Looking for adaptive footprints in the HSP90AA1 ovine gene

BackgroundClimatic factors play an important role in determining species distributions and phenotypic variation of populations over geographic space. Since domestic sheep is managed under low intensive systems animals could have retained some genome adaptive footprints. The gene encoding the Hsp90? has been extensively studied in sheep and some polymorphisms located at its promoter have been associates with differences in the transcription rate of the gene depending on climatic conditions. In this work the relationships among the distribution and frequencies of 11 polymorphisms of the ovine HSP90AA1 gene promoter in 31 sheep breeds and the climatic and geographic variables prevailing in their regions of origin have been studied. Also the promoter sequence has been characterized in 9 species of the Caprinae subfamily. ResultsCorrelations among several climatic variables and allele frequencies of the polymorphisms of the HSP90AA1 gene promoter linked with differences in the transcription activity of the gene under heat stress conditions have been assessed. A group of breeds reared in semi dry climates have high frequencies of the insertion allele of the g.667-668insC associated with the heat stress response. Other group of breeds native to semi arid conditions showed very low frequencies of this same allele. However, in some cases, this previous correlation has not been achieved, revealing the high levels of gene flow among populations occurred following domestication. The Bayesian Test of Beaumont and Balding identified two outlier loci, the g.522A?>?G and g.703_704del(2)A candidates to balancing and directional selection, respectively. Polymorphisms detected in O. aries are also present in several species of the Caprinae subfamily being C. hircus, O. musimon and O. moschatus those sharing the highest number of them with O. aries.ConclusionsDespite domestication, sheep breeds showed some genetic footprints related to climatic variables. Adaptation of breeds to heat climates can suppose a selective advantage to cope with global warming caused by climatic change. Polymorphisms of the HSP90AA1 gene detected in the Ovis aries species are also present in wild species from the Caprinae subfamily, indicating a great antiquity of these mutations and its importance in the adaptation of species to past climatic conditions existing in its native environments.Publishe

Estudio de asociación con caracteres de calidad de carne y marcadores SNP en regiones relacionadas con genes diferencialmente expresador en dos músculos en la raza bovina avileña-negra ibérica

In order to identify regions of the genome associated with some meat quality traits in the Avileña Negra-Ibérica (ANI) breed in two muscles, the genomic regions cointainig the 205 genes differentially expressed (DE) between Psoas major y Flexor digitorum in this breed were taken into account. Genotypes of 397 ANI calves with the Illumina Bovine 50K SNP platform were available. Markers with a call rate bellow 98% or fixed were excluded from the analysis. A total of 3110 markers were within the DE genes (104) or within the flanking regions of the same genes. The traits included in the analysis were two sensory traits (flavor and tenderness) and two laboratory measurements (intramuscular fat and instrumental tenderness). The software used for the analysis was QXPak 5.0. Twenty markers were found to be associated with intramuscular fat (12), tenderness (5) and instrumental texture (3). None of the markers were associated to more than one character and in both muscles to the same trait. Twenty two genes were flanked by this markers and one of the markers was contained in one of the DE geneCon el objetivo de identificar regiones del genoma asociadas a algunos caracteres de calidad de carne en la raza Avileña Negra-Ibérica (ANI) en dos músculos, se han tenido en cuenta la posición en el genoma de 205 genes diferencialmente expresados (DE) entre el Psoas major y Flexor digitorum en esta misma raza. Se dispuso de genotipos de 397 terneros de raza Avileña-Negra Ibérica obtenidos con la plataforma Illumina Bovine SNP50. Los marcadores con un “call rate” menor del 98% o fijados fueron excluidos del análisis. Los caracteres incorporados en el análisis fueron dos caracteres organolépticos (Flavor y Terneza) y dos caracteres laboratoriales (Grasa intramuscular y Terneza instrumental). Para el análisis de asociación se utilizó un total de 3110 marcadores que bien estaban contenidos en los genes DE (104 marcadores) o en las zonas flanqueantes a dichos genes en una ventana de 500kb. El análisis estadístico se realizó con QXPak 5.0. Se encontraron en total veinte marcadores asociados a las características estudiadas, de los cuales 12 se asociaron a grasa intramuscular , cinco a terneza organoléptica y tres a terneza instrumental. Estos marcadores corresponden a 23 genes DE distribuidos en las zonas flanqueantes (22) y contenidos dentro de genes DE (1). No se encontraron marcadores asociados a flavor. Tampoco se encontraron coincidencias de marcadores entre los caracteres ni entre músculos

A SNP in the HSP90AA1 gene 5′ flanking region is associated with the adaptation to differential thermal conditions in the ovine species

Molecular chaperones have long been understood to be preferentially transcribed in response to multiple perturbations of the cellular homeostasis. In this study, several polymorphisms in the gene encoding the inducible form of the cytoplasmic Hsp90 (HSP90AA1) were addressed in 24 sheep breeds reared in different climatic regions of Europe, Africa, and Asia. Significant differences in the genotype frequencies for a C/G single nucleotide polymorphism (SNP) located at position −660 in the HSP90AA1 5′flanking region were found between the different breeds. Regression analyses reflected significant correlations (from 0.41 to 0.62) between the alternative genotypes of this polymorphism and several climatic and geographic variables characteristic of the regions where these breeds are reared. Real-time analysis revealed that animals bearing the CC−660 genotype presented higher expression levels than those presenting the CG−660 or GG−660 in summer, but not in spring. Mutation at −660 site seems to affect HSP90AA1 transcription rates which could have important effects on the adaptation to different environmental conditions in sheep. Thus, the variability found in the genotype frequencies for the SNP at −660 in the ovine HSP90AA1 locus could be the result of the different environmental pressures occurring in the regions where these breed are maintained.AGRAMA breeders association, CSIC-León (Spain), CITA-Aragón (Spain), Centro Nacional de Referencia de EETs (Spain), Universidad de Zaragoza (Spain), NEIKER-Vitoria (Spain), Centro de Investigación La Orden-Valdesequera Junta de Extremadura (Spain), Dr. Julián Garde from the Universidad de Castilla-La Mancha (Spain), INIA-Madrid (Spain), and Dr Maziek Murawski from the University of Cracow (Poland) have provided biological samples. We are also very grateful to Dr. Jaime Cubero from INIA for his logistic support and to Helen Neumann for the English corrections. RTA2006-00104-00-00 and RZ2004-28 INIA projects have provided refunding to develop the experimental work

Ethics Committee experience during COVID-19 emergency. A brief report

La crisis sanitaria motivada por el COVID-19 hace necesaria la puesta en marcha, con celeridad, de investigaciones encaminadas a generar evidencias científicas que incidan en el control de sus devastadores efectos. Por ello, fue necesario realizar ajustes en la dinámica de trabajo de los Comités de Ética de la Investigación así como priorizar y agilizar la evaluación de los proyectos relacionados con dicha enfermedad. Este trabajo pretende analizar la actividad la actividad evaluadora del Comité de Ética de la Investigación con Medicamentos de Galicia (CEIm-G) durante dicho período de emergencia sanitaria. Se evaluaron 81 proyectos de investigación, 73 de ellos de ámbito autonómico (62 unicéntricos), 4 nacionales y 4 internacionales. En 57 proyectos el dictamen fue favorable, 4 fueron retirados por los promotores, en 6 no procedía dictamen y 14 no respondieron a las aclaraciones solicitadas hasta la fecha del cierre del estudio. La causas más frecuentes de solicitud de aclaraciones estaban relacionadas con la metodología y a continuación con la hoja de información al paciente y el consentimiento informado. También es imprescindible abordar los aspectos relacionados con la intimidad de los datos personales y las muestras y tener en cuenta la carga de trabajo de los investigadores. Como propuesta de mejora, consideramos que se debe incidir en una mayor coordinación entre los diferentes equipos de investigación para tratar de obtener resultados más robustos

Experiencia de un comité de ética de la investigación durante la pandemia por COVID-19

Background: The health crisis caused by COVID-19 required the prompt launch of research in order to generate scientific evidence pertaining to the new disease oriented to control its devastating effects and continuous spread. Therefore, it was essential to adapt the work flow of Research Ethics Committees, to prioritize and to accelerate the evaluation of projects related to this disease. Methods: This work analyses the evaluation conducted by our Regional Ethics Committees during the initial period of the health emergency (between 13th March and 28th May 2020). Results: 81 research projects were evaluated, 73 of them of regional scope (62 single-centre), 4 national and 4 international. 57 projects obtained a favourable opinion, 4 were withdrawn by the sponsors, 6 did not require ethics approval and 14 did not respond to the clarifications requested up to the date of the study’s closure. Conclusions: The most important research procedures to be analysed in this context are those related to the methodology and informed consent process. It is also essential to address aspects related to the privacy of personal data, and to take into account the workload of the researchers. As an improvement proposal, we think that greater collaboration between the different research teams should be encourage to obtain more robust results.Fundamentos: La crisis sanitaria motivada por la COVID-19 hace necesaria la puesta en marcha, con celeridad, de investigaciones encaminadas a generar evidencias científicas que incidan en el control de sus devastadores efectos. Por ello, fue necesario realizar ajustes en la dinámica de trabajo de los Comités de Ética de la Investigación, así como priorizar y agilizar la evaluación de los proyectos relacionados con dicha enfermedad. Este trabajo pretendió analizar la actividad la actividad evaluadora del Comité de Ética de la Investigación con Medicamentos de Galicia (CEIm-G) durante dicho período de emergencia sanitaria. Métodos: Se evaluaron 81 proyectos de investigación, 73 de ellos de ámbito autonómico (62 unicéntricos), 4 nacionales y 4 internacionales. Resultados: En 57 proyectos el dictamen fue favorable, 4 fueron retirados por los promotores, en 6 no procedía dictamen y 14 no respondieron a las aclaraciones solicitadas hasta la fecha del cierre del estudio. Conclusiones: Las causas más frecuentes de solicitud de aclaraciones están relacionadas con la metodología y, a continuación, con la hoja de información al paciente y el consentimiento informado. También es imprescindible abordar los aspectos relacionados con la intimidad de los datos personales y las muestras, e igualmente tener en cuenta la carga de trabajo de los investigadores. Como propuesta de mejora, consideramos que se debe incidir en una mayor coordinación entre los diferentes equipos de investigación para tratar de obtener resultados más robustos