Genome-Wide Association Analysis for Stem Cross Section Properties, Height and Heading Date in a Collection of Spanish Durum Wheat Landraces

Durum wheat landraces have a high potential for breeding but they remain underexploited due to several factors, including the insufficient evaluation of these plant materials and the lack of efficient selection tools for transferring target traits into elite backgrounds. In this work, we characterized 150 accessions of the Spanish durum wheat collection for stem cross section, height and heading date. Continuous variation and high heritabilities were recorded for the stem area, pith area, pith diameter, culm wall thickness, height and heading date. The accessions were genotyped with DArTSeq markers, which were aligned to the durum wheat ‘Svevo’ genome. The markers corresponding to genes, with a minor allele frequency above 5% and less than 10% of missing data, were used for genome-wide association scan analysis. Twenty-nine marker-trait associations (MTAs) were identified and compared with the positions of previously known QTLs. MTAs for height and heading date co-localized with the QTLs for these traits. In addition, all the MTAs for stem traits in chromosome 2B were located in the corresponding synteny regions of the markers associated with lodging in bread wheat. Finally, several MTAs for stem traits co-located with the QTL for wheat stem sawfly (WSS) resistance. The results presented herein reveal the same genomic regions in chromosome 2B are involved in the genetic control of stem traits and lodging tolerance in both durum and bread wheat. In addition, these results suggest the importance of stem traits for WSS resistance and the potential of these landraces as donors for lodging tolerance and WSS resistance enhancement. In this context, the MTAs for stem-related traits identified in this work can serve as a reference for further development of markers for the introgression of target traits into elite materialThis research was funded by the Instituto de Investigación y Formación Agraria y Pesquera (IFAPA), Junta de Andalucía, grant number AVA-AVA2019.020 cofounded at 80% by FEDER. C.M.A., J.S. and S.G.A. are members of the FiRCMe Network, funded by Ministerio de Economía, Industria y Competitividad (AGL2016-81855-REDT). M.D.R.-R. was the recipient of a fellowship from the Ministerio de Ciencia, Innovación y Universidades (PRE2018-084037)

Exploitation of nuclear and cytoplasm variability in Hordeum chilense for wheat breeding

Hordeum chilense Roem. et Schultz. is a diploid wild barley native to Chile and Argentina. The high crossability of this species with other members of the Triticeae tribe promoted the development of the new species × Tritordeum Ascherson et Graebner. Hexaploid tritordeum was developed from the hybrid derived from the cross between H. chilense (used as female parent) and durum wheat. The interest of H. chilense is based on the presence of traits potentially useful for wheat breeding, including high endosperm carotenoid content, septoria tritici blotch resistance and abiotic stress tolerance. Besides, the variability at cytoplasm level is also important in this species. The development of common wheat-H. chilense alloplasmic lines (nucleus from wheat and cytoplasm from H. chilense) results in fertile or male sterile genotypes, depending on the accession donating the cytoplasm. Furthermore, these alloplasmic lines constitute an ideal system for deepening our knowledge on nuclear-cytoplasm interactions. In conclusion, H. chilense is an interesting source of variability for wheat breeding. © 2011 NIAB.Our work in this area is supported by grants (to S. G. A.) AGL2008-03720, and P09-AGR-4817 from Spanish Ministry of Science and Innovation, Junta de Andalucía and FEDER. C. R.-S. acknowledges financial support from CSIC (JAE-Doc program).Peer Reviewe

The Mars Environmental Dynamics Analyzer, MEDA: a suite of environmental sensors for the Mars 2020 mission

This is a post-peer-review, pre-copyedit version of an article published in Space science reviews. The final authenticated version is available online at: http://dx.doi.org/10.1007/s11214-021-00816-9NASA’s Mars 2020 (M2020) rover mission includes a suite of sensors to monitor current environmental conditions near the surface of Mars and to constrain bulk aerosol properties from changes in atmospheric radiation at the surface. The Mars Environmental Dynamics Analyzer (MEDA) consists of a set of meteorological sensors including wind sensor, a barometer, a relative humidity sensor, a set of 5 thermocouples to measure atmospheric temperature at ~1.5 m and ~0.5 m above the surface, a set of thermopiles to characterize the thermal IR brightness temperatures of the surface and the lower atmosphere. MEDA adds a radiation and dust sensor to monitor the optical atmospheric properties that can be used to infer bulk aerosol physical properties such as particle size distribution, non-sphericity, and concentration. The MEDA package and its scientific purpose are described in this document as well as how it responded to the calibration tests and how it helps prepare for the human exploration of Mars. A comparison is also presented to previous environmental monitoring payloads landed on Mars on the Viking, Pathfinder, Phoenix, MSL, and InSight spacecraft.Peer ReviewedPostprint (published version

Clinicopathological and Genomic Identification of Breast Cancers with No Impact on Mortality

Background. Implementing mammogram screening means that clinicians are seeing many breast cancers that will never develop metastases. The purpose of this study was to identify subgroups of breast cancer patients who did not present events related to long-term breast cancer mortality, taking into account diagnosis at breast screening, absence of palpability and axillary involvement, and genomic analysis with PAM50. Patients and Methods. To identify them, a retrospective observational study was carried out selecting patients without any palpable tumor and without axillary involvement, and a genomic analysis was performed with PAM50. Results. The probability of distant metastasis-free interval (DMFI) of 337 patients was 0.92 (95% CI, 0.90–0.93) at 20 years and 0.96 (95% CI, 0.92–1.00) in 95 patients (28%) with available PAM50 tests. In 22 (23.15%) luminal A tumors and in 9 (9.47%) luminal B tumors smaller than 1 cm, and in HER2 and basal type tumors, there were no metastatic events (20-year DMFI of 1.00). Conclusion. Patients with nonpalpable breast cancer found at screening with negative nodes are at very low risk. It is possible to identify subgroups without metastatic events by determining the intrinsic subtype and tumor size less than 1 cm. Therefore, de-escalation of treatment should be considered

Allelic Variation, Alternative Splicing and Expression Analysis of Psy1 Gene in Hordeum chilense Roem. et Schult

Background: The wild barley Hordeum chilense Roem. et Schult. is a valuable source of genes for increasing carotenoid content in wheat. Tritordeums, the amphiploids derived from durum or common wheat and H. chilense, systematically show higher values of yellow pigment colour and carotenoid content than durum wheat. Phytoene synthase 1 gene (Psy1) is considered a key step limiting the carotenoid biosynthesis, and the correlation of Psy1 transcripts accumulation and endosperm carotenoid content has been demonstrated in the main grass species. Methodology/Principal findings: We analyze the variability of Psy1 alleles in three lines of H. chilense (H1, H7 and H16) representing the three ecotypes described in this species. Moreover, we analyze Psy1 expression in leaves and in two seed developing stages of H1 and H7, showing mRNA accumulation patterns similar to those of wheat. Finally, we identify thirtysix different transcripts forms originated by alternative splicing of the 59 UTR and/or exons 1 to 5 of Psy1 gene. Transcripts function is tested in a heterologous complementation assay, revealing that from the sixteen different predicted proteins only four types (those of 432, 370, 364 and 271 amino acids), are functional in the bacterial system. Conclusions/Significance: The large number of transcripts originated by alternative splicing of Psy1, and the coexistence of functional and non functional forms, suggest a fine regulation of PSY activity in H. chilense. This work is the first analysis of H. chilense Psy1 gene and the results reported here are the bases for its potential use in carotenoid enhancement in duru

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic. Of the 48 mutated genes, 32 were dominant, 8 recessive and 8 X-linked. Of the patients for whom family studies could be performed and in whom pathogenic variants were identified in dominant or X-linked genes, 82% carried de novo mutations. The involvement of small copy number variations (CNVs) is 9%. The use of progressively updated custom panels with high mean vertical coverage enabled establishment of a definitive diagnosis in a large proportion of cases (42%) and detection of CNVs (even duplications) with high fidelity. In 10.5% of patients we detected associations that are pending confirmation via functional and/or familial studies. Our findings had important consequences for the clinical management of the probands, since a large proportion of the cohort had been clinically misdiagnosed, and their families were subsequently able to avail of genetic counseling. In some cases, a more appropriate treatment was selected for the patient in question, or an inappropriate treatment discontinued. Our findings suggest the existence of modifier genes that may explain the incomplete penetrance of some epilepsy-related genes. We discuss possible reasons for non-diagnosis and future research directions. Further studies will be required to uncover the roles of structural variants, epimutations, and oligogenic inheritance in epilepsy, thereby providing a more complete molecular picture of this disease. In summary, given the broad phenotypic spectrum of most epilepsy-related genes, efficient genomic tools like the targeted exome sequencing panel described here are essential for early diagnosis and treatment, and should be implemented as first-tier diagnostic tools for children with epilepsy without a clear etiologic basis

Análisis de la deformación en la Península Ibérica a partir del estudio de mecanismos focales, implicaciones en la peligrosidad sísmica

Reunión Ibérica sobre Fallas Activas y Paleosismología (3ª. 2018. Alicante). - Texto en inglés con resumen y palabras claves en inglés y españolSe han analizado 682 mecanismos focales de terremotos localizados en la Península Ibérica y zonas próximas. Aplicando métodos de determinación del tensor de deformación (Modelo de Deslizamiento), se han obtenido diferentes resultados para cada uno de los mecanismos focales: (1) plano de falla entre los dos planos nodales del mecanismo, (2) orientación de máximo acortamiento horizontal (ey), (3) factor de forma de tensor de deformación (k’) y (4) tipo de falla. Con estos datos se pueden realizar análisis regionales y locales de las características de la fracturación activa en el área considerada: (a) caracterización de la fracturación, (b) orientación de máximo acortamiento horizontal, (c) zonación en función del tipo de falla y del factor de forma del tensor de deformación. Este tipo de información puede ser muy útil a la hora de realizar tanto diferentes análisis locales de la peligrosidad sísmica, como para incorporar a los catálogos sísmicos terremotos históricos destructivos sin información de la fuente sísmica. = We analysed 682 earthquake focal mechanism solutions located in the Iberian Peninsula and nearby areas. We have obtained different parameters applying methods of determination of the strain tensor (Slip Model): (1) the fault plane between the nodal planes of the focal mechanism, (2) the orientation of the maximum horizontal shortening (ey), (3) the strain shape factor (k`) and (4) the type of fault. With these data, regional and local analysis of active faulting can be carried out in Spain: (a) fracture characterization, (b) the orientation of maximum horizontal shortening, (c) spatial zonation according to the type of fault and (d) the strain shape factor. These results can be useful for seismic hazards studies of local zones and for including destructive historical earthquakes in the seismic catalogs.Departamento de Geología y Geoquímica, Universidad Autónoma de Madrid, EspañaInstituto Geológico y Minero de España, EspañaDepartamento de Geología, Universidad de Salamanca, EspañaDepartamento de Geología, Geografía y Medio Ambiente, Universidad de Alcalá, EspañaDepartamento de Edafología, Universidad Politécnica de Madrid, Españ

Endothelial Progenitor Cells as a Potential Biomarker in Interstitial Lung Disease Associated with Rheumatoid Arthritis

Interstitial lung disease (ILD) increases morbidity and mortality in patients with rheumatoid arthritis (RA). Although the pathogenesis of ILD associated with RA (RA-ILD+) remains poorly defined, vascular tissue is crucial in lung physiology. In this context, endothelial progenitor cells (EPC) are involved in endothelial tissue repair. However, little is known about their implication in RA-ILD+. Accordingly, we aimed to investigate the potential role of EPC related to endothelial damage in RA-ILD+. EPC quantification in peripheral blood from 80 individuals (20 RA-ILD+ patients, 25 RA-ILD? patients, 21 idiopathic pulmonary fibrosis (IPF) patients, and 14 healthy controls) was performed by flow cytometry. EPC were considered as CD34+, CD45low, CD309+ and CD133+. A significant increase in EPC frequency in RA-ILD+ patients, as well as in RA-ILD? and IPF patients, was found when compared with controls (p < 0.001, p = 0.02 and p < 0.001, respectively). RA-ILD+ patients exhibited a higher EPC frequency than the RA-ILD? ones (p = 0.003), but lower than IPF patients (p < 0.001). Our results suggest that EPC increase may represent a reparative compensatory mechanism in patients with RA-ILD+. The degree of EPC frequency may help to identify the presence of ILD in RA patients and to discriminate RA-ILD+ from IPFThis work was partially supported by the European Regional Development Fund (ERDF) and ‘Fondo de Investigación Sanitaria’ [PI18/00043] from Instituto de Salud Carlos III (ISCIII), Health Ministry, Spain. VP-C is supported by a pre-doctoral grant from IDIVAL [PREVAL 18/01]. SR-M is supported by funds of RETICS Program [RD16/0012/0009, ISCIII, co-funded by ERDF]. BA-M is a recipient of a ‘López Albo’ Post-Residency Programme funded by Servicio Cántabro de Salud. LL-G is supported by funds of ISCIII, co-funded by ERDF [PI18/00042]. OG is beneficiary of a grant funded by Xunta de Galicia, Consellería de Educación, Universidade Formación Profesional and Consellería de Economía, Emprego e Industria (GAIN), GPC IN607B2019/10. RL-M is a recipient of a Miguel Servet type I fellowship [ISCIII, co-funded by European Social Fund—ESF, CP16/00033]

Nasal mask for the sleep apnea

[EN] GASMEDI, who supplies home delivered respiratory therapies, has developed in collaboration with Biomechanics Institute of Valencia a new nasal mask for the treatment of the sleep apnea disease. To this end, the person oriented innovation model has been adopted, specially focused on the elderly population. The application of such innovation model has made possible the development of a nasal mask that overcomes the usability and injury drawbacks of current masks. Besides, the nasal mask has been designed in such a way that can be easily used by the aged people.[ES] La empresa GASMEDI, proveedora asal para la apnea del sueño de terapias respiratorias a domicilio, ha desarrollado, en colaboración con el Instituto de Biomecánica (IBV), una nueva mascarilla para el tratamiento de la apnea del sueño. Para su desarrollo se ha seguido el modelo de innovación orientada por las personas, prestando especial atención a las personas de edad avanzada. La aplicación de dicho modelo de innovación perseguía superar los problemas de usabilidad y lesiones que presentan las mascarillas nasales actuales. Asimismo, la mascarilla se ha diseñado de forma que sea fácilmente utilizable por personas mayores.Proyecot desarrollado a través del II Plan de Competitividad de la Empresa Valenciana (PCEV) de IMPIVA, cofinanciado por los fondos FEDER, dentro del Programa Operativo FEDER de la Comunitat Valenciana 2007-2013.Morales Martín, I.; Atienza Vicente, CM.; Villuendas Ros, A.; Carmona Gutiérrez, C.; Vidal Calvo, L.; Nacher Fernandez, B.; Navarro Garcia, FJ.... (2013). Mascarilla nasal para la apnea del sueño. Revista de biomecánica. 59:51-53. http://hdl.handle.net/10251/38678S51535