50 research outputs found

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

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    DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. While four mutations are recurrent, two are unique with one affecting the codon of one recurrent mutation. All amino acid changes are located within highly conserved helicase motifs and were found to either impair ATPase activity or RNA recognition in different in vitro assays. Moreover, protein variants exhibit an increased propensity to trigger stress granule (SG) formation resulting in global translation inhibition. Thus, our findings highlight the prominent role of translation control in development and function of the central nervous system and also provide molecular insight into how DHX30 dysfunction might cause a neurodevelopmental disorder

    Reactive Molecular Dynamics study on the first steps of DNA-damage by free hydroxyl radicals

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    We employ a large scale molecular simulation based on bond-order ReaxFF to simulate the chemical reaction and study the damage to a large fragment of DNA-molecule in the solution by ionizing radiation. We illustrate that the randomly distributed clusters of diatomic OH-radicals that are primary products of megavoltage ionizing radiation in water-based systems are the main source of hydrogen-abstraction as well as formation of carbonyl- and hydroxyl-groups in the sugar-moiety that create holes in the sugar-rings. These holes grow up slowly between DNA-bases and DNA-backbone and the damage collectively propagate to DNA single and double strand break.Comment: 6 pages and 8 figures. movies and simulations are available at: http://qmsimulator.wordpress.com

    KWESTIA DŁUGOOKRESOWEJ STRATEGII ZRÓWNOWAŻONEGO ROZWOJU ROLNICTWA W POLSCE

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    The aim of the article is to outline the approach to developing a long-term strategy for sustainable development of agriculture in Poland. The author pre- sents the issues to be considered when pursuing such a strategy. It is limited to three issues: justification for agricultural transformation towards sustainability, approach to strategy pursuing and strategy outline. The analysis was made on the basis of literature and the author’s own reflections. It was found that the transformation of agriculture towards sustainability re- quires developing an appropriate long-term strategy, which in particular would create a framework for ongoing programs and policy interventions. When imple- menting the strategy – generational change – some objectives result directly from EU policy – in particular achieving climate neutrality and preventing biodiversity decline. Moreover, the objectives which cannot be ignored include soil fertility and food security. There is a need to develop scenarios for achieving these objec- tives with regard to the welfare and aspirations of the new generation, taking into account progress (innovation) and new demographic, climate, environmental, social, and cultural conditions at the national and international level.Celem artykułu jest zarysowanie podejścia do opracowania długookresowej strategii zrównoważonego rozwoju rolnictwa w Polsce. Przedstawiono zagadnienia, jakie trzeba rozważyć, budując taką strategię. Ograniczono się do trzech zagadnień: uzasadnienia transformacji rolnictwa ku zrównoważeniu, podejścia do budowy strategii oraz szkicu strategii. Analizy dokonano na podstawie literatury przedmiotu i własnych przemyśleń autora. Stwierdzono, że transformacja rolnictwa ku zrównoważeniu wymaga wypracowania stosownej strategii długookresowej, która w szczególności tworzyłaby ramy dla bieżących programów i interwencji polityki. W okresie realizacji strategii – zmiany pokoleniowej – niektóre cele wynikają wprost z polityki UE – w szczególności dotyczące osiągnięcia neutralności klimatycznej i powstrzymania redukcji bioróżnorodności. Również nie do pominięcia są cele dotyczące żyzności gleb i bezpieczeństwa żywnościowego. Zachodzi potrzeba opracowania scenariuszy dochodzenia do tych celów z odniesieniem do dobrostanu i aspiracji przychodzącego na świat pokolenia – uwzględniając przy tym czynnik postępu (innowacje) oraz nowe uwarunkowania demograficzne, klimatyczne, środowiskowe, społeczne, kulturowe – krajowe i międzynarodowe

    BADANIA INSTYTUTU – RYS HISTORYCZNY

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    Sustainability of agriculture in view of the agricultural censuses of 2010 and 2020

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    Dane statystyki publicznej, w tym pochodzące z powszechnych spisów rolnych, mogą posłużyć do analizy i oceny postępu w zrównoważonym rozwoju rolnictwa, który odpowiada celom sformułowanym w dokumentach i strategiach rozwojowych. W 2021 r. GUS opublikował pierwsze wyniki Powszechnego Spisu Rolnego (PSR) 2020, porównywalne z danymi PSR 2010, wraz z zaobserwowanymi tendencjami rozwoju rolnictwa w Polsce w niektórych obszarach. Celem artykułu jest dokonanie wstępnej, wybiórczej oceny zmian w zrównoważeniu rolnictwa na podstawie dostępnych danych pochodzących z powszechnych spisów rolnych oraz wskazanie na potrzebę opracowania i udostępnienia przez GUS dodatkowych danych pozwalających pełniej zobrazować postęp w zrównoważonym rozwoju rolnictwa w Polsce. Publikowane przez GUS dane umożliwiają ogólną ocenę przemian struktury agrarnej, nakładów pracy, użytkowania gruntów rolnych, technologii rolniczych, nakładów środków przemysłowych oraz specjalizacji i źródeł utrzymania gospodarstw domowych z użytkownikiem indywidualnego gospodarstwa rolnego w kontekście zrównoważenia rolnictwa. Bardziej wszechstronna i pełniejsza ocena wymaga uwzględnienia w kolejnych pospisowych publikacjach GUS informacji z innych źródeł niż PSR i opracowania nowych grupowań gospodarstw – według wskaźników zrównoważenia, typu gminy, technologii i praktyk rolniczych, najmu siły roboczej, orientacji rynkowej i źródeł utrzymania, obszarów o różnej waloryzacji rolniczej, obszarów Natura 2000 i innych.Data provided by official statistics, including those obtained through agricultural censuses, can serve to analyse and assess the progress made in the sustainable development of agriculture, which is consistent with the objectives set out in policy documents and development strategies. In 2021, Statistics Poland published the first results of the 2020 Agricultural Census (2020 AC), comparable with the 2010 AC data, along with the tendencies of the development of agriculture in Poland observed in certain areas. The aim of the paper is to make a preliminary and selective assessment of the changes occurring in sustainable agriculture on the basis of the available agricultural census data. Furthermore, the study is meant to emphasise the need for Statistics Poland to collect and publish additional data allowing for a fuller illustration of the progress made in the area of agricultural sustainable development. The data provided by Statistics Poland enable a general assessment of the changes taking place in the agrarian structure, labour input, agricultural land use, agricultural technologies, industrial resources input, and specialisations and sources of maintenance of households with a user of an individual agricultural holding in the context of agricultural sustainability. However, a more comprehensive and complete evaluation requires Statistics Poland to take into account information from sources other than agricultural censuses in its further, post-census publications. Moreover, the aforementioned evaluation necessitates the establishment of new farm groupings according to sustainability indicators, the type of gmina (municipality), the used agricultural technologies and practices, labour input, farms’ market orientation and sources of support, the areas of different agricultural valorisation (LFA), the Natura 2000 areas, and others

    Butt rot occurrence in plus trees of Silver fir Abies alba Mill. and Norway spruce Picea abies (L.) from the Carpathians

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    Due to its hidden character, butt rot occurrence is not commonly included in the assessment of plus trees’ health status. Thus, the trees’ varied susceptibility to wood decay is not a target of breeding efforts. The aim of the study was to determine the extent of butt rot in fir and spruce plus trees from Carpathian seed stands. We employed the novel and non-invasive diagnostic method of sonic tomography to determine presence and severity of decay at the base of 110 plus trees of silver fir and 42 of Norway spruce. Butt rot in various stages of development occurred in 63% of investigated fir trees and in 45% of spruce trees. The proportion of damaged wood on the tomogram ranged from 0–38% in fir and 0–47% in spruce with similar average proportions of solid wood in all forest districts. The vast majority of trees was in the range of 80–90% solid wood. Plus trees of fir and spruce were affected by butt rot to a similar extent and the degree of damage increased with age in both species. However, a large variation in susceptibility to butt rot was found between individual trees leading to the conclusion that the identification of old trees, which wood is not decayed, may be the basis for further research on the resistance to butt rot

    Ways to use silver birch Betula pendula Roth regeneration in sites considered for stand conversion due to decline of Norway spruce Picea abies (L.) H. Karst. in the Silesian Beskid Mountains

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    One of the tree species appearing after a decline of Norway spruce Picea abies (L.) H. Karst. in the Silesian Beskid Mountains is Silver Birch Betula pendula Roth. Therefore our study was aimed at evaluating this birch regeneration and the dynamics of changes resulting from experimental cutting. Measurements and inventories of trees were conducted on research plots located in a ten-year old birch regeneration site with either no cutting, partial cutting (50%) or clear cutting (100%) of birch. We observed an introduction of biocenotic species (rowan, willow, aspen) as well as the target species (spruce, fir, beech) under the birch canopy. Fir and beech were also planted, because of their slow natural regeneration. The clear cut treatment caused a great number of sprouts growing from birch stumps, reaching a height of about 2 m over 3 years, resulting in competition with the regeneration of other species. Partial cutting did not cause such a drastic amount of sprouting. Furthermore, we found that only the spruce height increment is significantly less under a birch canopy compared to open space. The obtained results indicate a necessity to adjust the density and species composition of regenerating tree species under a birch canopy, avoiding complete removal of the first generation birch cover and the need to moderately thin out birch
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