Identification de génotypes-S chez les descendances d’amandiers par les méthodes NEPHGE et PCR

Almond (P. amygdalus Batsch) shows a gametophytic self-incompatibility system controlled by a multiallelic locus, known as the locus S. Self-compatibility has been related to Sf allele presence and this trait has become a priority in the main almond breeding programs and the search for new cultivars is focused on the evaluation of desirable traits in autogamous seedlings. Traditionally, self-compatibility has been assessed in almond by laborious and time consuming methods, such as determination of fruit set in bagged branches or microscopic observation of pollen tube growth after self-pollination in laboratory conditions. Recently, molecular methods have been developed to assess the S-genotype, such as the identification of stylar S-RNases by NEPHGE (non equilibrium pH gradient electro focusing) and the use of conserved and specific PCR primers for the amplification of fragments from the different S alleles. In this research we applied these molecular methods for the S-genotype assessment in two almond breeding progenies, from the crosses of the self-compatible elite selection 'G-2-25' (S11Sf) of the CITA, as female parent, with two self-incompatible cultivars, 'Desmayo Largueta' (S1S25) and 'Marcona' (S11S12), as male parents. Although no discrepancies were found between the two methods, PCR was more suitable than NEPHGE for S-genotype assessment. PCR is easier to optimize, cheaper, more precise and reliable. It is also possible to assess the genotype sooner than with NEPHGE, as flowers are not required for the determination, allowing an earlier elimination of the seedlings. In the 'G-2-25' (S11Sf) x 'Marcona' (S11S12) progeny, the ratio of genotypes was 42% S11S12 and 58% SfS12, approaching the Mendelian laws of transmission in spite of the slightly higher proportion of self-compatible seedlings. In the other family, 'G-2-25' (S11Sf) x 'Desmayo Largueta' (S1S25), four S-genotypes are possible, but the ratios obtained were 21% S1S11, 53% S1Sf, 0% S11S25, and 26% SfS25. These results showed that pollen carrying the S25 allele had only a 26% fertilization success as compared to 73 of pollen carrying the S1 allele. The absence of S11S25 seedlings may imply the expression of a homozygous lethal trait in these zygotes and the distortion of the Mendelian ratiosL’amandier (P. amygdalus Batsch) montre un système d’auto-incompatibilité gamétophytique contrôlé par un locus multiallélique, connu comme locus S. L’auto-compatibilité a été reliée à la présence de l’allèle Sf et cette caractéristique est devenue une priorité pour les principaux programmes d’amélioration de l’amandier, et ainsi la recherche de nouveaux cultivars se focalise sur l’évaluation des caractères désirables pour les plants autogames. Traditionnellement, l’auto-compatibilité a été évaluée chez les amandiers par des méthodes laborieuses et prenant beaucoup de temps, telles que la détermination de la nouaison pour les branches ensachées ou l’observation microscopique de la croissance des tubes de pollen après auto-pollinisation en conditions de laboratoire. Récemment, des méthodes moléculaires ont été développées pour évaluer le génotype-S, telles que l’identification de S-RNases stylaires par NEPHGE (non equilibrium pH gradient electro-focusing) et l’utilisation d’amorces PCR conservées et spécifiques pour l’amplification de fragments provenant de différents allèles-S. Pour cette recherche nous avons appliqué ces méthodes moléculaires pour l’évaluation du génotype-S chez les descendances améliorées de deux amandiers, à partir des croisements d’une sélection d’élite auto-compatible 'G-2-25' (S11Sf) du CITA, comme parent femelle, avec deux cultivars auto-incompatibles, 'Desmayo Largueta' (S1S25) et 'Marcona' (S11S12), comme parents mâles. Bien que l’on n’ait pas trouvé de divergences entre les deux méthodes, la PCR était plus adéquate que NEPHGE pour l’évaluation du génotype-S. La PCR est plus facile à optimiser, moins onéreuse, plus précise et fiable. Il est également possible d’évaluer le génotype plus tôt qu’avec NEPHGE, étant donné qu’il n’est pas nécessaire d’obtenir des fleurs pour la détermination, permettant ainsi une élimination précoce des plants. Dans la descendance de 'G-2-25' (S11Sf) 'Marcona' (S11S12), le quotient des génotypes était de 42% S11S12 et de 58% SfS12, se rapprochant des lois mendéliennes de transmission malgré la proportion légèrement plus élevée de plants auto-compatibles. Pour l’autre famille, 'G-2-25' (S11Sf) 'Desmayo Largueta' (S1S25), quatre génotypes-S sont possibles, mais les quotients obtenus étaient de 21% S1S11, 53% S1Sf, 0% S11S25, et 26% SfS25. Ces résultats montrent que le pollen portant l’allèle S25 avait une réussite de fertilisation d’uniquement 26% comparée à 73 pour le pollen portant l'allèle S1. L’absence de plants S11S25 pourrait faire penser à l’expression d’un caractère létal homozygote chez ces zygotes et à la distortion des quotients mendélien

Interseismic coupling and refined earthquake potential on the Hayward-Calaveras fault zone

Interseismic strain accumulation and fault creep is usually estimated from GPS and alignment arrays data, which provide precise but spatially sparse measurements. Here we use interferometric synthetic aperture radar to resolve the interseismic deformation associated with the Hayward and Calaveras Faults (HF and CF) in the East San Francisco Bay Area. The large 1992–2011 SAR data set permits evaluation of short- and long-wavelength deformation larger than 2 mm/yr without alignment of the velocity field to a GPS-based model. Our time series approach in which the interferogram selection is based on the spatial coherence enables deformation mapping in vegetated areas and leads to refined estimates of along-fault surface creep rates. Creep rates vary from 0 ± 2 mm/yr on the northern CF to 14 ± 2 mm/yr on the central CF south of the HF surface junction. We estimate the long-term slip rates by inverting the long-wavelength deformation and the distribution of shallow slip due to creep by inverting the remaining velocity field. This distribution of slip reveals the locations of locked and slowly creeping patches with potential for a M6.8 ± 0.3 on the HF near San Leandro, a M6.6 ± 0.2 on the northern CF near Dublin, a M6.5 ± 0.1 on the HF south of Fremont, and a M6.2 ± 0.2 on the central CF near Morgan Hill. With cascading multisegment ruptures the HF rupturing from Berkeley to the CF junction could produce a M6.9 ± 0.1, the northern CF a M6.6 ± 0.1, the central CF a M6.9 ± 0.2 from the junction to Gilroy, and a joint rupture of the HF and central CF could produce a M7.1 ± 0.1

Detection of Echinococcus multilocularis in Carnivores in Razavi Khorasan Province, Iran Using Mitochondrial DNA

Echinococcus multilocularis causes alveolar echinococcosis, a serious zoonotic disease present in many areas of the world. The parasite is maintained in nature through a life cycle in which adult worms in the intestine of carnivores transmit infection to small mammals, predominantly rodents, via eggs in the feces. Humans may accidentally ingest eggs of E. multilocularis through contact with the definitive host or by direct ingestion of contaminated water or foods, causing development of a multivesicular cyst in the viscera, especially liver and lung. We found adult E. multilocularis in the intestine and/or eggs in feces of all wild carnivores examined and in some stray and domestic dogs in villages of Chenaran region, northeastern Iran. The life cycle of E. multilocularis is being maintained in this area by wild carnivores, and the local population and visitors are at risk of infection with alveolar echinococcosis. Intensive health initiatives for control of the parasite and diagnosis of this potentially fatal disease in humans, in this area of Iran, are needed

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized protein quality control pathway-Ribosome-associated Quality Control (RQC)-by mediating proteolytic targeting of incomplete polypeptides produced by ribosome stalling, and Ltn1 mutation leads to neurodegeneration in mice. Whether neurodegeneration results from defective RQC and whether defective RQC contributes to human disease have remained unknown. Here we show that three independently-generated mouse models with mutations in a different component of the RQC complex, NEMF/Rqc2, develop progressive motor neuron degeneration. Equivalent mutations in yeast Rqc2 selectively interfere with its ability to modify aberrant translation products with C-terminal tails which assist with RQC-mediated protein degradation, suggesting a pathomechanism. Finally, we identify NEMF mutations expected to interfere with function in patients from seven families presenting juvenile neuromuscular disease. These uncover NEMF's role in translational homeostasis in the nervous system and implicate RQC dysfunction in causing neurodegeneration

Comparing energy system optimization models and integrated assessment models: Relevance for energy policy advice

Background: The transition to a climate neutral society such as that envisaged in the European Union Green Deal requires careful and comprehensive planning. Integrated assessment models (IAMs) and energy system optimisation models (ESOMs) are both commonly used for policy advice and in the process of policy design. In Europe, a vast landscape of these models has emerged and both kinds of models have been part of numerous model comparison and model linking exercises. However, IAMs and ESOMs have rarely been compared or linked with one another. Methods: This study conducts an explorative comparison and identifies possible flows of information between 11 of the integrated assessment and energy system models in the European Climate and Energy Modelling Forum. The study identifies and compares regional aggregations and commonly reported variables. We define harmonised regions and a subset of shared result variables that enable the comparison of scenario results across the models. Results: The results highlight how power generation and demand development are related and driven by regional and sectoral drivers. They also show that demand developments like for hydrogen can be linked with power generation potentials such as onshore wind power. Lastly, the results show that the role of nuclear power is related to the availability of wind resources. Conclusions: This comparison and analysis of modelling results across model type boundaries provides modellers and policymakers with a better understanding of how to interpret both IAM and ESOM results. It also highlights the need for community standards for region definitions and information about reported variables to facilitate future comparisons of this kind. The comparison shows that regional aggregations might conceal differences within regions that are potentially of interest for national policy makers thereby indicating a need for national-level analysis

Genetics of intellectual disability in consanguineous families

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence

Adverse Drug Reactions in Children—A Systematic Review

Adverse drug reactions in children are an important public health problem. We have undertaken a systematic review of observational studies in children in three settings: causing admission to hospital, occurring during hospital stay and occurring in the community. We were particularly interested in understanding how ADRs might be better detected, assessed and avoided

Cutaneous lesions of the nose

Skin diseases on the nose are seen in a variety of medical disciplines. Dermatologists, otorhinolaryngologists, general practitioners and general plastic and dermatologic surgeons are regularly consulted regarding cutaneous lesions on the nose. This article is the second part of a review series dealing with cutaneous lesions on the head and face, which are frequently seen in daily practice by a dermatologic surgeon. In this review, we focus on those skin diseases on the nose where surgery or laser therapy is considered a possible treatment option or that can be surgically evaluated