142 research outputs found

    The role of the X chromosome in infectious diseases

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    Many infectious diseases in humans present with a sex bias. This bias arises from a combination of environmental factors, hormones and genetics. In this study, we review the contribution of the X chromosome to the genetic factor associated with infectious diseases. First, we give an overview of the X-linked genes that have been described in the context of infectious diseases and group them in four main pathways that seem to be dysregulated in infectious diseases: nuclear factor kappa-B, interleukin 2 and interferon γ cascade, toll-like receptors and programmed death ligand 1. Then, we review the infectious disease associations in existing genome-wide association studies (GWAS) from the GWAS Catalog and the Pan-UK Biobank, describing the main associations and their possible implications for the disease. Finally, we highlight the importance of including the X chromosome in GWAS analysis and the importance of sex-specific analysis

    EL ESTUDIO GENÓMICO DEL CACAO (Theobroma cacao L.); BREVE RECOPILACIÓN DE SUS BASES CONCEPTUALES

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    The cacao plant (Theobroma cacao L.) has been cultivated since more than 2,000 years ago by different Mesoamerican cultures. This species represents a significant biocultural resource for the world, due mostly to its importance in the production and commercialization of chocolate. Nowadays, the use and application of genomic tools make relatively possible the characterization of “genotypes” as well as the elucidation of genetic differences between hundreds of individuals at the population level. Current methods of molecular diagnosis, such as microarrangements, massive sequencing of new generation, assemblage and annotation of genomes and genetic expression, help generate data, as well as programming languages and mathematical algorithms that are used in biotechnological processes, whose objective is to improve the understanding and exploitation of the biology of this type of specimens.La planta de cacao (Theobroma cacao L.) ha sido cultivada desde hace más de 2,000 años por distintas culturas Mesoamericanas. Esta especie representa un recurso biocultural significativo para el mundo, debido principalmente a su importancia en la producción y comercialización del chocolate. Hoy en día, el uso y aplicación de herramientas genómicas facilitan relativamente la caracterización de “genotipos” al igual que la dilucidación de diferencias genéticas entre cientos de individuos a nivel poblacional. Métodos actuales de diagnóstico molecular, como microarreglos, secuenciaciones masivas de nueva generación, ensamblado y anotación de genomas y expresión génica, ayudan a la generación de datos, así como lenguajes de programación y algoritmos matemáticos que son utilizados en procesos biotecnológicos, cuya finalidad es mejorar el entendimiento y explotación de la biología de este tipo de especímenes

    Towards finding and understanding the missing heritability of immune-mediated diseases

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    Academic excellence and organisational commitment of teachers at a private school in Mexico

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    Para obtener la excelencia académica, referida por las instituciones de educación Superior como la calidad de los servicios educativos y de infraestructura con que se cuenta para poder desarrollar el proceso de enseñanza de los docentes y de aprendizaje de los discentes, se requiere del compromiso de los actores que en las organizaciones educativas trabajan, especialmente el de los profesores, ya que la participación y el compromiso de estos asumen un papel preponderante para el alcance de los objetivos organizacionales. Esta investigación revisa la relación entre el compromiso organizacional, definido como un constructo multidimensional bajo la perspectiva de Meyer y Allen (1993), y la excelencia académica del profesorado en una universidad privada de México, mediante una muestra de comparativa de 73 profesores, 20 evaluados en el rango de excelencia y el resto dentro de la media, siendo valorados por la propia institución. Los resultados indican que no existen diferencias significativas entre los profesores de excelencia en cuanto a las dimensiones de compromiso organizacional. Tampoco se encontró relación entre la edad y la antigüedad con las dimensiones de compromiso organizacional.Academic excellence referred by the Institutions of Higher Education as the quality of educational services and infrastructure which account to develop the teaching of teachers and students requires Organizational Commitment, this one is defined as the link that an employee establishes with its organization, is a variable that has been associated to the worker’s turnover intention, attitude and performance. However, there are few studies in education about the relationship established by teachers to their schools or universities, and their final performance in the classroom. It is this performance the one that leads us to consider the academic excellence of teachers as a variable of high interest to public and private higher education institutions. It is here where participation and commitment of teachers become a leading issue towards achieving organizational objectives. This research reviews the relationship between organizational commitment, defined as a multidimensional issue, under the perspective of Meyer and Allen (1993), and the academic excellence of educators in a private university in Mexico, through a comparative sample of 73 teachers, 20 evaluated in the range of excellence, and the rest in the middle, being evaluated by the institution itself. The results indicate that there are no significant differences between teachers of excellence in terms of the dimensions of organizational commitment. Nor relationship between age or trajectory with the dimensions of organizational commitment was found.Educació

    Understanding CRISPR/Cas9: A Magnificent Tool for Plant Genome Editing

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    Nowadays, it is well known that archaea organisms as well as bacteria show an important range of defense mechanisms. Among others, a unique molecular system called CRISPR/Cas (clustered regularly interspaced short palindromic repeats) helps provide protection (adaptive guided immunity) athwart foreign nucleic acids, including plasmids and viral infections. As a typical immune response, CRISPR system is based on the acquisition of genetic records provided by infectious external agents, and in this sense, a high interference upon a new infection is unchained. In relation to plant research, less than 10 years ago, efforts to understand this peculiar mechanism and the possibility of being used in biotechnological processes have been focused on obtaining atavistic changes in different transformable vegetal specimens by inducing selective mutations into a reading frame that may be translated in a given moment (i.e., ORF; open reading frame). In light of the consideration that one common use of ORFs is to assist gene prediction processes, palindromic repeats are mostly based on the directed mutations via nonhomologous end joining. Although it is true that DNA-free editing techniques are now desirable for molecular crop breeding, CRISPR/Cas as a mutational regulatory system in plant biology may offer better complex genome rearrangements

    The Extraordinary Nature of RNA Interference in Understanding Gene Downregulation Mechanism in Plants

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    Gene silencing (also known as ribonucleic acid [RNA] interference [RNAi] or interfering RNA) was first recognized in plants and is considered one of the most significant discoveries in molecular biology in the last several years. These short-chain ribonucleic acid molecules regulate eukaryotic gene expression. The phenomenon involves a process that promotes RNA transcripts degradation through complementarity between RNA molecules and RNAi transcripts, resulting in the reduction of their translation levels. There are two principal classes of regulatory RNA molecules: small interfering RNAs (siRNA) and microRNAs (miRNA). Both are generated from the cleavage of double-stranded self-complementary RNA hairpins by a DICER enzyme that belongs to the RNase III family. Small RNAs (of about 21–24 nucleotides in size) guide specific effector Argonaute protein to a target nucleotide sequence by complementary base pairing. Thereby, the effector protein complex downregulates the expression of RNA or DNA targets. In plants, cis-regulatory RNAi sequences are involved in defense mechanisms against antagonistic organisms and transposition events, while trans-regulatory sequences participate in growth-related gene expression. siRNA also performs neutral antiviral defense mechanisms and adaptive stress responses. This document is an attempt to scrutinize the RNAi nature in understanding gene downregulation mechanism in plants and some technical applications

    Analysis of inflammatory protein profiles in the circulation of COVID-19 patients identifies patients with severe disease phenotypes

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    Background: The coronavirus disease (COVID-19) caused by the severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) can present with a broad range of clinical manifestations, ranging from asymptomatic to severe multiple organ failure. The severity of the disease can vary depending on factors such as age, sex, ethnicity, and pre-existing medical conditions. Despite multiple efforts to identify reliable prognostic factors and biomarkers, the predictive capacity of these markers for clinical outcomes remains poor. Circulating proteins, which reflect the active mechanisms in an individual, can be easily measured in clinical practice and therefore may be useful as biomarkers for COVID-19 disease severity. In this study, we sought to identify protein biomarkers and endotypes for COVID-19 severity and evaluate their reproducibility in an independent cohort.Methods: We investigated a cohort of 153 Greek patients with confirmed SARS-CoV-2 infection in which plasma protein levels were measured using the Olink Explore 1536 panel, which consists of 1472 proteins. We compared the protein profiles from severe and moderate COVID-19 patients to identify proteins associated with disease severity. To evaluate the reproducibility of our findings, we compared the protein profiles of 174 patients with comparable COVID-19 severities in a US COVID-19 cohort to identify proteins consistently correlated with COVID-19 severity in both groups.Results: We identified 218 differentially regulated proteins associated with severity, 20 proteins were also replicated in an external cohort which we used for validation. Moreover, we performed unsupervised clustering of patients based on 97 proteins with the highest log2 fold changes in order to identify COVID-19 endotypes. Clustering of patients based on differentially regulated proteins revealed the presence of three clinical endotypes. While endotypes 2 and 3 were enriched for severe COVID-19 patients, endotypes 3 represented the most severe form of the disease.Conclusions: These results suggest that identified circulating proteins may be useful for identifying COVID-19 patients with worse outcomes, and this potential utility may extend to other populations. Trial registration: NCT04357366.</p
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