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1.
Annu Rev Phytopathol ; 62(1): 127-156, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39251211

RESUMO

Arbuscular mycorrhizal (AM) symbiosis is the oldest and most widespread mutualistic association on Earth and involves plants and soil fungi belonging to Glomeromycotina. A complex molecular, cellular, and genetic developmental program enables partner recognition, fungal accommodation in plant tissues, and activation of symbiotic functions such as transfer of phosphorus in exchange for carbohydrates and lipids. AM fungi, as ancient obligate biotrophs, have evolved strategies to circumvent plant defense responses to guarantee an intimate and long-lasting mutualism. They are among those root-associated microorganisms able to boost plants' ability to cope with biotic stresses leading to mycorrhiza-induced resistance (MIR), which can be effective across diverse hosts and against different attackers. Here, we examine the molecular mechanisms underlying the modulation of plant immunity during colonization by AM fungi and at the onset and display of MIR against belowground and aboveground pests and pathogens. Understanding the MIR efficiency spectrum and its regulation is of great importance to optimizing the biotechnological application of these beneficial microbes for sustainable crop protection.


Assuntos
Micorrizas , Imunidade Vegetal , Simbiose , Micorrizas/fisiologia , Plantas/imunologia , Plantas/microbiologia , Doenças das Plantas/microbiologia , Doenças das Plantas/imunologia
2.
Lupus ; : 9612033241283551, 2024 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-39259025

RESUMO

OBJECTIVES: To identify the predictive factors of first hospitalization and associated variables to the main causes of hospitalizations in lupus patients from a Latin American cohort. METHODS: The first hospitalization after entry into the cohort during these patients' follow-up due to either lupus disease activity and/or infection was examined. Clinical and therapeutic variables were those occurring prior to the first hospitalization. Descriptive statistical tests, multivariable logistic, and Cox regression models were performed. RESULTS: 1341 individuals were included in this analysis; 1200 (89.5%) were women. Their median and interquartile range (IQR) age at diagnosis were 27 (20-37) years and their median and IQR follow up time were 27.5 (4.7-62.2) months. A total of 456 (34.0%) patients were hospitalized; 344 (75.4%), 85 (18.6%) and 27 (5.9%) for disease activity, infections, or both, respectively. The predictors of the first hospitalization regardless of its cause were: medium (HR 2.03(1.27-3.24); p = 0.0028) and low (HR 2.42(1.55-3.79); p < 0.0001) socioeconomic status, serosal (HR 1.32(1.07-1.62); p = 0.0074) and renal (HR 1.50(1.23-1.82); p < 0.0001) involvement. Antimalarial (AM) use (HR 0.61(0.50-0.74); p < 0.0001) and achieving remission (HR 0.80(0.65-0.97); p = 0.0300) were negative predictors. CONCLUSIONS: The first hospitalization was associated with worse socioeconomic status and serosal and renal involvement. Conversely, AM use and achieving remission were associated with a lower risk of hospitalizations.

3.
ACS Catal ; 14(15): 11522-11531, 2024 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-39114085

RESUMO

The influence of surface morphology and the oxidation state on the electrocatalytic activity of nanostructured electrodes is well recognized, yet disentangling their individual roles in specific reactions remains challenging. Here, we investigated the electrooxidation of sulfite ions in an alkaline environment using cyclic voltammetry on copper oxide nanostructured electrodes with different oxidation states and morphologies but with similar active areas. To this aim, we synthesized nanostructured Cu films made of nanoparticles or nanorods on top of glassy carbon electrodes. Our findings showed an enhanced sensitivity and a lower detection threshold when utilizing Cu(I) over Cu(II). Density functional theory-based thermochemical analysis revealed the underlying oxidation mechanism, indicating that while the energy gain associated with the process is comparable for both oxide surfaces, the desorption energy barrier for the resulting sulfate molecules is three times higher on Cu(II). This becomes the limiting step of the reaction kinetics and diminishes the overall electrooxidation efficiency. Our proposed mechanism relies on the tautomerization of hydroxyl groups confined on the surface of Cu-based electrodes. This mechanism might be applicable to electrochemical reactions involving other sulfur compounds that hold technological significance.

4.
Curr Microbiol ; 81(10): 320, 2024 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-39174841

RESUMO

The presence of different mycotoxins in 232 tuber samples exhibiting dry rot symptoms and their associated Fusarium strains from two production sites in Algeria was investigated. LC-MS/MS was used to simultaneously detect and quantify 14 mycotoxins, including trichothecenes and non-trichothecenes. A total of 49 tubers were contaminated with at least one mycotoxins, including T-2, HT-2, Diacetoxyscirpenol (DAS), 15-acetoxyscirpenol (15-AS) and Beauvericin (BEA). Positive samples from the Bouira region had a significantly higher level of toxin contamination compared to Ain Defla (56.34% and 5.59%, respectively). A total of 283 Fusarium strains were isolated: 155 from Bouira and 128 from Ain Defla. These strains were evaluated for their ability to produce the targeted mycotoxins. The results showed that 61.29% and 53.9% of strains originate from Bouira and Ain Defla regions were able to produce Nivalenol, Fusarenone-X, DAS, 15-AS, Neosolaniol, BEA and Zearalenone. The phylogenetic analysis of the conserved ribosomal internal transcribed spacer (ITS) sequences of 29 Fusarium strains, representative of the recorded mycotoxins profiles, was distributed into 5 Fusarium species complexes (SC): F. incarnatum-equiseti SC (FIESC), F. sambucinum SC (FSAMSC), F. oxysporum SC (FOSC), F. tricinctum SC (FTSC) and F. redolens SC (FRSC). This is the first study determining multiple occurrences of mycotoxins contamination associated to Fusarium dry rot of potato in Algeria and highlights fungal potential for producing trichothecene and non-trichothecens mycotoxins.


Assuntos
Fusarium , Micotoxinas , Doenças das Plantas , Tubérculos , Solanum tuberosum , Fusarium/metabolismo , Fusarium/genética , Fusarium/classificação , Fusarium/isolamento & purificação , Fusarium/química , Argélia , Micotoxinas/metabolismo , Micotoxinas/análise , Solanum tuberosum/microbiologia , Doenças das Plantas/microbiologia , Tubérculos/microbiologia , Espectrometria de Massas em Tandem , Cromatografia Líquida , Filogenia
5.
Trends Plant Sci ; 2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-38972784

RESUMO

Beneficial microbes induce resistance in plants (MIR), imposing both lethal and sublethal effects on herbivorous insects. We argue that herbivores surviving MIR carry metabolic and immunological imprints of MIR with cascading effects across food webs. We propose that incorporating such cascading effects will strongly enhance the current MIR research framework.

7.
Mob DNA ; 15(1): 9, 2024 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-38704576

RESUMO

BACKGROUND: Biallelic variants in EYS are the major cause of autosomal recessive retinitis pigmentosa (arRP) in certain populations, a clinically and genetically heterogeneous disease that may lead to legal blindness. EYS is one of the largest genes (~ 2 Mb) expressed in the retina, in which structural variants (SVs) represent a common cause of disease. However, their identification using short-read sequencing (SRS) is not always feasible. Here, we conducted targeted long-read sequencing (T-LRS) using adaptive sampling of EYS on the MinION sequencing platform (Oxford Nanopore Technologies) to definitively diagnose an arRP family, whose affected individuals (n = 3) carried the heterozygous pathogenic deletion of exons 32-33 in the EYS gene. As this was a recurrent variant identified in three additional families in our cohort, we also aimed to characterize the known deletion at the nucleotide level to assess a possible founder effect. RESULTS: T-LRS in family A unveiled a heterozygous AluYa5 insertion in the coding exon 43 of EYS (chr6(GRCh37):g.64430524_64430525ins352), which segregated with the disease in compound heterozygosity with the previously identified deletion. Visual inspection of previous SRS alignments using IGV revealed several reads containing soft-clipped bases, accompanied by a slight drop in coverage at the Alu insertion site. This prompted us to develop a simplified program using grep command to investigate the recurrence of this variant in our cohort from SRS data. Moreover, LRS also allowed the characterization of the CNV as a ~ 56.4kb deletion spanning exons 32-33 of EYS (chr6(GRCh37):g.64764235_64820592del). The results of further characterization by Sanger sequencing and linkage analysis in the four families were consistent with a founder variant. CONCLUSIONS: To our knowledge, this is the first report of a mobile element insertion into the coding sequence of EYS, as a likely cause of arRP in a family. Our study highlights the value of LRS technology in characterizing and identifying hidden pathogenic SVs, such as retrotransposon insertions, whose contribution to the etiopathogenesis of rare diseases may be underestimated.

8.
Biomedicines ; 12(4)2024 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-38672215

RESUMO

Infective endocarditis (IE) is a major public health condition due to the associated high morbidity and mortality. Our objective was to evaluate the utility of dual-time 2-deoxy-2-[18F] fluoro-D-glucose (18F-FDG) Positron Emission Tomography/Computed Tomography (PET/CT) imaging in the diagnosis of active IE in patients with suspected native valve endocarditis (NVE) and prosthetic valve endocarditis (PVE). For this purpose, a retrospective study was carried out, including patients suspicious of NVE or PVE who underwent a dual-time-point 18F-FDG PET/CT. A final diagnosis was established by the Endocarditis Team after patient follow-up using all the available findings. Sixty-nine patients were assessed. A final diagnosis of NVE was established in 3 patients of the 34 by 18F-FDG PET/CT and in the case of PVE was established in 20 patients of the 35. A statistically significant association was found when evaluating the association between PET diagnosis at early acquisition and final diagnosis of IE (χ2 = 30.198, p < 0.001) and PET diagnosis at delayed acquisition for final diagnosis of IE (χ2 = 9.412, p = 0.002). Delayed PET/CT imaging determined the IE diagnosis in 16/58 of the studies. In conclusion, delayed 18F-FDG PET/CT imaging seems to be useful in improving the definitive diagnosis of IE.

9.
Animals (Basel) ; 14(6)2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38539936

RESUMO

Livestock predation induces global human-wildlife conflict, triggering the retaliatory killing of large carnivores. Although domestic dogs (Canis familiaris) contribute to livestock depredation, blame primarily falls on wild predators. Dogs can also transmit pathogens between wildlife, domestic animals, and humans. Therefore, the presence of free-ranging dogs can have negative consequences for biodiversity conservation, smallholder economy, food supply, and public health, four of the United Nations' Sustainable Developed Goals (SDGs) for 2030. In Ecuador, where livestock sustains rural households, retaliatory poaching threatens Andean bear (Tremarctos ornatus), jaguar (Panthera onca), and puma (Puma concolor) populations. However, the role of dogs in these incidents remains underexplored. The present study evaluates the possibility of reliable molecular identification of predatory species from DNA traces in bite wounds. Our results revealed the presence of dog saliva on four out of six livestock carcasses presumably attacked by wild predators. These findings highlight the importance of rectifying misinformation about large carnivores in Ecuador and the need to control dog populations. We recommend that local administrations incorporate DNA analysis into livestock predation events to examine how common the problem is, and to use the analysis to develop conflict mitigation strategies which are essential for the conservation of large carnivores.

10.
PNAS Nexus ; 3(3): pgae027, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38510978

RESUMO

We show that zinc finger imprinted 3 (Zim3), when used as Zim3-KRAB-dCas9 effector in interference CRISPR, without any guide RNAs, paradoxically up-regulates key cardiac ion channel genes in human-induced pluripotent stem-cell-derived cardiomyocytes (iPSC-CMs), responsible for healthy resting membrane potential, repolarization of the action potential, and electrical transmission of signals. These were found to yield expected functional enhancements consistent with a more mature iPSC-CM phenotype, with potentially desirable properties.

11.
Clin Nucl Med ; 49(5): e230-e232, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38350081

RESUMO

ABSTRACT: A 79-year-old man presented with a palpable left axillary mass and ultrasonography findings of conglomerate lymph nodes. The initial clinical suspicion was a lymphoproliferative disorder, but histopathological results revealed a grade 3 neuroendocrine tumor. The mass showed somatostatin receptor overexpression in 99m Tc-HYNIC-TOC scintigraphy and high uptake in 18 F-FDG PET/CT. Bilateral hypermetabolic adrenal nodes suggestive of metastases were also detected. The patient was treated with chemotherapy and immunotherapy, and PET/CT scan showed a partial metabolic response after 4 cycles. According to this case, neuroendocrine tumor should be considered in the differential diagnosis of axillary masses.


Assuntos
Tumores Neuroendócrinos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Masculino , Humanos , Idoso , Tumores Neuroendócrinos/diagnóstico por imagem , Tumores Neuroendócrinos/patologia , Tomografia por Emissão de Pósitrons , Cintilografia , Linfonodos/patologia
12.
Lupus ; 33(4): 340-346, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38334100

RESUMO

BACKGROUND: Systemic lupus erythematosus (SLE) often mimics symptoms of other diseases, and the interval between symptom onset and diagnosis may be long in some of these patients. Aims: To describe the characteristics associated with the time to SLE diagnosis and its impact on damage accrual and mortality in patients with SLE from a Latin American inception cohort. METHODS: Patients were from a multi-ethnic, multi-national Latin-American SLE inception cohort. All participating centers had specialized lupus clinics. Socio-demographic, clinical/laboratory, disease activity, damage, and mortality between those with a longer and a shorter time to diagnosis were compared using descriptive statistical tests. Multivariable Cox regression models with damage accrual and mortality as the end points were performed, adjusting for age at SLE diagnosis, gender, ethnicity, level of education, and highest dose of prednisone for damage accrual, plus highest dose of prednisone, baseline SLEDAI, and baseline SDI for mortality. RESULTS: Of the 1437 included in these analyses, the median time to diagnosis was 6.0 months (Q1-Q3 2.4-16.2); in 721 (50.2%) the time to diagnosis was longer than 6 months. Patients whose diagnosis took longer than 6 months were more frequently female, older at diagnosis, of Mestizo ethnicity, not having medical insurance, and having "non-classic" SLE symptoms. Longer time to diagnosis had no impact on either damage accrual (HR 1.09, 95% CI 0.93-1.28, p = 0.300) or mortality (HR 1.37, 95% CI 0.88-2.12, p = 0.200). CONCLUSIONS: In this inception cohort, a maximum time of 24 months with a median of 6 months to SLE diagnosis had no apparent negative impact on disease outcomes (damage accrual and mortality).


Assuntos
Lúpus Eritematoso Sistêmico , Feminino , Humanos , Progressão da Doença , Hispânico ou Latino , América Latina/epidemiologia , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/complicações , Prednisona/uso terapêutico , Índice de Gravidade de Doença , Masculino
13.
Sci Rep ; 14(1): 2834, 2024 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-38310153

RESUMO

Wildlife conservation in Andean countries is a global priority because of the high levels of biodiversity and endemism. Historically, these countries have had limited resources to monitor wildlife (e.g., through genetic tools) and establish conservation programs. Focusing on the study and emblematic use of a few charismatic species has been a strategic approach to direct efforts for conservation and development planning. Consequently, the Andean bear is a flagship and umbrella species for highly biodiverse Andean countries like Ecuador. The few studies exploring the population genetics of this species have concluded that it has low genetic diversity and few units for conservation as populations appear to be well connected. However, these results might be attributed to ascertainment bias as studies have been performed with heterologous molecular markers. Here, using both mtDNA sequences and species-specific microsatellite markers, we show that Andean bears in Ecuador have population structure. Additionally, we found through the study of three Ecuadorian populations that the species might have a higher genetic diversity than we previously thought. These results could support the revision of research priorities, conservation, and planning strategies to improve connectivity for this species which occurs in crucial biodiversity hotspots.


Assuntos
Ursidae , Animais , Equador , Ursidae/genética , Genética Populacional , Biodiversidade , Conservação dos Recursos Naturais , Variação Genética
14.
FEMS Microbiol Ecol ; 100(2)2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38331428

RESUMO

Various studies have addressed the impact of microbial inoculants on the composition of the resident microbiome. How microbial inoculants impact plant metabolism and interact with the resident rhizobiota under herbivory stress remains elusive. Here, we investigated the impact of two bacterial and two fungal inoculants, inoculated as single species and as a synthetic community, on the rhizosphere microbiome and volatilome of tomato plants (Solanum lycopersicum) comparing nonstress conditions to exposed to leaf herbivory by Spodoptera exigua. Based on amplicon sequencing analysis, rhizobacterial community composition was significantly affected by all four inoculants and the magnitude of this effect was dependent on herbivory stress. Fungal community composition was altered by the microbial inoculants but independent of herbivory stress. The rhizosphere volatilome was impacted by the microbial inoculation and differences between treatments were evened under herbivory stress. Each microbial inoculant caused unique changes in the volatilome of stressed plants but also shared similar responses, in particular the enhanced production of dimethyl disulfide and benzothiazole. In conclusion, the introduction of microbial inoculants in the tomato rhizosphere caused unique as well as common changes in the rhizosphere microbiome and volatilome, but these changes were minor compared to the microbiome changes induced by herbivory stress.


Assuntos
Inoculantes Agrícolas , Microbiota , Solanum lycopersicum , Rizosfera , Herbivoria , Microbiologia do Solo , Bactérias/genética
15.
Endocrinol Diabetes Nutr (Engl Ed) ; 71(1): 4-11, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38388076

RESUMO

INTRODUCTION: Patients with incomplete response to initial therapy of thyroid cancer can be managed with ongoing observation or potentially additional therapies. Our aim was to assess the effect of a second radioactive iodine treatment (RAIT) and its relationship with causes and clinical variables. MATERIAL AND METHODS: Patients undergoing a second RAIT for biochemical or structural incomplete response to initial therapy of DTC were retrospectively included (n=120). They were categorised based on the American Thyroid Association (ATA) classification of response to initial therapy. Patients were reclassified in the following 6-18 months after second RAIT based on imaging findings and measurements of thyroglobulin and antithyroglobulin antibody levels. The associations of a downgrading of response category and progression-free survival (PFS), and the related variables, were evaluated. RESULTS: Sixty-six patients (55%) had a downgrading on ATA response category after second RAIT. A significant interdependence of causes for second RAIT and outcomes was found (χ2=29.400, p=0.001), with patients with neck reoperation showing a higher rate of indeterminate or excellent responses. A significant association between ATA response to second RAIT and absence of structural progression was found (χ2=44.914, p<0.001), with less structural progression in patients with downgrading on ATA response (χ2=30.914, p<0.001). There was also significant interdependence to some clinical variables, such as AJCC stage (χ2=8.460, p=0.015), ATA risk classification (χ2=10.694, p=0.005) and initial N stage (χ2=8.485, p=0.004). CONCLUSIONS: In selected cases, a second RAIT could lead to more robust responses with a potential improvement in prognosis in patients with incomplete response to initial DTC treatment.


Assuntos
Adenocarcinoma , Neoplasias da Glândula Tireoide , Humanos , Estados Unidos , Neoplasias da Glândula Tireoide/cirurgia , Radioisótopos do Iodo/uso terapêutico , Estudos Retrospectivos , Tireoidectomia
16.
Clin Nucl Med ; 49(3): e115-e117, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38271259

RESUMO

ABSTRACT: A 69-year-old man with suspected gastrointestinal stromal tumor was referred to 18 F-FDG PET/CT. Images showed increased metabolism in a jejunal wall thickening, 2 liver lesions, and hepatic lymph nodes. The patient underwent wedge biopsy of the liver, which revealed inflammatory pseudotumor. The patient was treated with 20 mg/d prednisone, with a gradual dose reduction. A partial metabolic response was achieved after 2 months of therapy, and a final PET/CT showed complete metabolic response after 9 months. This clinical case shows the potential role of PET/CT in the assessment of the response of the inflammatory pseudotumor to corticosteroid therapy.


Assuntos
Granuloma de Células Plasmáticas , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Masculino , Humanos , Idoso , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Fluordesoxiglucose F18 , Granuloma de Células Plasmáticas/diagnóstico por imagem , Granuloma de Células Plasmáticas/tratamento farmacológico , Tomografia por Emissão de Pósitrons , Corticosteroides/uso terapêutico
17.
Heliyon ; 10(1): e22940, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38187344

RESUMO

Weather and Climate Information Services are increasingly used worldwide to facilitate the provision of information to their intended users. Despite this, the definition, classification and evaluation of climate services remains highly debated, particularly regarding user engagement. High forms of user engagement like co-production and co-creation are the least understood. This study looks at three case studies to clarify the current understanding of user engagement in climate services. The research identifies explicit and implicit conceptualizations of user engagement by service providers and characterizes their implementation. The study confirms the current lack of clarity for providers regarding the terminology used to describe user engagement in climate services, which calls for a different understanding of user engagement that allows to better embrace its complexity. Furthermore, our findings reveal that the highest form of user engagement occurred in the case study where there was a shared understanding of how service providers conceptualized user engagement. This conceptualization was aligned with the actual user engagement strategies implemented in the project. This stresses the importance of a shared understanding of user engagement terminology. Finally, the same service is often found to have implemented different user engagement levels at different stages and for different elements of the products. This brings up the issue of how to best describe user engagement in such situations. We recommend embracing the multi-faceted nature of user engagement in climate services by characterizing different elements and stages differently.

18.
Foods ; 12(24)2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-38137218

RESUMO

The commercialisation of fresh-cut artichokes with optimal quality and appearance and a maximum shelf-life is a great challenge for the artichoke market. The use of different anti-browning agents has been previously studied; however, their effect is still limited. Therefore, the objective of this study is the evaluation of the effect of L-cysteine and, in combination with a mixture of essential oils components (eugenol, thymol and carvacrol) on browning, quality and bioactive compounds of fresh-cut artichokes stored for 9 days at 2 °C. Four different treatments were applied to 'Blanca de Tudela' fresh-cut artichokes: cysteine and cysteine with 75, 150 and 300 µL of the essential oils components (EOs) mixture. After 2, 4 and 9 days of storage, physicochemical parameters (weight loss, colour, respiration rate) and functional (total phenolic content, antioxidant activity) were studied. A descriptive sensorial analysis was also carried out to evaluate sensory attributes. Results showed that the application of cysteine and 150 µL of EOs displayed the lowest browning and highest antioxidant properties, as well as the best quality and sensory parameters. The use of this post-harvest treatment on fresh-cut artichokes would result in a natural and eco-friendly solution to improve artichoke quality and shelf-life.

19.
Int J Mol Sci ; 24(21)2023 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-37958660

RESUMO

High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds -6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance.


Assuntos
Miopia , Criança , Humanos , Sequenciamento do Exoma , Miopia/genética
20.
Biodivers Data J ; 11: e113396, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38028240

RESUMO

Studies on genetic variability amongst native and introduced species contribute to a better understanding of the genetic diversity of species along their autochthonous distribution and identify possible routes of introduction. Gonatodescaudiscutatus is a gecko native to western Ecuador and introduced to the Galapagos Islands. Despite being a successful species in human-modified habitats along its native and non-native ranges, neither the colonisation process nor the genetic diversity of this gecko is known. In this study, we analysed 55 individuals from 14 localities in western Ecuador and six localities in San Cristobal Island, Galapagos - the only island with a large, self-sustaining population. We amplified and analysed the genetic variability of two nuclear genes (Cmos and Rag2) and one mitochondrial gene (16S). Cmos and Rag2 sequences presented little to none genetic variability, while 16S allowed us to build a haplotype network. We identified nine haplotypes across mainland Ecuador, two of which are also present in Galapagos. Low genetic diversity between insular and continental populations suggests that the introduction of G.caudiscutatus on the Islands is relatively recent. Due to the widespread geographical distribution of mainland haplotypes, it was not possible to determine the source population of the introduction. This study represents the first exploration of the genetic diversity of Gonatodescaudiscutatus, utilising genetic tools to gain insights into its invasion history in the Galapagos.

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