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1.
Mol Biol Evol ; 40(8)2023 08 03.
Artigo em Inglês | MEDLINE | ID: mdl-37565532

RESUMO

The masking theory states that genes expressed in a haploid stage will be under more efficient selection. In contrast, selection will be less efficient in genes expressed in a diploid stage, where the fitness effects of recessive deleterious or beneficial mutations can be hidden from selection in heterozygous form. This difference can influence several evolutionary processes such as the maintenance of genetic variation, adaptation rate, and genetic load. Masking theory expectations have been confirmed in single-cell haploid and diploid organisms. However, in multicellular organisms, such as plants, the effects of haploid selection are not clear-cut. In plants, the great majority of studies indicating haploid selection have been carried out using male haploid tissues in angiosperms. Hence, evidence in these systems is confounded with the effects of sexual selection and intraspecific competition. Evidence from other plant groups is scarce, and results show no support for the masking theory. Here, we have used a gymnosperm Scots pine megagametophyte, a maternally derived seed haploid tissue, and four diploid tissues to test the strength of purifying selection on a set of genes with tissue-specific expression. By using targeted resequencing data of those genes, we obtained estimates of genetic diversity, the site frequency spectrum of 0-fold and 4-fold sites, and inferred the distribution of fitness effects of new mutations in haploid and diploid tissue-specific genes. Our results show that purifying selection is stronger for tissue-specific genes expressed in the haploid megagametophyte tissue and that this signal of strong selection is not an artifact driven by high expression levels.


Assuntos
Evolução Biológica , Seleção Genética , Haploidia , Mutação , Diploide , Plantas
2.
Plant J ; 109(5): 1337-1350, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34897859

RESUMO

Pinus sylvestris (Scots pine) is the most widespread coniferous tree in the boreal forests of Eurasia, with major economic and ecological importance. However, its large and repetitive genome presents a challenge for conducting genome-wide analyses such as association studies, genetic mapping and genomic selection. We present a new 50K single-nucleotide polymorphism (SNP) genotyping array for Scots pine research, breeding and other applications. To select the SNP set, we first genotyped 480 Scots pine samples on a 407 540 SNP screening array and identified 47 712 high-quality SNPs for the final array (called 'PiSy50k'). Here, we provide details of the design and testing, as well as allele frequency estimates from the discovery panel, functional annotation, tissue-specific expression patterns and expression level information for the SNPs or corresponding genes, when available. We validated the performance of the PiSy50k array using samples from Finland and Scotland. Overall, 39 678 (83.2%) SNPs showed low error rates (mean = 0.9%). Relatedness estimates based on array genotypes were consistent with the expected pedigrees, and the level of Mendelian error was negligible. In addition, array genotypes successfully discriminate between Scots pine populations of Finnish and Scottish origins. The PiSy50k SNP array will be a valuable tool for a wide variety of future genetic studies and forestry applications.


Assuntos
Pinus sylvestris , Traqueófitas , Estudo de Associação Genômica Ampla , Genótipo , Pinus sylvestris/genética , Melhoramento Vegetal , Polimorfismo de Nucleotídeo Único/genética , Traqueófitas/genética
3.
PeerJ ; 9: e11781, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34466281

RESUMO

Despite their ecological and economical importance, conifers genomic resources are limited, mainly due to the large size and complexity of their genomes. Additionally, the available genomic resources lack complete structural and functional annotation. Transcriptomic resources have been commonly used to compensate for these deficiencies, though for most conifer species they are limited to a small number of tissues, or capture only a fraction of the genes present in the genome. Here we provide an atlas of gene expression patterns for conifer Pinus sylvestris across five tissues: embryo, megagametophyte, needle, phloem and vegetative bud. We used a wide range of tissues and focused our analyses on the expression profiles of genes at tissue level. We provide comprehensive information of the per-tissue normalized expression level, indication of tissue preferential upregulation and tissue-specificity of expression. We identified a total of 48,001 tissue preferentially upregulated and tissue specifically expressed genes, of which 28% have annotation in the Swiss-Prot database. Even though most of the putative genes identified do not have functional information in current biological databases, the tissue-specific patterns discovered provide valuable information about their potential functions for further studies, as for example in the areas of plant physiology, population genetics and genomics in general. As we provide information on tissue specificity at both diploid and haploid life stages, our data will also contribute to the understanding of evolutionary rates of different tissue types and ploidy levels.

4.
New Phytol ; 229(5): 3009-3025, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33098590

RESUMO

Understanding the dynamics of selection is key to predicting the response of tree species to new environmental conditions in the current context of climate change. However, selection patterns acting on early recruitment stages and their climatic drivers remain largely unknown in most tree species, despite being a critical period of their life cycle. We measured phenotypic selection on Pinus sylvestris seed mass, emergence time and early growth rate over 2 yr in four common garden experiments established along the latitudinal gradient of the species in Europe. Significant phenotypic plasticity and among-population genetic variation were found for all measured phenotypic traits. Heat and drought negatively affected fitness in the southern sites, but heavy rainfalls also decreased early survival in middle latitudes. Climate-driven directional selection was found for higher seed mass and earlier emergence time, while the form of selection on seedling growth rates differed among sites and populations. Evidence of adaptive and maladaptive phenotypic plasticity was found for emergence time and early growth rate, respectively. Seed mass, emergence time and early growth rate have an adaptive role in the early stages of P. sylvestris and climate strongly influences the patterns of selection on these fitness-related traits.


Assuntos
Pinus sylvestris , Pinus , Mudança Climática , Europa (Continente) , Fenótipo , Pinus sylvestris/genética , Temperatura
5.
Mol Phylogenet Evol ; 137: 156-167, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31075505

RESUMO

Detarioideae is well known for its high diversity of floral traits, including flower symmetry, number of organs, and petal size and morphology. This diversity has been characterized and studied at higher taxonomic levels, but limited analyses have been performed among closely related genera with contrasting floral traits due to the lack of fully resolved phylogenetic relationships. Here, we used four representative transcriptomes to develop an exome capture (target enrichment) bait for the entire subfamily and applied it to the Anthonotha clade using a complete data set (61 specimens) representing all extant floral diversity. Our phylogenetic analyses recovered congruent topologies using ML and Bayesian methods. Anthonotha was recovered as monophyletic contrary to the remaining three genera (Englerodendron, Isomacrolobium and Pseudomacrolobium), which form a monophyletic group sister to Anthonotha. We inferred a total of 35 transitions for the seven floral traits (pertaining to flower symmetry, petals, stamens and staminodes) that we analyzed, suggesting that at least 30% of the species in this group display transitions from the ancestral condition reconstructed for the Anthonotha clade. The main transitions were towards a reduction in the number of organs (petals, stamens and staminodes). Despite the high number of transitions, our analyses indicate that the seven characters are evolving independently in these lineages. Petal morphology is the most labile floral trait with a total of seven independent transitions in number and seven independent transitions to modification in petal types. The diverse petal morphology along the dorsoventral axis of symmetry within the flower is not associated with differences at the micromorphology of petal surface, suggesting that in this group all petals within the flower might possess the same petal identity at the molecular level. Our results provide a solid evolutionary framework for further detailed analyses of the molecular basis of petal identity.


Assuntos
Biodiversidade , Fabaceae/genética , Flores/anatomia & histologia , Genômica , Filogenia , Teorema de Bayes , Fabaceae/anatomia & histologia , Flores/ultraestrutura , Fenótipo , Epiderme Vegetal/anatomia & histologia , Epiderme Vegetal/ultraestrutura
6.
Ginecol. obstet. Méx ; 87(1): 26-35, ene. 2019. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1154268

RESUMO

Resumen OBJETIVO: Evaluar si la combinación de la sonda Foley transcervical con oxitocina intravenosa, como método para inducción del parto en pacientes con cesárea previa, es más efectiva que la oxitocina sola para alcanzar una fase activa del trabajo de parto y, por consiguiente, incrementar la frecuencia de partos. MATERIALES Y MÉTODOS: Estudio de casos y controles efectuado en el Centro Hospitalario Nuevo Sanatorio Durango del 1 de marzo de 2017 al 31 de marzo de 2018. Criterios de inclusión: edad gestacional mayor o igual a 37 semanas, cesárea previa con incisión transversal baja (Kerr), embarazo único, feto en presentación cefálica. Se crearon dos grupos: A: inducción del parto con oxitocina intravenosa y B: inducción con sonda Foley transcervical y oxitocina. Las variables categóricas se describieron con frecuencias y porcentajes, y las numéricas con media (±), desviación estándar o mediana. Se utilizó la prueba de Kolmogorov-Smirnov y t de Student y se consideró estadísticamente significativo un valor de p < 0.05. RESULTADOS: Se estudiaron 50 pacientes; en el grupo A 16/25 lograron una fase activa del trabajo de parto y 14/25 tuvieron parto vaginal. En el grupo B 25/25 alcanzaron la fase activa y 17/25 tuvieron parto vaginal (p > 0.05; IC95%: 0.16-0.4). El tiempo del trabajo de parto fue: grupo A con una media de 17.11 horas y en el grupo B de 12.44 (p < 0.05; IC95%: 2.4-6.2 y 2.4-6.3, respectivamente). CONCLUSIONES: Por lo menos en la muestra estudiada la combinación de sonda Foley transcervical con oxitocina demostró ser sumamente eficaz y segura para la inducción del trabajo de parto en pacientes con cesárea previa; se consiguió disminuir significativamente el tiempo de trabajo de parto y aumentar la frecuencia de pacientes que logran llegar a una fase activa del trabajo de parto.


Abstract OBJECTIVE: To evaluate whether the combination of transcervical Foley catheter with intravenous oxytocin as a method for induction of labor in patients with previous caesarean section is more effective than using only intravenous oxytocin in achieving an active phase of labor and therefore increasing the frequency of vaginal delivery. MATERIALS AND METHODS: Case-control study performed at the Nuevo Sanatorio Durango Hospital Center from March 1, 2017 to March 31, 2018. Case-control study carried out at the New Sanatorio Durango Hospital Center from March 1, 2017 to March 31, 2018. Inclusion criteria: gestational age greater than or equal to 37 weeks, previous caesarean section with low transverse incision (Kerr), pregnancy unique, fetus in cephalic presentation. Two groups were created: group A, induction of labor with intravenous oxytocin and group B induction with transcervical foley plus oxytocin. The categorical variables are described with percentages and percentages, and the numerical variables with means ± standard deviation or median. The Kolmogorov-Smirnov test and Student's t test were used; A value of p <0.05 was considered statistically significant. RESULTS: Patients were studied, in group A of 25 patients, 16/25 achieved an active phase of labor and 14/25 had vaginal resolution; group B of 25 patients, 25/25 reached the active phase and 17/25 had vaginal resolution, we obtained a value of p > 0.05 (95%CI: 0.16-0.4). The time in labor hours: group A with an average of 17.11 hours and in group B of 12.44, p value < 0.05 (95%CI: 2.4-6.2 and 2.4-6.3). CONCLUSIONS: The combination of transcervical Foley catheter with oxytocin proved to be highly effective and safe for the induction of labor in patients with a previous caesarean section, significantly reducing labor time and increasing the frequency of patients who achieve an active dose of labor.

7.
Ginecol. obstet. Méx ; 87(7): 447-453, ene. 2019. tab
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1286643

RESUMO

Resumen OBJETIVO: Estimar la prevalencia de desgarro perineal en pacientes a quienes se aplicó vacuum e identificar los factores de riesgo de lesión del esfínter anal. MATERIALES Y MÉTODOS: Estudio descriptivo, transversal, retrospectivo y observacional. Se seleccionaron todos los partos en los que se aplicó vacuum del total de partos instrumentados en un hospital de segundo nivel de la Ciudad de México. Se incluyeron mujeres con embarazo de término, únicos y de evolución normal. Las lesiones perineales se clasificaron según la OMS. Se calcularon la prevalencia y el intervalo de confianza. Las variables se describen mediante medias y desviaciones estándar o frecuencias absolutas y relativas. Los desgarros se compararon con χ22 y los valores con significación estadística fueron los de p < 0.05. RESULTADOS: Se estudiaron 74 partos instrumentados en 708 partos totales, de los que 70 de 74 fueron con vacuum. En relación solo con estos últimos, los desgarros más prevalentes fueron de primer y segundo grado con valores de 40.0% (IC95%: 29-51) y 38.6% (IC95%: 27-50), respectivamente. No se identificaron factores de riesgo asociados con desgarros perineales severos. CONCLUSIONES: La prevalencia en la población estudiada fue similar a la de países industrializados y los desgarros moderados fueron los de mayor prevalencia.


Abstract OBJECTIVES: To estimate the prevalence of perineal tears in patients which delivery was instrumented by vacuum and to identify the risk factors that lead to a tear in the anal sphincter. MATERIAL AND METHOD: Descriptive, cross-sectional, retrospective and observational study. All vacuum deliveries were selected among the instrumental deliveries of the population in a secondary care hospital in Mexico City. The inclusion criteria were women who delivered vaginally at term with sole and normoevolutive pregnancies. The perineal tears were classified according to WHO. The statistical analysis included the estimation of prevalences with their corresponding confidence intervals. Variables were described by means and standard deviations or absolute and relative frequencies. Tears were compared using χ2 tests considering a statistical significance of p < 0.05. RESULTS: The number of instrumented deliveries was 74 out of 708 cases of total deliveries, those with vacuum were 70 out of 74. Considering the instrumented deliveries with vacuum, the most prevalent tears were those of first and second degree with values of 40.0% (CI 29-51) and 38.6% (CI 27-50) respectively. There were not associated risk factors to severe perineal tears. CONCLUSIONS: Prevalence in the studied population was similar to developed countries and moderate tears are the most prevalent.

8.
PLoS One ; 11(8): e0160878, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27513667

RESUMO

Preventing the introduction and establishment of forest invasive alien species (FIAS) such as the Asian gypsy moth (AGM) is a high-priority goal for countries with extensive forest resources such as Canada. The name AGM designates a group of closely related Lymantria species (Lepidoptera: Erebidae: Lymantriinae) comprising two L. dispar subspecies (L. dispar asiatica, L. dispar japonica) and three closely related Lymantria species (L. umbrosa, L. albescens, L. postalba), all considered potential FIAS in North America. Ships entering Canadian ports are inspected for the presence of suspicious gypsy moth eggs, but those of AGM are impossible to distinguish from eggs of innocuous Lymantria species. To assist regulatory agencies in their identification of these insects, we designed a suite of TaqMan® assays that provide significant improvements over existing molecular assays targeting AGM. The assays presented here can identify all three L. dispar subspecies (including the European gypsy moth, L. dispar dispar), the three other Lymantria species comprising the AGM complex, plus five additional Lymantria species that pose a threat to forests in North America. The suite of assays is built as a "molecular key" (analogous to a taxonomic key) and involves several parallel singleplex and multiplex qPCR reactions. Each reaction uses a combination of primers and probes designed to separate taxa through discriminatory annealing. The success of these assays is based on the presence of single nucleotide polymorphisms (SNPs) in the 5' region of mitochondrial cytochrome c oxidase I (COI) or in its longer, 3' region, as well as on the presence of an indel in the "FS1" nuclear marker, generating North American and Asian alleles, used here to assess Asian introgression into L. dispar dispar. These assays have the advantage of providing rapid and accurate identification of ten Lymantria species and subspecies considered potential FIAS.


Assuntos
Espécies Introduzidas , Mariposas/genética , Animais , Complexo IV da Cadeia de Transporte de Elétrons/química , Marcadores Genéticos , Mariposas/classificação , América do Norte , Reação em Cadeia da Polimerase/métodos , Polimorfismo de Nucleotídeo Único , Especificidade da Espécie
9.
Rev Invest Clin ; 63 Suppl 1: 30-7, 2011 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-22916608

RESUMO

INTRODUCTION: Miguel Hidalgo Hospital in Aguascalientes is dependent from the Federal Secretary of Health and operates in integrity with State health system in Aguascalientes. It capacity is based on 132 censored beds and 71 no censored beds. Is considered a specialty hospital in the region of Bajío. Renal transplant program activity was initiated in 1990 and gives care for adult and pediatric population. MATERIAL AND METHODS: Retrospective, comparative and longitudinal study to describe and analyze our experience. Data base and clinical charts of renal transplant recipients were reviewed. Age, gender, date of transplant, etiology of renal disease, type of donor, HLA compatibility and PRA, immunosuppressive therapy, acute rejection, serum creatinina, graft loss and mortality were registered. Statistical analysis included 2, unpaired Student T test and Kaplan-Meier survival analysis with Log Rank test. Cox Analysis was also done. RESULTS: 1050 renal transplants were done from November 1990 to June 2011. 50 were excluded because follow-up was not longer than 3 months. 1000 consecutive renal transplant patients from January 1995 to June 2011 were included for analysis. Patients were divided in 2 groups: group A transplanted January 1995 to December 2004; group B transplanted January 2005 to June 2011. Etiology for end stage renal disease is unknown in 61% of cases, 11% developed renal disease to diabetes mellitus. 93% patient survival was observed at median follow-up and 84.9% graft survival at median follow-up (6 years). Biopsy proven acute rejection in group A 19.9 vs. 10% in group B. Two haplotype matching shows 92% graft survival. Diabetic patients exhibit 73% graft survival vs. other as hypertension (87%). PRA >0 and serum creatinine > 2.0 mg/dL increase risk for graft loss according to Cox analysis. CONCLUSION. Results are comparable to international data. Importance of developing regional transplant centers is emphasized.


Assuntos
Transplante de Rim/estatística & dados numéricos , Adulto , Feminino , Hospitais , Humanos , Estudos Longitudinais , Masculino , México , Estudos Retrospectivos
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