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1.
J Med Virol ; 96(7): e29773, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38940448

ABSTRACT

The dynamics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) transmission are influenced by a variety of factors, including social restrictions and the emergence of distinct variants. In this study, we delve into the origins and dissemination of the Alpha, Delta, and Omicron-BA.1 variants of concern in Galicia, northwest Spain. For this, we leveraged genomic data collected by the EPICOVIGAL Consortium and from the GISAID database, along with mobility information from other Spanish regions and foreign countries. Our analysis indicates that initial introductions during the Alpha phase were predominantly from other Spanish regions and France. However, as the pandemic progressed, introductions from Portugal and the United States became increasingly significant. The number of detected introductions varied from 96 and 101 for Alpha and Delta to 39 for Omicron-BA.1. Most of these introductions left a low number of descendants (<10), suggesting a limited impact on the evolution of the pandemic in Galicia. Notably, Galicia's major coastal cities emerged as critical hubs for viral transmission, highlighting their role in sustaining and spreading the virus. This research emphasizes the critical role of regional connectivity in the spread of SARS-CoV-2 and offers essential insights for enhancing public health strategies and surveillance measures.


Subject(s)
COVID-19 , SARS-CoV-2 , Spain/epidemiology , COVID-19/epidemiology , COVID-19/transmission , COVID-19/virology , Humans , SARS-CoV-2/genetics , Genome, Viral , Phylogeny , Pandemics
2.
medRxiv ; 2024 Feb 28.
Article in English | MEDLINE | ID: mdl-38463998

ABSTRACT

The dynamics of SARS-CoV-2 transmission are influenced by a variety of factors, including social restrictions and the emergence of distinct variants. In this study, we delve into the origins and dissemination of the Alpha, Delta, and Omicron variants of concern in Galicia, northwest Spain. For this, we leveraged genomic data collected by the EPICOVIGAL Consortium and from the GISAID database, along with mobility information from other Spanish regions and foreign countries. Our analysis indicates that initial introductions during the Alpha phase were predominantly from other Spanish regions and France. However, as the pandemic progressed, introductions from Portugal and the USA became increasingly significant. Notably, Galicia's major coastal cities emerged as critical hubs for viral transmission, highlighting their role in sustaining and spreading the virus. This research emphasizes the critical role of regional connectivity in the spread of SARS-CoV-2 and offers essential insights for enhancing public health strategies and surveillance measures.

3.
Poult Sci ; 103(2): 103238, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38071783

ABSTRACT

The Mapuche fowl is an autochthonous breed raised in Chile and represents an important zoogenetic resource for the local economy. This study aimed at investigating the genetic diversity, relationship and population structure of 96 local Chilean chickens derived from 3 ecotype of Mapuche fowl (Kollonka, Ketro, and Kollonka de aretes), 2 ecotype Chilean (Trintre, Cogote pelado) and 2 breeds (Light Brahma and Barred Plymouth Rock) using 12 microsatellite markers. In total, 113 alleles were detected in all populations, with a mean of 7.6 alleles per population. In all population chicken breeds, the observed and expected heterozygosity ranged from 0.91 to 0.98 and from 0.69 to 0.79. Furthermore, all populations showed significant deviations from Hardy-Weinberg expectations. Across each population, the global heterozygosity deficit (FIT) was -0.174, population differentiation index (FST) was 0.073, and the global inbreeding of individuals within breed (FIS) was -0.267. The phylogenetic relationships of chickens were examined using neighbor-joining trees constructed at the level of population. The highest Nei's standard genetic distance value of 0.559 was observed between Barred Plymouth Rock and Light Brahma, whereas the minimum value (0.099) was found between Kollonka and Trintre. The neighbor-joining tree constructed at population level revealed 2 main clusters, with Light Brahma, Barred Plymouth Rock, Ketro and Kollonka de aretes in 1 cluster, and Kollonka, Trintre and Cogote pelado breeds in the second cluster. Based on the results of the STRUCTURE analysis, the most likely number of clustering of the population evaluated was at K = 3, with Light Brahma and Barred Plymouth Rock breeds forming their own distinct clusters, while Kollonka, Ketro, Kollonka de aretes, Trintre and Cogote pelado breeds clustered together. This study represents the first report of genetic diversity in these populations in Chile. These results can be used as baseline genetic information for genetic conservation program, for instance, to control inbreeding and to implement further genetic studies in local Chilean chickens.


Subject(s)
Chickens , Genetic Variation , Humans , Animals , Chickens/genetics , Chile , Phylogeny , Breeding , Microsatellite Repeats
4.
Poult Sci ; 102(2): 102339, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36493549

ABSTRACT

The poultry industry produces most of the meat and eggs for human consumption worldwide. However, family poultry farming still plays an important role in developing countries providing high quality animal products including eggs and poultry meat for family and local consumption. A field survey was taken to 145 family poultry farmers off the commune of Maullin, Los Lagos Region of Southern Chile, to describe their husbandry and breeding practices, and provide information for future development and conservation priorities. Egg production in these poultry systems of the Maullín commune is a family tradition, run mostly by women, provides an extra income from the sale of extra eggs and chicken meat during autumn and winter months. Flocks of 15 to 30 native, creole or indigenous hens, reach point of lay at 5 or 6 months old. Egg production with a mean rate of 40%, peaks during September. Brown eggs are the most frequent, followed by blue-greenish eggs derived from Mapuche fowl ancestry. A ratio of 10 to 20 females per rooster results in ca. 60% hatching rate from natural incubation. While males are kept for two seasons only, females are kept longer, some until old. Diet is based on locally available or self-produced grains, complemented by pasture browsing, scavenging, and kitchen waste. Sanitary management is low or none and technical knowledge derives from ancestral tradition. Investment in accommodation and feeding is low. Results provide information on these systems in non-tropical areas of developing countries where it is scarce, and highlights how these systems can respond to the challenges of future poultry production, considering both climate change and consumers demand for more wholesome, human and sustainable products.


Subject(s)
Chickens , Poultry , Humans , Male , Animals , Female , Chile , Animal Husbandry/methods , Ovum
5.
Plant Methods ; 18(1): 88, 2022 Jun 25.
Article in English | MEDLINE | ID: mdl-35752854

ABSTRACT

BACKGROUND: Jubaea chilensis (Molina) Baillon, is a uniquely large palm species endemic to Chile. It is under threatened status despite its use as an ornamental species throughout the world. This research seeks to identify the phyllotaxis of the species based on an original combination of non-destructive data acquisition technologies, namely Magnetic Resonance Imaging (MRI) in saplings and young individuals and Terrestrial Laser Scanning (TLS) in standing specimens, and a novel analysis methodology. RESULTS: Two phyllotaxis parameters, parastichy pairs and divergence angle, were determined by analyzing specimens at different developmental stages. Spiral phyllotaxis patterns of J. chilensis progressed in complexity from parastichy pairs (3,2) and (3,5) in juvenile specimens and (5,3), (8,5) and (8,13) for adult specimens. Divergence angle was invariable and averaged 136.9°, close to the golden angle. Phyllotactic pattern changes associated with establishment phase, the adult vegetative and the adult reproductive phases were observed. Both technologies, MRI and TLS proved to be adequate for the proposed analysis. CONCLUSIONS: Understanding phyllotactic transitions may assist identification of developmental stages of wild J. chilensis specimens. The proposed methodology may also be useful for the study of other palm species.

6.
Nat Genet ; 53(10): 1405-1414, 2021 10.
Article in English | MEDLINE | ID: mdl-34594042

ABSTRACT

The coronavirus disease 2019 (COVID-19) pandemic has affected the world radically since 2020. Spain was one of the European countries with the highest incidence during the first wave. As a part of a consortium to monitor and study the evolution of the epidemic, we sequenced 2,170 samples, diagnosed mostly before lockdown measures. Here, we identified at least 500 introductions from multiple international sources and documented the early rise of two dominant Spanish epidemic clades (SECs), probably amplified by superspreading events. Both SECs were related closely to the initial Asian variants of SARS-CoV-2 and spread widely across Spain. We inferred a substantial reduction in the effective reproductive number of both SECs due to public-health interventions (Re < 1), also reflected in the replacement of SECs by a new variant over the summer of 2020. In summary, we reveal a notable difference in the initial genetic makeup of SARS-CoV-2 in Spain compared with other European countries and show evidence to support the effectiveness of lockdown measures in controlling virus spread, even for the most successful genetic variants.


Subject(s)
COVID-19/epidemiology , COVID-19/transmission , Communicable Disease Control/organization & administration , Models, Statistical , SARS-CoV-2/genetics , COVID-19/virology , Communicable Disease Control/methods , Humans , Incidence , Phylogeny , Physical Distancing , Quarantine/methods , Quarantine/organization & administration , SARS-CoV-2/classification , SARS-CoV-2/pathogenicity , Severity of Illness Index , Spain/epidemiology
7.
Poult Sci ; 99(11): 6239-6246, 2020 Nov.
Article in English | MEDLINE | ID: mdl-33142542

ABSTRACT

The objective of this study was to evaluate consumer habits as well as the sensory perception and characteristics of farm eggs produced in Los Ríos, Chile. Data were collected from an online survey of 197 respondents and a sensory evaluation carried out by 30 untrained panelists of 4 types of eggs (brown-shell and blue-shell eggs acquired from family farms, free-range eggs acquired from large, industrial systems, and white-shell cage eggs from industrial, cage systems.) To evaluate differences and preferences, data were analyzed in a GLM. In addition, sensory evaluation was analyzed using principal component analysis. In accordance with the survey, 99% of the participants eat eggs (P < 0.001), 58% eat 1 to 3 eggs/wk, and 84% declared to consume eggs at home (<0.0001). Surveyed participants reported that price and size are the determining factors (31%) when purchasing eggs. Among the physical characteristic for consumers, yolk color was the most important attribute rather than white color, egg appearance, texture, flavor, or odor. In the consumer acceptability test, farm eggs (either brown or blue shell) received the most favorable sensory evaluation by the panel and were preferred to both free-range and white-shell cage eggs. Yolk color was the most influential parameter in making this difference. Brown farm eggs were predominately selected for greatest general satisfaction by participants in both the sensory evaluation (P = 0.008) and in the survey (40%; P = 0.026). There were no differences between farm eggs (brown and blue shell, P > 0.05) in the evaluated parameters. There was a consequence in the information given from surveyed consumers and the sensory panel with the yolk color.


Subject(s)
Animal Husbandry , Chickens , Consumer Behavior , Eggs , Animal Husbandry/statistics & numerical data , Animals , Chile , Eggs/standards , Eggs/statistics & numerical data , Farms/statistics & numerical data , Female , Male , Sensation , Surveys and Questionnaires
8.
R Soc Open Sci ; 7(2): 191558, 2020 Feb.
Article in English | MEDLINE | ID: mdl-32257320

ABSTRACT

Chickens (Gallus gallus domesticus) from the Americas have long been recognized as descendants of European chickens, transported by early Europeans since the fifteenth century. However, in recent years, a possible pre-Columbian introduction of chickens to South America by Polynesian seafarers has also been suggested. Here, we characterize the mitochondrial control region genetic diversity of modern chicken populations from South America and compare this to a worldwide dataset in order to investigate the potential maternal genetic origin of modern-day chicken populations in South America. The genetic analysis of newly generated chicken mitochondrial control region sequences from South America showed that the majority of chickens from the continent belong to mitochondrial haplogroup E. The rest belongs to haplogroups A, B and C, albeit at very low levels. Haplogroup D, a ubiquitous mitochondrial lineage in Island Southeast Asia and on Pacific Islands is not observed in continental South America. Modern-day mainland South American chickens are, therefore, closely allied with European and Asian chickens. Furthermore, we find high levels of genetic contributions from South Asian chickens to those in Europe and South America. Our findings demonstrate that modern-day genetic diversity of mainland South American chickens appear to have clear European and Asian contributions, and less so from Island Southeast Asia and the Pacific Islands. Furthermore, there is also some indication that South Asia has more genetic contribution to European chickens than any other Asian chicken populations.

9.
Rev. esp. quimioter ; 33(2): 116-121, abr. 2020. tab, graf
Article in Spanish | IBECS | ID: ibc-197713

ABSTRACT

OBJETIVOS: En 1998 la Región de Europa de la Organización Mundial de la Salud fijó el objetivo de eliminar el sarampión. En este estudio se analizó la prevalencia de la inmunidad frente al virus del sarampión en la población del área sanitaria de Santiago de Compostela a partir de los datos obtenidos entre 2008-2018. PACIENTES Y MÉTODOS: Se estudiaron 7.150 pacientes diferentes que se dividieron en grupos según su año de nacimiento: 2010-2017, 2000-2009, 1990-1999, 1980-1989, 1953-1979 y <1953. La determinación en suero de IgG frente al virus del sarampión se realizó mediante un inmunoensayo quimioluminiscente comercializado. RESULTADOS: Se observó un mínimo (76%) para las tasas de protección frente al virus del sarampión en los nacidos entre 1990-1999. Por grupo de edad se vio que en todos los grupos las mujeres presentaron un porcentaje superior de anticuerpos frente al sarampión. En un modelo de regresión logística con año de nacimiento y sexo se obtuvo una odds ratio para el año de nacimiento (p < 0,001) de 1,06 y para el sexo (p = 0,0013) de 0,82. CONCLUSIONES: Se observaron seroprevalencias inferiores a partir de la implantación de la vacuna, un cambio más acusado durante el periodo de implantación y desde el plan de vacunación para el sarampión del año 2000 en Galicia, las tasas de protección frente al virus del sarampión han ido aumentado en nuestra área. Aunque se observó una mayor proporción de mujeres protegidas frente a la de hombres, estas diferencias fueron escasas


OBJECTIVES: In 1998, the Europe Region of the World Health Organization set the goal of eliminating measles. In this study, the prevalence of immunity against measles virus in the population of the health area of Santiago de Compostela was analyzed based on data obtained between 2008-2018. METHODS: A total of 7,150 different patients were studied and divided into groups according to their year of birth: 2010-2017, 2000-2009, 1990-1999, 1980-1989, 1953-1979 and <1953. The serum determination of IgG against measles virus was performed using a commercialized chemiluminescent immunoassay. RESULTS: A minimum (76%) was observed for measles virus protection rates in those born between 1990-1999. By age group it was seen that in all groups the women presented a higher percentage of antibodies against measles. In a logistic regression model with year of birth and sex, an odds ratio of 1.06 (p < 0.001) was obtained for the year of birth and of 0.82 (p = 0.0013) for sex. CONCLUSIONS: It was observed lower seroprevalences from the implantation of the vaccine and a more pronounced change during the implantation period. From the vaccination plan for measles of the year 2000 in Galicia, the rates of protection against the virus of the measles have been increasing in our area. Although there is a greater proportion of women protected against men, these differences are small


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged , Aged , Aged, 80 and over , Antibodies, Viral/blood , Immunoglobulin G/blood , Measles/immunology , Measles virus/immunology , Age Factors , Cross-Sectional Studies , Logistic Models , Odds Ratio , Seroepidemiologic Studies , Spain
10.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 37(3): 160-166, mar. 2019. tab, graf
Article in Spanish | IBECS | ID: ibc-181299

ABSTRACT

Introduction: The American Thoracic Society and the Infectious Diseases Society of America recommend that clinically significant non-tuberculous mycobacteria (NTM) should be identified to the species level in order to determine their clinical significance. The aim of this study was to evaluate identification of rapidly growing NTM (RGM) isolated from clinical samples by using MALDI-TOF MS and a commercial molecular system. The results were compared with identification using a reference method. Methods: We included 46 clinical isolates of RGM and identified them using the commercial molecular system GenoType(R) CM/AS (Hain, Lifescience, Germany), MALDI-TOF MS (Bruker) and, as reference method, partial rpoBeta gene sequencing followed by BLAST and phylogenetic analysis with the 1093 sequences available in the GeneBank. Results: The degree of agreement between GenoType(R) and MALDI-TOF MS and the reference method, partial rpoBeta sequencing, was 27/43 (62.8%) and 38/43 cases (88.3%) respectively. For all the samples correctly classified by GenoType(R), we obtained the same result with MALDI-TOF MS (27/27). However, MALDI-TOF MS also correctly identified 68.75% (11/16) of the samples that GenoType(R) had misclassified (p = 0.005). Conclusions: MALDI-TOF MS classified significantly better than GenoType(R). When a MALDI-TOF MS score >1.85 was achieved, MALDI-TOF MS and partial rpoBeta gene sequencing were equivalent. GenoType(R) was not able to distinguish between species belonging to the M. fortuitum complex. MALDI-TOF MS methodology is simple, rapid and associated with lower consumable costs than GenoType(R). The partial rpoBeta sequencing methods with BLAST and phylogenetic analysis were not able to identify some RGM unequivocally. Therefore, sequencing of additional regions would be indicated in these cases


Introducción: La American Thoracic Society y la Infectious Diseases Society of America recomiendan que las micobacterias no tuberculosas (MNT) clínicamente relevantes sean identificadas a nivel de especie para determinar su significado clínico. El propósito de este estudio fue a partir de MNT de crecimiento rápido (MCR) aisladas en muestras clínicas, evaluar su identificación mediante MALDI-TOF MS y un método molecular comercial, comparando estos resultados con la identificación obtenida usando un método de referencia. Métodos: Se incluyeron 46 aislados clínicos de MCR. Estos aislados se identificaron mediante el método molecular comercial GenoType(R) Mycobacterium CM/AS (Hain, Lifescience, Alemania), MALDI-TOF MS (Bruker) y, como método de referencia, la secuenciación parcial del gen rpoBeta seguido de BLAST y análisis filogenético. Para el análisis filogenético se utilizaron 1.093 secuencias disponibles en el GeneBank. Resultados: Entre GenoType(R) o MALDI-TOF MS, la concordancia respecto al método de referencia, secuenciación parcial de rpoB, fue 27/43 (62,8%) y 38/43 casos (88,3%), respectivamente. En todas las muestras que GenoType(R) clasificó correctamente con MALDI-TOF MS se obtuvo el mismo resultado (27/27). Pero además MALDI-TOF MS identificó bien 68,75% (11/16) de las muestras que GenoType(R) no clasificó correctamente (p = 0,005). Conclusiones: MALDI-TOF MS clasificó significativamente mejor que GenoType(R). Cuando MALDI-TOF MS alcanzó una puntuación >1,85, MALDI-TOF y la secuenciación parcial del gen rpoβ fueron equivalentes. GenoType(R) no distinguió dentro del M. fortuitum complex. La metodología MALDI-TOF MS es simple, rápida y se asocia a un menor coste de consumibles que GenoType(R). La secuenciación parcial del gen rpoBeta con BLAST y análisis filogenético no lograron identificar de manera inequívoca algunas MCR. Para estas MCR estaría indicado la secuenciación de regiones adicionales


Subject(s)
Humans , Sequence Analysis , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods , Nontuberculous Mycobacteria/isolation & purification , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/instrumentation , Mycobacterium Infections, Nontuberculous/microbiology , Bacteriological Techniques/methods , Bacteriological Techniques/trends
11.
G3 (Bethesda) ; 9(3): 769-787, 2019 03 07.
Article in English | MEDLINE | ID: mdl-30647106

ABSTRACT

We explored the effects of ultraviolet B radiation (UV-B) on the developmental dynamics of microRNAs and phased small-interfering-RNA (phasi-RNAs)-producing loci by sequencing small RNAs in vegetative and reproductive organs of grapevine (Vitis vinifera L.). In particular, we tested different UV-B conditions in in vitro-grown plantlets (high-fluence exposition) and in berries from field-grown (radiation filtering) and greenhouse-grown (low- and high-fluence expositions) adult plants throughout fruit development and ripening. The functional significance of the observed UV-coordinated miRNA responses was supported by degradome evidences of ARGONAUTE (AGO)-programmed slicing of mRNAs. Co-expression patterns of the up-regulated miRNAs miR156, miR482, miR530, and miR828 with cognate target gene expressions in response to high-fluence UV-B was tested by q-RT-PCR. The observed UV-response relationships were also interrogated against two published UV-stress and developmental transcriptome datasets. Together, the dynamics observed between miRNAs and targets suggest that changes in target abundance are mediated transcriptionally and, in some cases, modulated post-transcriptionally by miRNAs. Despite the major changes in target abundance are being controlled primarily by those developmental effects that are similar between treatments, we show evidence for novel miRNA-regulatory networks in grape. A model is proposed where high-fluence UV-B increases miR168 and miR530 that target ARGONAUTE 1 (AGO1) and a Plus-3 domain mRNA, respectively, while decreasing miR403 that targets AGO2, thereby coordinating post-transcriptional gene silencing activities by different AGOs. Up-regulation of miR3627/4376 could facilitate anthocyanin accumulation by antagonizing a calcium effector, whereas miR395 and miR399, induced by micronutrient deficiencies known to trigger anthocyanin accumulation, respond positively to UV-B radiation. Finally, increases in the abundance of an anthocyanin-regulatory MYB-bHLH-WD40 complex elucidated in Arabidopsis, mediated by UV-B-induced changes in miR156/miR535, could contribute to the observed up-regulation of miR828. In turn, miR828 would regulate the AtMYB113-ortologues MYBA5, A6 and A7 (and thereby anthocyanins) via a widely conserved and previously validated auto-regulatory loop involving miR828 and phasi TAS4abc RNAs.


Subject(s)
Argonaute Proteins/metabolism , Fruit/genetics , Gene Expression Regulation, Plant , MicroRNAs/metabolism , Signal Transduction , Ultraviolet Rays , Vitis/genetics , Anthocyanins/biosynthesis , Arabidopsis , Fruit/metabolism , Fruit/radiation effects , Gene Expression Profiling , Gene Expression Regulation, Developmental , MicroRNAs/genetics , Oxidative Stress , Plant Proteins/metabolism , RNA, Plant/genetics , RNA, Plant/metabolism , Vitis/metabolism , Vitis/radiation effects
12.
Enferm Infecc Microbiol Clin (Engl Ed) ; 37(3): 160-166, 2019 Mar.
Article in English, Spanish | MEDLINE | ID: mdl-29871765

ABSTRACT

INTRODUCTION: The American Thoracic Society and the Infectious Diseases Society of America recommend that clinically significant non-tuberculous mycobacteria (NTM) should be identified to the species level in order to determine their clinical significance. The aim of this study was to evaluate identification of rapidly growing NTM (RGM) isolated from clinical samples by using MALDI-TOF MS and a commercial molecular system. The results were compared with identification using a reference method. METHODS: We included 46 clinical isolates of RGM and identified them using the commercial molecular system GenoType® CM/AS (Hain, Lifescience, Germany), MALDI-TOF MS (Bruker) and, as reference method, partial rpoß gene sequencing followed by BLAST and phylogenetic analysis with the 1093 sequences available in the GeneBank. RESULTS: The degree of agreement between GenoType® and MALDI-TOF MS and the reference method, partial rpoß sequencing, was 27/43 (62.8%) and 38/43 cases (88.3%) respectively. For all the samples correctly classified by GenoType®, we obtained the same result with MALDI-TOF MS (27/27). However, MALDI-TOF MS also correctly identified 68.75% (11/16) of the samples that GenoType® had misclassified (p=0.005). CONCLUSIONS: MALDI-TOF MS classified significantly better than GenoType®. When a MALDI-TOF MS score >1.85 was achieved, MALDI-TOF MS and partial rpoß gene sequencing were equivalent. GenoType® was not able to distinguish between species belonging to the M. fortuitum complex. MALDI-TOF MS methodology is simple, rapid and associated with lower consumable costs than GenoType®. The partial rpoß sequencing methods with BLAST and phylogenetic analysis were not able to identify some RGM unequivocally. Therefore, sequencing of additional regions would be indicated in these cases.


Subject(s)
Bacterial Proteins/genetics , DNA-Directed RNA Polymerases/genetics , Nontuberculous Mycobacteria/genetics , Nontuberculous Mycobacteria/isolation & purification , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Bacteriological Techniques/methods , Base Sequence , DNA, Bacterial/analysis , Genotype , Humans , Nontuberculous Mycobacteria/physiology , Phylogeny
13.
Mol Cell Biol ; 39(1)2019 01 01.
Article in English | MEDLINE | ID: mdl-30348840

ABSTRACT

Welander distal myopathy (WDM) is a muscle dystrophy characterized by adult-onset distal muscle weakness, prevalently impacting the distal long extensors of the hands and feet. WDM is an autosomal dominant disorder caused by a missense mutation (c.1362G>A; p.E384K) in the TIA1 (T-cell intracellular antigen 1) gene, which encodes an RNA-binding protein basically required for the posttranscriptional regulation of RNAs. We have developed a heterologous cell model of WDM to study the molecular and cellular events associated with mutated TIA1 expression. Specifically, we analyzed how this mutation affects three regulatory functions mediated by TIA1: (i) control of alternative SMN2 (survival motor neuron 2) splicing; (ii) formation, assembly, and disassembly of stress granules; and (iii) mitochondrial dynamics and its consequences for mitophagy, autophagy, and apoptosis. Our results show that whereas WDM-associated TIA1 expression had only a mild effect on SMN2 splicing, it led to suboptimal adaptation to environmental stress, with exacerbated stress granule formation that was accompanied by mitochondrial dysfunction and autophagy. Overall, our observations indicate that some aspects of the cell phenotype seen in muscle of patients with WDM can be recapitulated by ectopic expression of WDM-TIA1 in embryonic kidney cells, highlighting the potential of this model to investigate the pathogenesis of this degenerative disease and possible therapeutics.


Subject(s)
Distal Myopathies/metabolism , Muscle, Skeletal/metabolism , T-Cell Intracellular Antigen-1/metabolism , T-Lymphocytes/metabolism , Humans , Mutation/genetics , RNA Splicing/genetics , RNA-Binding Proteins/genetics , RNA-Binding Proteins/metabolism
14.
PLoS One ; 13(12): e0208526, 2018.
Article in English | MEDLINE | ID: mdl-30533021

ABSTRACT

Control of gene expression depends on genetics and environmental factors. The T-cell intracellular antigens T-cell intracellular antigen 1 (TIA1), TIA1-like/related protein (TIAL1/TIAR) and human antigen R (HuR/ELAVL1) are RNA-binding proteins that play crucial roles in regulating gene expression in both situations. This study used massive sequencing analysis to uncover molecular and functional mechanisms resulting from the short-time expression of the b isoforms of TIA1 and TIAR, and of HuR in HEK293 cells. Our gene profiling analysis identified several hundred differentially expressed genes (DEGs) and tens of alternative splicing events associated with TIA1b, TIARb and HuR overexpression. Gene ontology analysis revealed that the controlled expression of these proteins strongly influences the patterns of DEGs and RNA variants preferentially associated with development, reproduction, cell cycle, metabolism, autophagy and apoptosis. Mechanistically, TIA1b and TIARb isoforms display both common and differential effects on the regulation of gene expression, involving systematic perturbations of cell biosynthetic machineries (splicing and translation). The transcriptome outputs were validated using functional assays of the targeted cellular processes as well as expression analysis for selected genes. Collectively, our observations suggest that early TIA1b and TIARb expression operates to connect the regulatory crossroads to protective proteostasis responses associated with a survival quiescence phenotype.


Subject(s)
ELAV-Like Protein 1/metabolism , RNA-Binding Proteins/metabolism , T-Cell Intracellular Antigen-1/metabolism , Transcriptome , Alternative Splicing , Cell Proliferation , ELAV-Like Protein 1/genetics , G1 Phase Cell Cycle Checkpoints , Gene Expression Profiling , Gene Ontology , HEK293 Cells , Humans , Protein Isoforms/genetics , Protein Isoforms/metabolism , Proteostasis , RNA/genetics , RNA/metabolism , RNA-Binding Proteins/genetics , T-Cell Intracellular Antigen-1/genetics
15.
Biochem Biophys Res Commun ; 503(4): 2569-2575, 2018 09 18.
Article in English | MEDLINE | ID: mdl-30017198

ABSTRACT

T-cell intracellular antigen (TIA) proteins function as regulators of cell homeostasis by controlling global gene expression in response to dynamic regulatory changes and environmental stress. Here, we used two-dimensional differential in-gel electrophoresis (2D-DIGE) and mass spectrometry (MALDI-TOF/TOF) to identify protein changes associated with the down-regulated expression of TIA proteins. We detected 30 differentially expressed proteins (DEPs), 24 of which were identified, and some of these DEPs were validated by western blotting. In silico analysis showed that DEPs were associated with metabolic processes, detoxification and proteostasis. We mapped the DEPs to the available biological pathways and networks, which included the metabolism of small molecules such as sugars, lipids, amino acids, and nucleotides. Our findings support previous studies and suggest that low expression of TIA proteins might act as a potential adaptive switch to link gene expression reprogramming to a proliferative phenotype mediated by a hormesis phenomenon.


Subject(s)
Antigens/metabolism , Gene Expression Profiling , Hormesis , Proteomics/methods , T-Lymphocytes/immunology , Animals , Electrophoresis, Gel, Two-Dimensional , Gene Regulatory Networks , Humans , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
16.
Front Plant Sci ; 9: 363, 2018.
Article in English | MEDLINE | ID: mdl-29681907

ABSTRACT

Color and other quality parameters of "Redglobe" grape (Vitis vinifera L.) berries were evaluated after treatment with brassinosteroid (BR) analogs. Three BRs analogs (24-epibrassinolide, Triol, or Lactone) were applied at three concentrations (0.0, 0.4, or 0.8 mg⋅L-1), at the onset of veraison. A commercial formulation (B-2000®) was also applied, at a recommended rate of 0.06 mg⋅L-1. The tested BR analogs were effective improving berry color (evaluated as color index for red grapes, CIRG), increasing the levels of soluble solids and anthocyanins, and changing the types of anthocyanins present without altering other quality and yield parameters. The effects of BR analogs on color enhancement could be explained by an increase in soluble solids content and/or anthocyanin content. Treatment with 24-epibrassinolide (at 0.4 mg⋅L-1) or the commercial formulation tended to favor the production of dihydroxylated anthocyanins, which are responsible for the red and pink colors of grape berries. Results indicate that the use of BRs constitutes a potential tool in the production of table grapes. This is the first report of this enhancement effect in a productive context.

17.
Rev. esp. quimioter ; 30(6): 468-471, dic. 2017. graf
Article in Spanish | IBECS | ID: ibc-169402

ABSTRACT

Introducción. La edad y sexo a la que se produce la primoinfección por VEB en España es un tema poco estudiado. El objetivo de este trabajo es conocer su relación con la presencia de la primoinfección por VEB entre los años 2006 a 2015 en nuestra área sanitaria. Pacientes y métodos. Se estudiaron 578 pacientes del área sanitaria de Santiago de Compostela con patrones serológicos de primoinfección por VEB, resultados serológicos de IgM-VCA positivo, IgG-VCA positivo y EBNA negativo correspondientes a los años 2006 a 2015. Resultados. Se encontraron 260/578 (45%) adolescentes (11-19 años). En número de casos por edad se observaron dos máximos, a los 2 y 16 años. Entre los 14-19 años, un 62% (79/127) de mujeres tenían entre 14-16 años, mediana de edad 15,8 años (IQ: 14,8-16,4) frente a un 48% (49/102) de hombres, mediana de edad 16 años (IQ: 15,7-16,6) (p=0,032, p=0,02, respectivamente). Conclusiones. Como en nuestro estudio, en los países desarrollados la mayoría de primoinfecciones por VEB ocurren en la adolescencia y se observa una distribución bimodal en relación a la edad. Durante la adolescencia las mujeres adquieren antes que los hombres la primoinfección por VEB (AU)


Introduction. In Spain, the age and sex to which the primary infection by EBV is produced is poorly studied. The objective of this work is to know its relation with the presence of the primary infection by EBV between the years 2006 and 2015 in our health area. Patients and methods. From the Santiago de Compostela health area between 2006 and 2015, 578 patients with serological patterns of EBV primoinfection were selected. This patients presented serological results of IgM-VCA positive, IgG-VCA positive and EBNA negative. Results. We found 260/578 (45%) adolescents (11- 19 years). In the number of cases by age the maximum was observed, at 2 and 16 years. Between 14-19 years, 62% (79/127) of women between 14-16 years of age, median age 15.8 years (IQ: 14.8-16.4) compared to 48% (49/102) of men, median age 16 years (IQ: 15.7-16.6) (p = 0.032, p = 0.02, respectively). Conclusions. As in our study, in the developed countries the majority of primary infections by EBV occur in adolescence and a bimodal distribution is observed in relation to age. During adolescence women acquire before men the first infection by EBV (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Herpesvirus 4, Human/isolation & purification , Epstein-Barr Virus Infections/epidemiology , Infectious Mononucleosis/epidemiology , Age and Sex Distribution , Retrospective Studies
18.
Front Plant Sci ; 8: 1084, 2017.
Article in English | MEDLINE | ID: mdl-28690624

ABSTRACT

Flavonols constitute a group of flavonoids with important photoprotective roles in plants. In addition, flavonol content and composition greatly influences fruit quality. We previously demonstrated that the grapevine R2R3-MYB transcription factor (TF) VviMYBF1 promotes flavonol accumulation by inducing the expression of flavonol synthase (VviFLS1/VviFLS4), a key step of the initial flavonol pathway. Despite this, gene networks underlying flavonol modification in grapevine including both structural and regulatory genes remain poorly understood. In order to identify flavonol modifying genes and TFs acting downstream of VviMYBF1 a microarray-based transcriptome analysis was performed on grapevine hairy roots ectopically expressing VviMYBF1 or a Green Fluorescent Protein as control. VviFLS1 was induced in VviMYBF1 transgenic roots and glycosylated flavonols accumulated significantly compared with control lines. Among the differentially expressed genes, potential flavonol-modifying enzymes with predicted rhamnosyltransferase (e.g., RhaT1) or glycosyltransferase (e.g., GT3) activities were identified. In addition, important TFs of the MYB and bZIP families such as the proanthocyanidin regulator VviMYBPA1 and the UV-B light responsive HY5 homolog VviHYH were significantly altered in their expression pattern by overexpression of VviMYBF1. Co-temporal expression analysis demonstrated positive correlation of VviMYBF1 with VviFLS1, VviGT3, and VviRhaT1 during berry development and in fruits ripened with different light and UV-B radiation conditions at field. These results show that VviMYBF1 overexpression led to the identification of novel genes of the flavonol pathway and that the flavonol modifying machinery can be influenced by agricultural practices to optimize flavonol composition in grapes.

19.
Mol Cell Biol ; 37(17)2017 Sep 01.
Article in English | MEDLINE | ID: mdl-28630277

ABSTRACT

Mitochondria undergo frequent morphological changes to control their function. We show here that T-cell intracellular antigens (TIA1b/TIARb) and Hu antigen R (HuR) have antagonistic roles in mitochondrial function by modulating the expression of mitochondrial shaping proteins. Expression of TIA1b/TIARb alters the mitochondrial dynamic network by enhancing fission and clustering, which is accompanied by a decrease in respiration. In contrast, HuR expression promotes fusion and cristae remodeling and increases respiratory activity. Mechanistically, TIA proteins downregulate the expression of optic atrophy 1 (OPA1) protein via switching of the splicing patterns of OPA1 to facilitate the production of OPA1 variant 5 (OPA1v5). Conversely, HuR enhances the expression of OPA1 mRNA isoforms through increasing steady-state levels and targeting translational efficiency at the 3' untranslated region. Knockdown of TIA1/TIAR or HuR partially reversed the expression profile of OPA1, whereas knockdown of OPA1 or overexpression of OPA1v5 provoked mitochondrial clustering. Middle-term expression of TIA1b/TIARb triggers reactive oxygen species production and mitochondrial DNA damage, which is accompanied by mitophagy, autophagy, and apoptosis. In contrast, HuR expression promotes mitochondrion-dependent cell proliferation. Collectively, these results provide molecular insights into the antagonistic functions of TIA1b/TIARb and HuR in mitochondrial activity dynamics and suggest that their balance might contribute to mitochondrial physiopathology.


Subject(s)
ELAV-Like Protein 1/metabolism , Gene Expression/physiology , Mitochondria/metabolism , Mitochondrial Membranes/metabolism , Optic Atrophy, Autosomal Dominant/genetics , Optic Atrophy, Autosomal Dominant/metabolism , Poly(A)-Binding Proteins/metabolism , Cell Proliferation , Cytoplasm/metabolism , GTP Phosphohydrolases/metabolism , Humans , Mitochondria/genetics , Mitochondrial Dynamics/genetics , Mitochondrial Proteins/genetics , Mitochondrial Proteins/metabolism , RNA, Messenger/genetics , T-Cell Intracellular Antigen-1
20.
Plant J ; 91(2): 220-236, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28370629

ABSTRACT

Grapevine organs accumulate anthocyanins in a cultivar-specific and environmentally induced manner. The MYBA1-A2 genes within the berry color locus in chromosome 2 represent the major genetic determinants of fruit color. The simultaneous occurrence of transposon insertions and point mutations in these genes is responsible for most white-skinned phenotypes; however, the red pigmentation found in vegetative organs suggests the presence of additional regulators. This work describes a genomic region of chromosome 14 containing three closely related R2R3-MYB genes, named MYBA5, MYBA6 and MYBA7. Ectopic expression of the latter two genes in grapevine hairy roots promoted anthocyanin accumulation without affecting other phenylpropanoids. Transcriptomic profiling of hairy roots expressing MYBA1, MYBA6 and MYBA7 showed that these regulators share the activation of late biosynthetic and modification/transport-related genes, but differ in the activation of the FLAVONOID-3'5'-HYDROXYLASE (F3'5'H) family. An alternatively spliced MYBA6 variant was incapable of activating anthocyanin synthesis, however, because of the lack of an MYC1 interaction domain. MYBA1, MYBA6.1 and MYBA7 activated the promoters of UDP-GLUCOSE:FLAVONOID 3-O-GLUCOSYLTRANSFERASE (UFGT) and ANTHOCYANIN 3-O-GLUCOSIDE-6″-O-ACYLTRANSFERASE (3AT), but only MYBA1 induced F3'5'H in concordance with the low proportion of tri-hydroxylated anthocyanins found in MYBA6-A7 hairy roots. This putative new color locus is related to the red/cyanidic pigmentation of vegetative organs in black- and white-skinned cultivars, and forms part of the UV-B radiation response pathway orchestrated by ELONGATED HYPOCOTYL 5 (HY5). These results demonstrate the involvement of additional anthocyanin regulators in grapevine and suggest an evolutionary divergence between the two grape color loci for controlling additional targets of the flavonoid pathway.


Subject(s)
Anthocyanins/biosynthesis , Plant Proteins/genetics , Transcription Factors/genetics , Vitis/metabolism , Anthocyanins/genetics , Chromosomes, Plant , Evolution, Molecular , Gene Expression Regulation, Plant , Pigmentation , Plant Proteins/metabolism , Plant Roots/genetics , Plants, Genetically Modified , Promoter Regions, Genetic , Transcription Factors/metabolism , Vitis/genetics
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