEIS ha proporcionado una imagen de la corteza del Orógeno Varisco en el sudoeste de Iberia. Este artículo se centra en la descripción de la corteza de la Zona de Ossa Morena (OMZ), que está claramente dividida en una corteza superior, con reflectividad de buzamiento al NE, y una corteza inferior de pobre reflectividad. Las estructuras geológicas cartografiadas en superficie se correlacionan bien con la reflectividad de la corteza superior, y en la imagen sísmica se ven enraizar en la corteza media. Ésta está constituida por un cuerpo muy reflectivo, interpretado como una gran intrusión de rocas básicas. La imagen de las suturas que limitan la OMZ muestra el carácter fuertemente transpresivo de la colisión orogénica varisca registrada en el sudoeste de Iberia. La Moho actual es plana y, en consecuencia, no se observa la raíz del orógeno

True 99th centile of high sensitivity cardiac troponin for hospital patients: prospective, observational cohort study?

OBJECTIVE To determine the distribution, and specifically the true 99th centile, of high sensitivity cardiac troponin I (hs-cTnI) for a whole hospital population by applying the hs-cTnI assay currently used routinely at a large teaching hospital. DESIGN Prospective, observational cohort study. SETTING University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom, between 29 June 2017 and 24 August 2017. PARTICIPANTS 20000 consecutive inpatients and outpatients undergoing blood tests for any clinical reason. Hs-cTnI concentrations were measured in all study participants and nested for analysis except when the supervising doctor had requested hs-cTnI for clinical reasons. MAIN OUTCOME MEASURES Distribution of hs-cTnI concentrations of all study participants and specifically the 99th centile. RESULTS The 99th centile of hs-cTnI for the whole population was 296 ng/L compared with the manufacturer’s quoted level of 40 ng/L (currently used clinically as the upper limit of normal; ULN). Hs-cTnI concentrations were greater than 40 ng/L in one in 20 (5.4%, n=1080) of the total population. After excluding participants diagnosed as having acute myocardial infarction (n=122) and those in whom hs-cTnI was requested for clinical reasons (n=1707), the 99th centile was 189 ng/L for the remainder (n=18171). The 99th centile was 563 ng/L for inpatients (n=4759) and 65 ng/L for outpatients (n=9280). Patients from the emergency department (n=3706) had a 99th centile of 215 ng/L, with 6.07% (n=225) greater than the recommended ULN. 39.02% (n=48) of all patients from the critical care units (n=123) and 14.16% (n=67) of all medical inpatients had an hs-cTnI concentration greater than the recommended ULN. CONCLUSIONS Of 20000 consecutive patients undergoing a blood test for any clinical reason at our hospital, one in 20 had an hs-cTnI greater than the recommended ULN. These data highlight the need for clinical staff to interpret hs-cTnI concentrations carefully, particularly when applying the recommended ULN to diagnose acute myocardial infarction, in order to avoid misdiagnosis in the absence of an appropriate clinical presentation. TRIAL REGISTRATION Clinicaltrials.gov NCT0304778

European Plate Observing System - Nodo Español de EPOS

EPOS (European Plate Observing System) (https://www.epos-ip.org/) se constituye actualmente como la u¿nica infraestructura europea de Investigacio¿n multidisciplinar y global en Ciencias de la Tierra. EPOS es un portal u¿nico a trave¿s del cua¿l se integran una gran variedad de observaciones sobre el planeta Tierra, lo cual lo hace indispensable para hacer frente a desafi¿os como el uso sostenible del subsuelo o la monitorizacio¿n de peligros naturales. EPOS contempla, no solo el acceso a datos brutos, tambie¿n a aquellos productos resultado del procesado de datos, servicios, software y acceso a instalaciones. EPOSEspan¿a busca, entre otras acciones: (i) implementar y/o consolidar los nodos espan¿oles de los 10 servicios tema¿ticos; (ii) Fortalecer las relaciones con otras organizaciones y programas internacionales; (iii) Actuar como altavoz y punto de informacio¿n de las acciones e iniciativas que se esta¿n llevando a nivel europeo; (iv) Promover el uso de EPOS en programas e iniciativas de investigacio¿n y formacio¿n nacionales e internacionales; y (v) Potenciar la base de servicios digitales de las instituciones nacionales que contribuyen a EPOS. EPOS-Espan¿a persigue fortalecer el papel e importancia de Espan¿a, y sus grupos de investigacio¿n participantes, en el desarrollo e implementacio¿n de EPOS