Loss of Aggressiveness of Phytophthora cinnamomi (Beta-Cinnamomin Silenced Strain) in the Infection of Castanea sativa

Several forest species are severely affected by Phytophthora cinnamomi. The contribution of this oomycete to forest decline and dieback has been broadly reported. In particular, it is consensual that it is the causal agent of ink disease in Castanea sativa. It has been associated with the severe decline of Quercus species, namely the Q. suber and Q. ilex dieback in Portugal and Spain, and has been responsible for the infection of numerous native species and crops. This pathogen persists in the soil or on plant material in the form of chlamydospores allowing the infection of living root tissues when environmental conditions are favorable. © Microscopy Society of America 2012

Pre-harvest rindstain of ‘Encore’ mandarin: initial histological signs of epicarp disturbance and extent of the disorder

Pre-harvest rindstain in ‘Encore’ mandarin starts by the injury of a few epidermal cells. The connection between the damaged epidermis and the collapsed layers of flavedo, extending in parallel with rind surface was only visible on cross-sections containing the narrow zone of injured epidermal cells. The individual cell alteration including loss of membrane integrity and the accumulation of large amounts of osmiophilic materials in the cytoplasm are the result of a degrading process. Minute disruptions in the cuticle may provide shelters for resting forms of amoeboid or plasmodial-like organisms living on the rind. Our results suggest that these organisms could be involved in the disorder expression.FCT—Fundação para a Ciência e Tecnologi

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID-associated genes using targeted next-generation sequencing. Likely pathogenic rare variants were found in ∼11% of the cases (113 variants in 107/986 individuals: ∼8% of the individuals had a likely pathogenic loss-of-function [LoF] variant, whereas ∼3% had a known pathogenic missense variant). Variants in SETD5, ATRX, CUL4B, MECP2, and ARID1B were the most common causes of ID. This study assessed the value of sequencing a cohort of probands to provide a molecular diagnosis of ID, without the availability of DNA from both parents for de novo sequence analysis. This modeling is clinically relevant as 28% of all UK families with dependent children are single parent households. In conclusion, to diagnose patients with ID in the absence of parental DNA, we recommend investigation of all LoF variants in known genes that cause ID and assessment of a limited list of proven pathogenic missense variants in these genes. This will provide 11% additional diagnostic yield beyond the 10%-15% yield from array CGH alone.Action Medical Research (SP4640); the Birth Defect Foundation (RG45448); the Cambridge National Institute for Health Research Biomedical Research Centre (RG64219); the NIHR Rare Diseases BioResource (RBAG163); Wellcome Trust award WT091310; The Cell lines and DNA bank of Rett Syndrome, X-linked mental retardation and other genetic diseases (member of the Telethon Network of Genetic Biobanks (project no. GTB12001); the Genetic Origins of Congenital Heart Disease Study (GO-CHD)- funded by British Heart Foundation (BHF)This is the final version of the article. It first appeared from Wiley via http://dx.doi.org/10.1002/humu.2290

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

<p>Abstract</p> <p>Background</p> <p>Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D₃(1,25(OH)₂D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the <it>PHEX </it>gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies.</p> <p>Methods</p> <p>Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the <it>PHEX </it>gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test.</p> <p>Results</p> <p>Mutations in the <it>PHEX </it>gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)₂D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013).</p> <p>Conclusions</p> <p><it>PHEX </it>gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious <it>PHEX </it>mutations had lower TRP and 1,25(OH)₂D levels suggesting that the <it>PHEX </it>type of mutation might predict the XLHR phenotype severity.</p

Controlo da dormência na pereira "Rocha" por aplicação de um indutor de quebra de dormência em condições de "falta de frio"

A falta de frio no Inverno é um problema da fruticultura em certas regiões de Portugal. Os Invernos suaves causam irregularidades na floração e frutificação, tendo graves consequências no rendimento económico dos pomares. Justifica-se que em tais condições se recorra a indutores de quebra de dormência para atenuar os efeitos da falta de frio. Neste trabalho foi avaliado entre 2002 e 2004 o efeito da cianamida hidrogenada (Dormex) em várias concentrações e datas de aplicação, num pomar de pereira”Rocha” avaliado através do estudo citológico das anteras a fim de determinar o início da microsporogénese, a qual coincide com a quebra de dormência. Nos Invernos suaves (com acumulação de frio inferior a 800 c.u.) a aplicação de 1% e 2,5% Dormex em meados de Janeiro avançou 7 a 18 dias a quebra de dormência, concentrando a floração na pereira “Rocha”

Studies on the association of the Quercus suber decline disease with Phytophthora cinnamomi in Portugal.

In Portugal, the decline disease has been described in evergreen oaks (Quercus suber L. and Q.ilex subsp. rotundifolia Lam.) since the end of the 19th century. The mortality of these species affects, particularly the central and southern regions of the country, being one of the most severe forest problems. Phytophthora cinnamomi Rands is the main pathogen responsible for the cork and holm oak mortality in Portugal. Several studies have been developed aiming at a better understanding of the effect of the P. cinnamomi action on the cork oak trees decline. The present work describes preliminary results of some of these studies

Cryptogein and capsicein promote defence responses in Quercus suber against Phytophthora cinnamomi infection

The decline of cork oak (Quercus suber) stands in Iberian Peninsula is associated with infection by Phytophthora cinnamomi. Most Phytophthora species secrete elicitins, which can enhance defence reactions against some pathogens. Here cytological and physiological effects of the elicitins cryptogein and capsicein on cork oak root infection by P. cinnamomi were evaluated. The progression of the pathogen in root tissue and its effects on total fatty acid (TFA) composition of roots and leaves were analysed in seedlings. Net photosynthesis (P (n) ), stomatal conductance (g (s) ), chlorophyll a fluorescence measurements (quantum yield of linear electron transport I center dot (e) , photochemical quenching q (P,) non-photochemical quenching NPQ) and carotenoid determinations were carried out in well established (4 months) plants. In elicitin-treated roots, 2 days after inoculation, the pathogen which presented loss of viability and membrane degradation was mainly restricted to the intercellular spaces of the cortical parenchyma, and did not reach the vascular cylinder. Electron dense materials accumulated in the intercellular spaces of the cortex next to disorganized hyphae, suggested to be related with defence reactions. Cryptogein (or its interaction with P. cinnamomi) induced enhanced lipid synthesis in leaves, which may contribute to preserve membrane stability. P. cinnamomi decreased P (n) , g (s) , I center dot (e) , and q (P), whereas elicitin-treated plants displayed values similar to controls. Overall, the results indicated a resistance response of cork oak against this oomycete, induced by the elicitins