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1
Pleijel, Richard. "Translation teams as cognitive systems". Developments in Cognitive Translation and Interpreting Studies 8, n. 2 (22 novembre 2021): 307–27. http://dx.doi.org/10.1075/cogls.00080.ple.
Testo completoAbstract (sommario):
Abstract This paper aims to bring research on different forms of group-level cognition into conversation with Cognitive Translation Studies (CTS), the focal point of the paper being cognitive processes in translation teams. It is argued that an analysis of cognition in translation teams, which exhibit the properties of a cognitive system, needs to be placed on group-level. A case study of a team, translating the Hebrew Bible Book of Psalms into Swedish in the 1980’s, is presented. The empirical base for the case study consists of archival material in the form of draft translations and paratexts. The methodological question is thus raised whether, and if so in what way, cognitive processes may be analyzed retrospectively, and not only from a real time perspective. By treating the archival material as cognitive artifacts which have constituted an integral part of the team’s cognitive process, the question is tentatively answered in a favourable way. This, it is finally argued, opens up interesting possibilities for joining CTS with translator archives research, Genetic Translation Studies (GTS), and cognitive archeology.
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Munandar, Siswoyo Aris, Laelatul Barokah e Elia Malikhaturrahmah. "Analisis Genetik Objektif Afektif atas Alquran dan Terjemahnya dalam Bahasa Jawa Banyumasan". JOURNAL OF QUR'AN AND HADITH STUDIES 9, n. 2 (30 dicembre 2020): 1–28. http://dx.doi.org/10.15408/quhas.v9i2.16892.
Testo completoAbstract (sommario):
The focus of the study conducted by the researcher this time is on the translator section, the product, and the public's response to the translation. As for the translator, the writer terms it with the genetic aspect, the researcher's product is the objective aspect, while the response of the research community is termed the affective aspect. So that the problem formulations built by the researcher include (1) How is the method of translating the Qur'an and its translation: Javanese Banyumasan?, (2) What is the quality of the translation of the Al-Qur'an and its translation: Javanese Banyumasan ?, (3) How Banyumas community response with the presence of the Qur’an and its translation: Javanese Banyumasan ?. The results of this study are; First, related to the method, this translation is a type of tafsiriah translation or communicative translation. The Banyumas language, which basically does not recognize upload-upload or karmic system, is feared that it will damage the sacred and trenendental nuances of the Qur’an, therefore the translator uses a compromise decision, namely the Banyumas language which adapts ethics. Second, related to the quality of the translation, this translation falls into the fair category. The trend used in this translation is domestication. Third, regarding the public's response to this translation, many have chosen an "easy" level of readability, meaning that the level of acceptance in the community is also "accepted".
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Aryal, Sameer, Francesco Longo e Eric Klann. "Genetic removal of p70 S6K1 corrects coding sequence length-dependent alterations in mRNA translation in fragile X syndrome mice". Proceedings of the National Academy of Sciences 118, n. 18 (27 aprile 2021): e2001681118. http://dx.doi.org/10.1073/pnas.2001681118.
Testo completoAbstract (sommario):
Loss of the fragile X mental retardation protein (FMRP) causes fragile X syndrome (FXS). FMRP is widely thought to repress protein synthesis, but its translational targets and modes of control remain in dispute. We previously showed that genetic removal of p70 S6 kinase 1 (S6K1) corrects altered protein synthesis as well as synaptic and behavioral phenotypes in FXS mice. In this study, we examined the gene specificity of altered messenger RNA (mRNA) translation in FXS and the mechanism of rescue with genetic reduction of S6K1 by carrying out ribosome profiling and RNA sequencing on cortical lysates from wild-type, FXS, S6K1 knockout, and double knockout mice. We observed reduced ribosome footprint (RF) abundance in the majority of differentially translated genes in the cortices of FXS mice. We used molecular assays to discover evidence that the reduction in RF abundance reflects an increased rate of ribosome translocation, which is captured as a decrease in the number of translating ribosomes at steady state and is normalized by inhibition of S6K1. We also found that genetic removal of S6K1 prevented a positive-to-negative gradation of alterations in translation efficiencies (RF/mRNA) with coding sequence length across mRNAs in FXS mouse cortices. Our findings reveal the identities of dysregulated mRNAs and a molecular mechanism by which reduction of S6K1 prevents altered translation in FXS.
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Oshanova, E. S. "ON THE PROBLEM OF TRANSLATION “TRANSLATER’S FALSE FRIENDS” ON THE EXAMPLE OF PUBLICISTIC TEXTS". Social’no-ekonomiceskoe upravlenie: teoria i praktika 17, n. 3 (5 ottobre 2021): 121–26. http://dx.doi.org/10.22213/2618-9763-2021-2-121-126.
Testo completoAbstract (sommario):
This article is devoted to the study of the interlanguage phenomenon “false friends of the translator” problems in the practice of translation studies. It is widely known that translation plays a large and important role in the cultural development of mankind. During the translation, a large number of problems arise which are quite difficult to cope with, therefore, in order to achieve the goal - to give a full and high-quality translation, the translator needs to possess versatile and special knowledge. The relevance of this work is that the concept “false friends of the translator” is considered on the example of English and German languages and the analysis is based on the material of journalistic texts. It should be pointed out that the “false friends of the translator” are the result of the mutual influence of languages but in some cases they appear due to random coincidences. Their meaning and the total number of each of the possible sources in their education becomes different for each individual pair of languages and is determined by the historical and genetic connections of the languages. The results of the translation’s analysis of the “translator's false friends” in newspaper articles show that the translator needs to study carefully the semantic structure, meanings and examples of the use of the “translator's false friends”, analyze the possible translation options of the word presented in the dictionary and also consider carefully the context in which the word is used. The study showed that the main task of analyzing the text in which “false friends” are used is to analyze the methods of individual author's use of language tools and in addition, to explain the language factors used in the text and their meaning.
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Carr, Jennifer F., Hannah J. Lee, Joshua B. Jaspers, Albert E. Dahlberg, Gerwald Jogl e Steven T. Gregory. "Phenotypic Suppression of Streptomycin Resistance by Mutations in Multiple Components of the Translation Apparatus". Journal of Bacteriology 197, n. 18 (6 luglio 2015): 2981–88. http://dx.doi.org/10.1128/jb.00219-15.
Testo completoAbstract (sommario):
ABSTRACTThe bacterial ribosome and its associated translation factors are frequent targets of antibiotics, and antibiotic resistance mutations have been found in a number of these components. Such mutations can potentially interact with one another in unpredictable ways, including the phenotypic suppression of one mutation by another. These phenotypic interactions can provide evidence of long-range functional interactions throughout the ribosome and its functional complexes and potentially give insights into antibiotic resistance mechanisms. In this study, we used genetics and experimental evolution of the thermophilic bacteriumThermus thermophilusto examine the ability of mutations in various components of the protein synthesis apparatus to suppress the streptomycin resistance phenotypes of mutations in ribosomal protein S12, specifically those located distant from the streptomycin binding site. With genetic selections and strain constructions, we identified suppressor mutations in EF-Tu or in ribosomal protein L11. Using experimental evolution, we identified amino acid substitutions in EF-Tu or in ribosomal proteins S4, S5, L14, or L19, some of which were found to also relieve streptomycin resistance. The wide dispersal of these mutations is consistent with long-range functional interactions among components of the translational machinery and indicates that streptomycin resistance can result from the modulation of long-range conformational signals.IMPORTANCEThe thermophilic bacteriumThermus thermophilushas become a model system for high-resolution structural studies of macromolecular complexes, such as the ribosome, while its natural competence for transformation facilitates genetic approaches. Genetic studies ofT. thermophilusribosomes can take advantage of existing high-resolution crystallographic information to allow a structural interpretation of phenotypic interactions among mutations. Using a combination of genetic selections, strain constructions, and experimental evolution, we find that certain mutations in the translation apparatus can suppress the phenotype of certain antibiotic resistance mutations. Suppression of resistance can occur by mutations located distant in the ribosome or in a translation factor. These observations suggest the existence of long-range conformational signals in the translating ribosome, particularly during the decoding of mRNA.
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Shu, Xin Erica, Robert V. Swanda e Shu-Bing Qian. "Nutrient Control of mRNA Translation". Annual Review of Nutrition 40, n. 1 (23 settembre 2020): 51–75. http://dx.doi.org/10.1146/annurev-nutr-120919-041411.
Testo completoAbstract (sommario):
The emergence of genome-wide analyses to interrogate cellular DNA, RNA, and protein content has revolutionized the study of control networks that mediate cellular homeostasis. mRNA translation represents the last step of genetic flow and primarily defines the proteome. Translational regulation is thus critical for gene expression, in particular under nutrient excess or deficiency. Until recently, it was unclear how the global effects of translational control are orchestrated by nutrient signaling pathways. An emerging concept of translational reprogramming addresses how to maintain the expression of specific proteins during nutrient stress by translation of selective mRNAs. In this review, we describe recent advances in our understanding of translational control principles; nutrient-sensing mechanisms; and their dysregulation in human diseases such as diabetes, cancer, and aging. The mechanistic understanding of translational regulation in response to different nutrient conditions may help identify potential dietary and therapeutic targets to improve human health.
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Alghamdi, Emad A., Jezia Zakraoui e Fares A. Abanmy. "Domain Adaptation for Arabic Machine Translation: Financial Texts as a Case Study". Applied Sciences 14, n. 16 (13 agosto 2024): 7088. http://dx.doi.org/10.3390/app14167088.
Testo completoAbstract (sommario):
Neural machine translation (NMT) has shown impressive performance when trained on large-scale corpora. However, generic NMT systems have demonstrated poor performance on out-of-domain translation. To mitigate this issue, several domain adaptation methods have recently been proposed which often lead to better translation quality than genetic NMT systems. While there has been some continuous progress in NMT for English and other European languages, domain adaption in Arabic has received little attention in the literature. The current study, therefore, aims to explore the effectiveness of domain-specific adaptation for Arabic MT (AMT), in yet unexplored domain, financial news articles. To this end, we developed a parallel corpus for Arabic-English (AR-EN) translation in the financial domain to benchmark different domain adaptation methods. We then fine-tuned several pre-trained NMT and Large Language models including ChatGPT-3.5 Turbo on our dataset. The results showed that fine-tuning pre-trained NMT models on a few well-aligned in-domain AR-EN segments led to noticeable improvement. The quality of ChatGPT translation was superior to other models based on automatic and human evaluations. To the best of our knowledge, this is the first work on fine-tuning ChatGPT towards financial domain transfer learning. To contribute to research in domain translation, we made our datasets and fine-tuned models available.
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Sharonov, Alexander M., e Elena A. Sharonova. "Bilingualism in the Author’s Translation of the National Epic: on the Material of “Mastorava”". Polylinguality and Transcultural Practices 20, n. 2 (30 giugno 2023): 298–311. http://dx.doi.org/10.22363/2618-897x-2023-20-2-298-311.
Testo completoAbstract (sommario):
In 1994, the Erzya epic “Mastorava” was published in the Erzya language. The success of this work made us think about the need for its translation into Russian. It was decided to entrust the translation to the author of “Mastorava” - Alexander Markovich Sharonov, who is equally fluent in Erzya and Russian. The relevance of the study is determined by the enduring interest in the phenomenon of bilingualism in the author’s translation of the national epic. A bilingual poet translating his own text is in a more difficult situation than a poet translating interlinear. For the former, hearing the music of both languages, seeks to harmonize it, to make its sounding adequate in the spaces of these languages. He is faced with the task of synchronizing the work of figurative and semantic series, preserving the authenticity of Erzya mythological and folklore images, moving them into the space of Russian images and meanings that instantly begin to appear with the first sounds of the Russian word, and arrange everything so that the national retains its uniqueness. This work is given to a bilingual translator with great effort precisely because he hears and feels both languages, he is aware of the nuances of meanings and semantic nuances. While the interlinear translator exists in the sound and semantic spaces of only one language and does not see the details. The translation of the text of a work of art is complicated by its metaphorical figurativeness, which allows for a variety of perceptions, and hence the difficulty in conveying its meaning, assumed by the author. However, high-quality translation moves a work from one language to another language, from one literature to another literature, expanding, enriching and complicating the scope of its existence. Research methods: descriptive, genetic, comparative.
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Ádám, Balázs, Szabolcs Lovas e Róza Ádány. "Use of Genomic Information in Health Impact Assessment is Yet to Come: A Systematic Review". International Journal of Environmental Research and Public Health 17, n. 24 (15 dicembre 2020): 9417. http://dx.doi.org/10.3390/ijerph17249417.
Testo completoAbstract (sommario):
Information generated by genetic epidemiology and genomics studies has been accumulating at fast pace, and this knowledge opens new vistas in public health, allowing for the understanding of gene–environment interactions. However, the translation of genome-based knowledge and technologies to the practice of healthcare, and especially of public health, is challenging. Because health impact assessment (HIA) proved to be an effective tool to assist consideration of health issues is sectoral policymaking, this study aimed at exploring its role in the translational process by a systematic literature review on the use of genetic information provided by genetic epidemiology and genomics studies in HIA. PubMed, Scopus, and Web of Science electronic databases were searched and the findings systematically reviewed and reported by the PRISMA guidelines. The review found eight studies that met the inclusion criteria, most of them theoretically discussing the use of HIA for introducing genome-based technologies in healthcare practice, and only two articles considered, in short, the possibility for a generic application of genomic information in HIA. The findings indicate that HIA should be more extensively utilized in the translation of genome-based knowledge to public health practice, and the use of genomic information should be facilitated in the HIA process.
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Lee, Joon-Hwa, e Masato Katahira. "Biophysical Study of the Structure, Dynamics, and Function of Nucleic Acids". International Journal of Molecular Sciences 23, n. 10 (23 maggio 2022): 5836. http://dx.doi.org/10.3390/ijms23105836.
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Liu, Yuan, e Liangfeng Dong. "Research on English Translation Based on Functional Equivalence Theory and Genetic Algorithm". Wireless Communications and Mobile Computing 2021 (7 gennaio 2021): 1–7. http://dx.doi.org/10.1155/2021/6672773.
Testo completoAbstract (sommario):
With the increasing development of our country and the world, the importance of English as an international language is self-evident. But we have difficulty in English translation, especially the vocabulary and translation of business English letters, not only because we have different living habits but also because we have different ways of speaking. Based on the research of functional equivalence theory and the calculation of a genetic algorithm, the vocabulary and translation of business English letters will be better improved. This can help us communicate better with each other and learn from the advanced Western experience in China. Through the study of the algorithm, the computational advantages of the algorithm are proved. The study of this English translation model will further improve the progress and promotion of existing translation technology.
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Liu, Yuan, e Liangfeng Dong. "Research on English Translation Based on Functional Equivalence Theory and Genetic Algorithm". Wireless Communications and Mobile Computing 2021 (7 gennaio 2021): 1–7. http://dx.doi.org/10.1155/2021/6672773.
Testo completoAbstract (sommario):
With the increasing development of our country and the world, the importance of English as an international language is self-evident. But we have difficulty in English translation, especially the vocabulary and translation of business English letters, not only because we have different living habits but also because we have different ways of speaking. Based on the research of functional equivalence theory and the calculation of a genetic algorithm, the vocabulary and translation of business English letters will be better improved. This can help us communicate better with each other and learn from the advanced Western experience in China. Through the study of the algorithm, the computational advantages of the algorithm are proved. The study of this English translation model will further improve the progress and promotion of existing translation technology.
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Lindberg, Nangel M., Amanda M. Gutierrez, Kathleen F. Mittendorf, Michelle A. Ramos, Beatriz Anguiano, Frank Angelo e Galen Joseph. "Creating accessible Spanish language materials for Clinical Sequencing Evidence-Generating Research consortium genomic projects: challenges and lessons learned". Personalized Medicine 18, n. 5 (settembre 2021): 441–54. http://dx.doi.org/10.2217/pme-2020-0075.
Testo completoAbstract (sommario):
Aim: To increase Spanish speakers' representation in genomics research, accessible study materials on genetic topics must be made available in Spanish. Materials & methods: The Clinical Sequencing Evidence-Generating Research consortium is evaluating genome sequencing for underserved populations. All sites needed Spanish translation of recruitment materials, surveys and return of results. Results: We describe our process for translating site-specific materials, as well as shared measures across sites, to inform future efforts to engage Spanish speakers in research. Conclusion: In translating and adapting study materials for roughly 1000 Spanish speakers across the USA, and harmonizing translated measures across diverse sites, we overcame numerous challenges. Translation should be performed by professionals. Studies must allocate sufficient time, effort and budget to translate and adapt participant materials.
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Groisman, Irina, e Hanna Engelberg-Kulka. "Translational bypassing: a new reading alternative of the genetic code". Biochemistry and Cell Biology 73, n. 11-12 (1 dicembre 1995): 1055–59. http://dx.doi.org/10.1139/o95-113.
Testo completoAbstract (sommario):
The translation of the genetic code, once thought to be rigid, has been found to be quite flexible, and several alternatives in its reading have been described. An unusual alternative is translational bypassing, a frameshift event where the transition from frame 0 to another frame occurs by translational bypassing of an extended region of the mRNA sequence rather than by slippage past a single nucleotide, as has been described for most examples of frameshifting. Translational bypassing has been characterized in two cases, T4 gene 60 coding for a topoisomerase subunit and in a trpR–lac′Z fusion. The latter was discovered in our laboratory, and the unique bypass mechanism is investigated further in this study. Using a trpR+1–lac′Z fusion system, we show that the Gln codon at the beginning of lacZ end at the 3′ side of the gap is required for bypassing to occur. The Gln codon is part of an mRNA segment that can (potentially) base pair with a segment at the 5′ and of Escherichia coli 16S rRNA. A model of trpR+1–lac′Z bypassing is suggested in which the untranslated region of the mRNA is looped out through base pairing between a segment in the 5′ end of the 16S rRNA and two sites in the mRNA. Translational bypassing is a newly discovered mechanism of gene expression, and trpR is the first cellular gene identified in which such a mechanism could operate. The understanding of this mechanism and its associated signals may be considered a paradigm for the expression of other genes by this alternative reading of the genetic code.Key words: genetic code, translation, frameshifting, trpR.
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Tran, Ben, Janet E. Dancey, Suzanne Kamel-Reid, John D. McPherson, Philippe L. Bedard, Andrew M. K. Brown, Tong Zhang et al. "Cancer Genomics: Technology, Discovery, and Translation". Journal of Clinical Oncology 30, n. 6 (20 febbraio 2012): 647–60. http://dx.doi.org/10.1200/jco.2011.39.2316.
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In recent years, the increasing awareness that somatic mutations and other genetic aberrations drive human malignancies has led us within reach of personalized cancer medicine (PCM). The implementation of PCM is based on the following premises: genetic aberrations exist in human malignancies; a subset of these aberrations drive oncogenesis and tumor biology; these aberrations are actionable (defined as having the potential to affect management recommendations based on diagnostic, prognostic, and/or predictive implications); and there are highly specific anticancer agents available that effectively modulate these targets. This article highlights the technology underlying cancer genomics and examines the early results of genome sequencing and the challenges met in the discovery of new genetic aberrations. Finally, drawing from experiences gained in a feasibility study of somatic mutation genotyping and targeted exome sequencing led by Princess Margaret Hospital–University Health Network and the Ontario Institute for Cancer Research, the processes, challenges, and issues involved in the translation of cancer genomics to the clinic are discussed.
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Lee, Joon-Hwa. "New Understandings from the Biophysical Study of the Structure, Dynamics, and Function of Nucleic Acids 2.0". International Journal of Molecular Sciences 23, n. 24 (13 dicembre 2022): 15822. http://dx.doi.org/10.3390/ijms232415822.
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Hina, S. "Translational inhibitors as potential therapeutic tool of human neuroblastoma through mitochondrial gene expression". European Psychiatry 41, S1 (aprile 2017): S464. http://dx.doi.org/10.1016/j.eurpsy.2017.01.517.
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Neuroblastoma is a solid neuroendocrine tumour and most common type of cancer of infancy. It is a complex heterogeneous disease and many factors such as molecular, cellular and genetic features are involved in its development. Mitochondria play a pivotal role in neuronal cell survival or death. Neurons are highly reliant on aerobic oxidative phosphorylation (OXPHOS) for their energy needs. Defective activities of mitochondrial complexes I, II, III and IV have been identified in many neurological and neurodegenerative diseases. Human mitochondria with its own genetic material meet the needs required for the assembly of subunits of the oxidative phosphorylation (OXPHOS) complexes. A number of translational inhibitors are known that could potentially effect translation of mitochondrial protein synthesis. Among these puromycin, homoharringtonine and cyclohexamide were selected for the present study. The effect of these translational inhibitors on mitochondrial gene expression for the treatment of neuroblastoma are not well established. Therefore, in this study, we have investigated the effects of these translational inhibitors on the expression of human mitochondrial gene expression in SH-SY5Y neuroblastoma cells.We observed a significant effect on the level of mitochondrial transcripts upon exposure to these translation inhibitors in SH-SY5Y cells, however, the effects on expression of mitochondrial proteins were minimal. This suggests that translational inhibitors might not directly affect the abundance of mitochondrial proteins. Translational inhibitors induce significant effect on mitochondrial gene expression that can be lead to the new-targeted therapy for treating neuroblastoma.
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Hagen, Darren E., e Anna K. Goldkamp. "99 Noncoding Rnas Alter Our Interpretations of Genome to Phenome". Journal of Animal Science 101, Supplement_3 (6 novembre 2023): 52–53. http://dx.doi.org/10.1093/jas/skad281.065.
Testo completoAbstract (sommario):
Abstract Gene transcription and protein translation are core components in the process of gene expression. Previous research on the regulation of gene expression largely focuses on events prior to translation, including epigenetic regulation, transcription, and RNA processing. However, translation acts as an additional layer of regulation that plays an important role in gene expression and function. Highly expressed genes are thought to be codon-biased to support efficient translation, in which the encoded codons correspond to highly abundant tRNAs. Further, synonymous SNPs were once considered to be silent due to the degeneracy of the genetic code. However, synonymous SNPs may disturb protein abundance and function through alterations in translational efficiency and suboptimal pairing to lowly abundant tRNAs. Our previous study identified variation in tRNA expression within bovine liver and muscle tissue, suggesting tissue-specific modulation of translation. In addition, advances in sequencing technologies have recently permitted the study of the translatome, which refers to the entire population of mRNA associated with ribosomes for protein synthesis and can be investigated through ribosome profiling. Here, we applied Quantitative Mature tRNA sequencing (QuantM-tRNA-seq) and ribosome profiling to investigate the relationship between tRNA expression and translational stalling events. Moreover, we have identified translationally regulated genes underlying tissue-specific biological processes and found that many upregulated and downregulated genes coincided with high and low translational efficiency respectively. We have also successfully defined stalling sites that depict the regulatory information encoded within the coding sequence of transcripts, which could control translation rate and facilitate proper protein folding. This work offers an atlas of distinctive stalling sites across bovine tissues, which provides an opportunity to predict codon optimality and understand tissue-specific mechanisms of regulating protein synthesis.
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Dalton, Ryan P. "Shared genetic requirements for ATF5 translation in the vomeronasal organ and main olfactory epithelium". F1000Research 7 (17 gennaio 2018): 73. http://dx.doi.org/10.12688/f1000research.13659.1.
Testo completoAbstract (sommario):
Background: Both olfactory sensory neurons (OSNs) and vomeronasal sensory neurons (VSNs) require the transcription factor Atf5 for maturation and survival. In OSNs, ATF5 translation is controlled by olfactory receptor (OR) expression-mediated activation of the PERK branch of the unfolded protein response. This study evaluated whether OSNs and VSNs share genetic requirements for ATF5 translation. Methods: ATF5 immunoreactivity was assayed in whole vomeronasal organs from a series of genetic mutant animals identified in studies of OR gene choice, OR feedback, and regulation and OSN development. Results: ATF5 expression in VSNs required the histone demethylase Lsd1, which has been previously reported to be required for OR expression. ATF5 expression also required PERK-mediated phosphorylation of the translation initiation factor eIF2a. Finally, unlike previous observations in OSNs, ATF5 was found to be widespread in the mature VNO and co-expressed with mature VSN markers. Conclusions: These data suggest that the initiation of ATF5 translation in VSNs and OSNs is under similar regulation, and that persistent/prolonged ATF5 translation in VSNs may serve VSN-specific gene regulatory programs. This study firmly establishes the unfolded protein response as a major controller of sensory neuronal maturation and diversification.
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Campuzano, Oscar, Anna Fernandez-Falgueras, Ximena Lemus, Georgia Sarquella-Brugada, Sergi Cesar, Monica Coll, Jesus Mates et al. "Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants". Journal of Clinical Medicine 8, n. 7 (16 luglio 2019): 1035. http://dx.doi.org/10.3390/jcm8071035.
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Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in KCNQ1, KCNH2, or KCNJ2; three genes encoding potassium channels. Other variants located in genes encoding calcium or sodium channels are associated with electrical alterations concomitant with shortened QT intervals but do not guarantee a diagnosis of short QT syndrome. We recommend caution regarding previously reported variants classified as pathogenic. An exhaustive re-analysis is necessary to clarify the role of each variant before routinely translating genetic findings to the clinical setting.
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Sukmawati, Ika, e Karunia Galih Permadani. "Genetic Material Upgrading: Misconception Identification Study in High School Biology Teachers". Indonesian Journal of Biology Education 3, n. 2 (1 febbraio 2021): 1. http://dx.doi.org/10.31002/ijobe.v3i2.3201.
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<p><em>This study aims to identify and map patterns of genetic misconceptions in high school biology teachers. This research was conducted in several stages, including the development of diagnostic test instrument with Certainty of Response Index (CRI). The instrument used in measuring misconceptions in this study is a three-tier test diagnostic instrument. There are 20 questions covering Basic Competencies 3.3, 3.5, 3.6, 3.7, and 3.8. The cognitive level of the questions covers C2 to C5 in Bloom Taxonomy. The validator's assessment shows that the instrument is suitable for data collection. The results of data collection indicate that the topics identified as having misconceptions among high school teachers are quite high (above 50%), among others: (1) The relationship between DNA, genes, and chromosomes; (2) Chromosome structure of eukaryotic cells; (3) The process of protein synthesis (transcription, translation, and genetic code); (4) Mendel Law 1; (5) Mendel Law 2; (6) Crossing-Over, Sex-Linkage, and Non-Disjunction; and (7) Causes of Mutations. Apart from misconception data, this study also reveals the experiences of teachers in conducting Biology teaching and learning activities, especially related to Genetics in high school.</em></p>
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O’Neill, Shane. "“To Have Done Again”". Samuel Beckett Today / Aujourd’hui 33, n. 2 (14 settembre 2021): 337–52. http://dx.doi.org/10.1163/18757405-03302014.
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Abstract This essay is a genetic manuscript study of Beckett’s self-translation process. This study will examine how Beckett preserved the still-life attributes of Still in self-translation, and how he maintained the tension between motion and stillness in his translation of Pour finir encore. In Still, readers realise that the figure is not entirely still because of the rise and fall of its chest and the slow movement of its hand. Neither can Beckett impose stillness upon his world in Pour finir encore. By examining manuscripts, patterns of translation will emerge, giving readers a better understanding of the creative processes of self-translation.
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Parnell, Nathan, K. Rye e N. Greenberg. "Health and well-being management in the military: a systematic review of genetic studies". Journal of the Royal Army Medical Corps 164, n. 4 (21 settembre 2017): 302–8. http://dx.doi.org/10.1136/jramc-2017-000765.
Testo completoAbstract (sommario):
BackgroundGenetic research may have therapeutic value for mental and physical disorders and could have an indicative or preventative capacity. Little is known about the extent, form and utility of military-specific genetic research.MethodA systematic review was conducted to evaluate existing genetic well-being studies of service personnel. The review specifically aimed to ascertain the current state of knowledge and feasibility of using genetics to aid recruitment and health management within military populations. Databases searched included MEDLINE, Embase, PsycINFO and Web of Science for relevant studies. Papers were rated using a genetics-specific quality assessment framework.ResultsTen papers were included within the final review, with seven mental-health-focused and three physical-health-focused genetic studies found within military populations. Eight papers considered candidate genes, one gene expression and one study was an outline of a future study of significant interest. Genetic commonalties were derived to yield shared physiological pathways. The 10 reviewed papers revealed moderate quality based on quality assessment.ConclusionsCurrent genetic research within military populations is limited. Further studies on genetics, cost effectiveness, ethics and continual monitoring need to be explored before considering any movement toward clinical translation.
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Perriera, Riccardo, Emanuele Vitale, Ivana Pibiri, Pietro Salvatore Carollo, Davide Ricci, Federica Corrao, Ignazio Fiduccia et al. "Readthrough Approach Using NV Translational Readthrough-Inducing Drugs (TRIDs): A Study of the Possible Off-Target Effects on Natural Termination Codons (NTCs) on TP53 and Housekeeping Gene Expression". International Journal of Molecular Sciences 24, n. 20 (11 ottobre 2023): 15084. http://dx.doi.org/10.3390/ijms242015084.
Testo completoAbstract (sommario):
Nonsense mutations cause several genetic diseases such as cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman–Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functional proteins. The new oxadiazole-core TRIDs NV848, NV914, and NV930 (NV) showed translational readthrough activity in nonsense-related in vitro systems. In this work, the possible off-target effect of NV molecules on natural termination codons (NTCs) was investigated. Two different in vitro approaches were used to assess if the NV molecule treatment induces NTC readthrough: (1) a study of the translational-induced p53 molecular weight and functionality; (2) the evaluation of two housekeeping proteins’ (Cys-C and β2M) molecular weights. Our results showed that the treatment with NV848, NV914, or NV930 did not induce any translation alterations in both experimental systems. The data suggested that NV molecules have a specific action for the PTCs and an undetectable effect on the NTCs.
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Vargas-Rodriguez, Oscar, Ahmed H. Badran, Kyle S. Hoffman, Manyun Chen, Ana Crnković, Yousong Ding, Jonathan R. Krieger, Eric Westhof, Dieter Söll e Sergey Melnikov. "Bacterial translation machinery for deliberate mistranslation of the genetic code". Proceedings of the National Academy of Sciences 118, n. 35 (19 agosto 2021): e2110797118. http://dx.doi.org/10.1073/pnas.2110797118.
Testo completoAbstract (sommario):
Inaccurate expression of the genetic code, also known as mistranslation, is an emerging paradigm in microbial studies. Growing evidence suggests that many microbial pathogens can deliberately mistranslate their genetic code to help invade a host or evade host immune responses. However, discovering different capacities for deliberate mistranslation remains a challenge because each group of pathogens typically employs a unique mistranslation mechanism. In this study, we address this problem by studying duplicated genes of aminoacyl-transfer RNA (tRNA) synthetases. Using bacterial prolyl-tRNA synthetase (ProRS) genes as an example, we identify an anomalous ProRS isoform, ProRSx, and a corresponding tRNA, tRNAProA, that are predominately found in plant pathogens from Streptomyces species. We then show that tRNAProA has an unusual hybrid structure that allows this tRNA to mistranslate alanine codons as proline. Finally, we provide biochemical, genetic, and mass spectrometric evidence that cells which express ProRSx and tRNAProA can translate GCU alanine codons as both alanine and proline. This dual use of alanine codons creates a hidden proteome diversity due to stochastic Ala→Pro mutations in protein sequences. Thus, we show that important plant pathogens are equipped with a tool to alter the identity of their sense codons. This finding reveals the initial example of a natural tRNA synthetase/tRNA pair for dedicated mistranslation of sense codons.
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Osherov, Nir, e Gregory May. "Conidial Germination in Aspergillus nidulans Requires RAS Signaling and Protein Synthesis". Genetics 155, n. 2 (1 giugno 2000): 647–56. http://dx.doi.org/10.1093/genetics/155.2.647.
Testo completoAbstract (sommario):
Abstract The dormant spores of Aspergillus nidulans become competent for growth and nuclear division in a process called conidial germination. To analyze the molecular details of conidial germination, we developed a genetic screen in which we identified spore germination-deficient mutants that are blocked in this process at the restrictive temperature. These mutants defined eight genes, of which we identified five. Four of the five were directly involved in translation and protein folding, and the fifth showed a high degree of homology to a malonyl CoA synthetase. These results suggest that out of a wide array of processes occurring during conidial germination, translation is essential if germination is to proceed. We also show that conidia containing a mutant-activated form of rasA, the ras homologue in A. nidulans, germinate in the absence of an inducing carbon source, suggesting an important role for rasA signaling in conidial germination. Together these data suggest a model by which a carbon source activates a ras-dependent sensory mechanism, inducing translation and leading to conidial germination. This study shows that conidial germination in A. nidulans requires protein synthesis and that the initiation of translation is linked, through an as yet to be determined signaling cascade that includes rasA, to a carbon-source-sensing apparatus.
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Andrecut, M., e S. A. Kauffman. "Noise in Genetic Toggle Switch Models". Journal of Integrative Bioinformatics 3, n. 1 (1 giugno 2006): 63–77. http://dx.doi.org/10.1515/jib-2006-23.
Testo completoAbstract (sommario):
Summary In this paper we study the intrinsic noise effect on the switching behavior of a simple genetic circuit corresponding to the genetic toggle switch model. The numerical results obtained from a noisy mean-field model are compared to those obtained from the stochastic Gillespie simulation of the corresponding system of chemical reactions. Our results show that by using a two step reaction approach for modeling the transcription and translation processes one can make the system to lock in one of the steady states for exponentially long times.
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Lin, Jin, Chuan He, Shuang Shi e Jiongfeng Song. "Heterogeneous isomorphism - Spatial Gene Transcreation Design for Traditional Villages in Hunan". SHS Web of Conferences 167 (2023): 02016. http://dx.doi.org/10.1051/shsconf/202316702016.
Testo completoAbstract (sommario):
This study analyzes the spatial genes of traditional villages by taking Zhang Guying village in northern Hunan Province as an example.Starting from the theory of heterogeneous isomorphism, we discover the methods and paths of identifying, presenting and translating the spatial genes of traditional villages in Hunan region.Through the gene identification extraction method, it analyzes the spatial and cultural genes of Zhang Guying village and obtains the genetic elements and composition of the traditional villages.Based on the design model of gene translation, the “Duanwu family” is systematically analyzed, and it can build a traditional village regeneration and development system.In view of this, his research relies on the application of “heterogeneous isomorphism” theory, which can be obtained from the gene translation method, isomorphic design model.It can promote the regenerative continuation of traditional villages and low-carbon ecological development.
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Mustapha Abdulsalam, Fatima Zarah Yerima Ubah, Hasiya Ummi Ahmed, Ummulkhulthum Ahmed Tafida e Aisha Wada Nasir. "Deciphering the Genetic Code: Mechanisms, Evolution, and Implications for Biotechnology". World Journal of Advanced Research and Reviews 21, n. 1 (30 gennaio 2024): 858–68. http://dx.doi.org/10.30574/wjarr.2024.21.1.2195.
Testo completoAbstract (sommario):
The study of the genetic code explores the foundational language of life, aiming to fathom how DNA orchestrates the synthesis of proteins. This study explores various facets of the genetic code, from the widespread use of the triplet codon system to the vital role of transfer RNA (tRNA) in translation. This study unravels the intricacies of interactions between codons and anticodons, as well as the orchestration of ribosomes, casting illumination on the initiation, elongation, and termination stages of protein synthesis. Furthermore, it delves into the regulatory factors and mechanisms for quality control that wield influence over the translation processes. In the exploration of the genetic code's evolution, the study meticulously examines its universal principles, exceptions, and the compelling conjectures enveloping its origins. The coevolution of tRNA and codons, along with adaptations in the code observed in diverse organisms and organelles, yields valuable insights. Notably, the research underscores the vast biotechnological applications encompassing genetic engineering, codon optimization, and protein design. This study not only addresses uncharted territories in genetic code research but also propounds future research directions. It highlights current challenges and opportunities within this domain, including code expansion and gene editing advancement. Ultimately, the study of the genetic code remains a dynamic, ever-evolving field with profound implications for science, technology, and our comprehension of life's fundamental processes. This research unravels the captivating narrative of the genetic code, revealing novel areas and applications that continue to captivate and inspire.
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Zhu, Ping Jun, Sanjeev Khatiwada, Ya Cui, Lucas C. Reineke, Sean W. Dooling, Jean J. Kim, Wei Li, Peter Walter e Mauro Costa-Mattioli. "Activation of the ISR mediates the behavioral and neurophysiological abnormalities in Down syndrome". Science 366, n. 6467 (14 novembre 2019): 843–49. http://dx.doi.org/10.1126/science.aaw5185.
Testo completoAbstract (sommario):
Down syndrome (DS) is the most common genetic cause of intellectual disability. Protein homeostasis is essential for normal brain function, but little is known about its role in DS pathophysiology. In this study, we found that the integrated stress response (ISR)—a signaling network that maintains proteostasis—was activated in the brains of DS mice and individuals with DS, reprogramming translation. Genetic and pharmacological suppression of the ISR, by inhibiting the ISR-inducing double-stranded RNA–activated protein kinase or boosting the function of the eukaryotic translation initiation factor eIF2-eIF2B complex, reversed the changes in translation and inhibitory synaptic transmission and rescued the synaptic plasticity and long-term memory deficits in DS mice. Thus, the ISR plays a crucial role in DS, which suggests that tuning of the ISR may provide a promising therapeutic intervention.
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Asl, Samaneh Noroozi, Rahim Vakili, Saba Vakili, Fahimeh Soheilipour, Mahin Hashemipour, Sara Ghahramani, Elisa De Franco e Hanieh Yaghootkar. "Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes". Journal of Pediatric Endocrinology and Metabolism 32, n. 6 (26 giugno 2019): 607–13. http://dx.doi.org/10.1515/jpem-2018-0434.
Testo completoAbstract (sommario):
Abstract Background Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysphasia and growth retardation. It is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3). We aimed to study the clinical characteristics and frequency of the disease in the Iranian population. Methods We recruited 42 patients who referred to the endocrine and metabolism clinic at Mashhad Imam Reza Hospital with neonatal diabetes. Molecular screening of KCNJ11, INS, ABCC8 and EIF2AK3 was performed at the Exeter Molecular Genetics Laboratory, UK. We calculated the frequency of the disease in 124 patients referred from Iran to the Exeter Molecular Genetics Laboratory for genetic screening and compared it to other countries worldwide. Results We identified seven patients as having Wolcott-Rallison syndrome. Genetic testing confirmed the clinical diagnosis and indicated five novel mutations. Only two patients developed clinical features of the syndrome by 6 months of age. Of all 124 cases of Iranian neonatal diabetes referred to the Exeter Molecular Genetics Laboratory for genetic screening, 28 patients (22.58%) had a recessive mutation in EIF2AK3. Conclusions The results of this study raises awareness of the condition and provides further accurate data on the genetic and clinical presentation of Wolcott-Rallison syndrome in the Iranian population. Our study highlights the importance of genetic testing in patients from consanguineous families with diabetes diagnosed within the first 6 months of life.
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Nödling, Alexander R., Luke A. Spear, Thomas L. Williams, Louis Y. P. Luk e Yu-Hsuan Tsai. "Using genetically incorporated unnatural amino acids to control protein functions in mammalian cells". Essays in Biochemistry 63, n. 2 (15 maggio 2019): 237–66. http://dx.doi.org/10.1042/ebc20180042.
Testo completoAbstract (sommario):
Abstract Genetic code expansion allows unnatural (non-canonical) amino acid incorporation into proteins of interest by repurposing the cellular translation machinery. The development of this technique has enabled site-specific incorporation of many structurally and chemically diverse amino acids, facilitating a plethora of applications, including protein imaging, engineering, mechanistic and structural investigations, and functional regulation. Particularly, genetic code expansion provides great tools to study mammalian proteins, of which dysregulations often have important implications in health. In recent years, a series of methods has been developed to modulate protein function through genetically incorporated unnatural amino acids. In this review, we will first discuss the basic concept of genetic code expansion and give an up-to-date list of amino acids that can be incorporated into proteins in mammalian cells. We then focus on the use of unnatural amino acids to activate, inhibit, or reversibly modulate protein function by translational, optical or chemical control. The features of each approach will also be highlighted.
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Bhat, Ajay, Rahul Chakraborty, Khushboo Adlakha, Ganesh Agam, Kausik Chakraborty e Shantanu Sengupta. "Ncl1-mediated metabolic rewiring critical during metabolic stress". Life Science Alliance 2, n. 4 (agosto 2019): e201900360. http://dx.doi.org/10.26508/lsa.201900360.
Testo completoAbstract (sommario):
Nutritional limitation has been vastly studied; however, there is limited knowledge of how cells maintain homeostasis in excess nutrients. In this study, using yeast as a model system, we show that some amino acids are toxic at higher concentrations. With cysteine as a physiologically relevant example, we delineated the pathways/processes that are altered and those that are involved in survival in the presence of elevated levels of this amino acid. Using proteomics and metabolomics approach, we found that cysteine up-regulates proteins involved in amino acid metabolism, alters amino acid levels, and inhibits protein translation—events that are rescued by leucine supplementation. Through a comprehensive genetic screen, we show that leucine-mediated effect depends on a transfer RNA methyltransferase (NCL1), absence of which decouples transcription and translation in the cell, inhibits the conversion of leucine to ketoisocaproate, and leads to tricarboxylic acid cycle block. We therefore propose a role of NCL1 in regulating metabolic homeostasis through translational control.
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Clapp, Averill, Carrie J. Shawber e June K. Wu. "Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions". Journal of Vascular Anomalies 4, n. 3 (10 luglio 2023): e069. http://dx.doi.org/10.1097/jova.0000000000000069.
Testo completoAbstract (sommario):
Background: Slow-flow vascular malformations include venous, lymphatic, and lymphaticovenous malformations. Recent studies have linked genetic variants hyperactivating either the PI3K/AKT/mTOR and/or RAS/RAF/MAPK signaling pathways with slow-flow vascular malformation development, leading to the use of pharmacotherapies such as sirolimus and alpelisib. It is important that clinicians understand basic and translational research advances in slow-flow vascular malformations. Methods: A literature review of basic science publications in slow-flow vascular malformations was performed on Pubmed, using search terms “venous malformation,” “lymphatic malformation,” “lymphaticovenous malformation,” “genetic variant,” “genetic mutation,” “endothelial cells,” and “animal model.” Relevant publications were reviewed and summarized. Results: The study of patient tissues and the use of primary pathogenic endothelial cells from vascular malformations shed light on their pathological behaviors, such as endothelial cell hyperproliferation and disruptions in vessel architecture. The use of xenograft and transgenic animal models confirmed the pathogenicity of genetic variants and allowed for preclinical testing of potential therapies. These discoveries underscore the importance of basic and translational research in understanding the pathophysiology of vascular malformations, which will allow for the development of improved biologically targeted treatments. Conclusion: Despite basic and translation advances, a cure for slow-flow vascular malformations remains elusive. Many questions remain unanswered, including how genotype variants result in phenotypes, and genotype-phenotype heterogeneity. Continued research into venous and lymphatic malformation pathobiology is critical in understanding the mechanisms by which genetic variants contribute to vascular malformation phenotypic features.
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Gataullina, Veronika Lyubimovna, e Nataliya Gennadyevna Nikolaeva. "Pre-metric units of length in the works of Russian and German writers and their translation". Philology. Issues of Theory and Practice 16, n. 12 (13 dicembre 2023): 4226–32. http://dx.doi.org/10.30853/phil20230643.
Testo completoAbstract (sommario):
The aim of the study is to typologize the translation of the names of pre-metric units of length in Russian and German fiction by identifying common semantic transformations. The scientific novelty of the study lies in examining pre-metric units of length in the genetic, semantic and functional aspects. At the genetic level, the role of the anthropometric factor in the formation of such names is confirmed. At the semantic level, the commonality of transformational processes in the history of education and functioning of the vocabulary under consideration is investigated. At the functional level, translation techniques are analyzed in relation to the words selected for analysis in a broad literary context. A comprehensive study of this kind, combining the importance and mutual influence of all these levels, is being carried out for the first time. As a result, the commonality of semantic transformations in the sphere of the vocabulary in question (from the metonymic process, which virtually forms this lexical group, to the metaphorical process defining their new, abstract meaning) and, in particular, its inclusion in the processes of phraseologization are confirmed. The study also reveals how and to what extent the variety of translation modes reflects the semantic nuances of the vocabulary under consideration.
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Ong, Cheryl Siow Bin, Rose Wai‑Yee Fok, Ryo Chee Ann Tan, Si Ming Fung, Shirley Sun e Joanne Yuen Yie Ngeow. "General practitioners’ (GPs) experience, attitudes and needs on clinical genetic services: a systematic review". Family Medicine and Community Health 10, n. 4 (novembre 2022): e001515. http://dx.doi.org/10.1136/fmch-2021-001515.
Testo completoAbstract (sommario):
ObjectiveThe proliferation and growing demands of genetic testing are anticipated to revolutionise medical practice. As gatekeepers of healthcare systems, general practitioners (GPs) are expected to play a critical role in the provision of clinical genetic services. This paper aims to review existing literature on GPs’ experience, attitudes and needs towards clinical genetic services.DesignA systematic mixed studies review of papers published between 2010 and 2022.Eligibility criteriaThe inclusion criterion was peer-reviewed articles in English and related to GPs’ experience, views and needs on any genetic testing.Information sourcesThe PubMed, PsycINFO, Cochrane, EMBASE databases were searched using Mesh terms, Boolean and wildcards combinations to identify peer-reviewed articles published from 2010 to 2022. Study quality was assessed using Mixed Methods Appraisal Tool. Only articles that fulfilled the inclusion criteria were selected. A thematic meta-synthesis was conducted on the final sample of selected articles to identify key themes.ResultsA total of 62 articles were included in the review. Uncertainty over GPs’ role in providing genetic services were attributed by the lack of confidence and time constraints and rarity of cases may further exacerbate their reluctance to shoulder an expanded role in clinical genetics. Although educational interventions were found to increasing GPs’ knowledge and confidence to carry out genetic tasks, varied interest on genetic testing and preference for a shared care model with other genetic health professionals have resulted in minimal translation to clinical adoption.ConclusionThis review highlights the need for deeper exploration of GPs’ varied experience and attitudes towards clinical genetic services to better facilitate targeted intervention in the adoption of clinical genetics.
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Herlina, Lina, Reflinur Reflinur, Sobir Sobir, Awang Maharijaya, Suryo Wiyono e Bonjok Istiaji. "GENETIC DIVERSITY OF INDONESIAN SHALLOTS BASED ON BULB-TUNIC PATTERNS AND MORPHOLOGICAL CHARACTERS". Indonesian Journal of Agricultural Science 20, n. 1 (29 giugno 2019): 19. http://dx.doi.org/10.21082/ijas.v20n1.2019.p19-28.
Testo completoAbstract (sommario):
<p class="abstrakinggris"><span class="tlid-translation">Variation within bulb tunics has been used to determine the genetic diversity in <em>Allium</em> species, including shallots</span><span class="tlid-translation"><span>. </span></span>However, no such study has been reported for shallots of Indonesia. The study aimed to analyze the genetic diversity of the Indonesian shallots based on the bulb-tunic patterns. Thirty-five shallot genotypes from main production centers in Indonesia were used. The ultrasculptures of the bulb tunics were examined by light microscopy, including the inner surface and cell shape patterns of the bulb tunics. The phenotypic data, i.e. quantitative and qualitative traits were subjected to the descriptive statistics, principal component, correlation, regression, and clustering analyses. The results showed that the bulb-tunic cell patterns were varied, which shared almost identical with 13 <em>Allium</em> species. Total bulb weight per genotype showed the greatest variation (cv = 89.10%) and significant correlation with bulb weight per plant (r = 0.773). The principle component analyses showed the cumulative proportion of 78% of the total morphological variation in all shallot genotypes. Based on clustering analysis, the genetic variation of Indonesian shallots are grouped into twelve clusters with 50% genetic similarity. The study indicates that Indonesian shallots are genetically varied and could be useful for further utilization in their genetic improvement program.</p>
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Wang, Chuande, Lina Lezhneva, Nadège Arnal, Martine Quadrado e Hakim Mireau. "The radish Ogura fertility restorer impedes translation elongation along its cognate CMS-causing mRNA". Proceedings of the National Academy of Sciences 118, n. 35 (25 agosto 2021): e2105274118. http://dx.doi.org/10.1073/pnas.2105274118.
Testo completoAbstract (sommario):
The control of messenger RNA (mRNA) translation has been increasingly recognized as a key regulatory step for gene control, but clear examples in eukaryotes are still scarce. Nucleo-cytoplasmic male sterilities (CMS) represent ideal genetic models to dissect genetic interactions between the mitochondria and the nucleus in plants. This trait is determined by specific mitochondrial genes and is associated with a pollen sterility phenotype that can be suppressed by nuclear genes known as restorer-of-fertility (Rf). In this study, we focused on the Ogura CMS system in rapeseed and showed that reversion to male sterility by the PPR-B fertility restorer (also called Rfo) occurs through a specific translation inhibition of the mitochondria-encoded CMS-causing mRNA orf138. We also demonstrate that PPR-B binds within the coding sequence of orf138 and acts as a ribosome blocker to specifically impede translation elongation along the orf138 mRNA. Rfo is the first recognized fertility restorer shown to act this way. These observations will certainly facilitate the development of synthetic fertility restorers for CMS systems in which efficient natural Rfs are lacking.
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Nurse, Jalisa, Aubee Joseph e Karl M. Thompson. "444 Post-translational role of RNA modifications in sRNA chaperone Hfq". Journal of Clinical and Translational Science 6, s1 (aprile 2022): 88. http://dx.doi.org/10.1017/cts.2022.260.
Testo completoAbstract (sommario):
OBJECTIVES/GOALS: The goal of this study is to determine the role of the tRNA modifications in the translation of Hfq. Hfq is an RNA chaperone that acts as a co-factor for the action of the largest class of small RNAs in E. coli. RNA modifications have been known to play critical roles in the translational fidelity of many cellular proteins in bacteria. METHODS/STUDY POPULATION: In this study, we used an hfq-lacZ translation fusion to screen several RNA modification mutant genes to uncover additional RNA modifications that may play a role in Hfq translation. We measured hfq-lacZ activity in genetic backgrounds mutated for several additional RNA modification enzymes previously untested for Hfq effects. RESULTS/ANTICIPATED RESULTS: We identified 5 RNA modification genes that were defective for hfq-lacZ fusion activity, and we subsequently performed western blot analysis on the Hfq protein in the absence of these modification mutant genes to determine the effect of these mutants more directly on Hfq protein levels. We identified 2 out of these 5 RNA modification mutants that also affect Hfq protein levels. DISCUSSION/SIGNIFICANCE: Since Hfq is critically important for small RNA function is a wide range of bacteria, it is possible tRNA modifications regulate Hfq expression in other bacteria. These processes, when further investigated, could provide us with the basic information to develop new antibiotics needed to address emerging antibiotic resistance.
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Yoshida, Akiko, Tomoharu Tokutomi, Akimune Fukushima, Robert Chapman, Fatos Selita, Yulia Kovas e Makoto Sasaki. "Japanese Translation and Validation of Genomic Knowledge Measure in the International Genetics Literacy and Attitudes Survey (iGLAS-GK)". Genes 14, n. 4 (28 marzo 2023): 814. http://dx.doi.org/10.3390/genes14040814.
Testo completoAbstract (sommario):
Knowledge of genetics is essential for understanding the results of genetic testing and its implications. Recent advances in genomic research have allowed us to predict the risk of onset of common diseases based on individual genomic information. It is anticipated that more people will receive such estimates of risks based on their genomic data. However, currently, there is no measure for genetic knowledge that includes post-genome sequencing advancements in Japan. In this study, we translated the genomic knowledge measure in the International Genetics Literacy and Attitudes Survey (iGLAS-GK) into Japanese and validated it in a general Japanese adult population (n = 463). The mean score was 8.41 (SD 2.56, range 3–17). The skewness and kurtosis were 0.534 and 0.088, respectively, and the distribution showed a slightly positive skewness. Exploratory factor analysis proposed a six-factor model. Results for 16 of the 20 items of the Japanese version of the iGLAS-GK were comparable to those from previous studies in other populations. These results indicate that the Japanese version is reliable and can be used to measure the genomic knowledge of adults in the general population, and this version of the knowledge measure maintains the multidimensional structure for assessing genomic knowledge.
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Liu, Guobing, e Qianwen Jiao. "Does Conceptual Integration Theory Work? A Case Study of the English Translation of Culture-Loaded Terms in Chinese Government Work Report". Theory and Practice in Language Studies 13, n. 7 (1 luglio 2023): 1817–27. http://dx.doi.org/10.17507/tpls.1307.27.
Testo completoAbstract (sommario):
Currently, the emphasis of research on culture-loaded terminology in the Chinese Government Work Report lies in developing translation strategies, with limited analysis of the cognitive process that translators undergo during the translation process. However, Conceptual Integration Theory has gained significant attention in recent years for its effectiveness in analyzing cognitive activities. This paper employs the Conceptual Integration Theory as a theoretical framework to analyze culture-loaded terms in the Chinese Government Work Report. This analysis involves the use of the conceptual integration network, including generic space, cross-space mapping, selective projection, blending, and emergent structure, as well as the construction of mental spaces. It has been found: (1) Translators utilized four mental spaces, namely the original terms space, translator space, generic space, and translation space. Through cross-space mapping, the original terms space and translator space projected a shared, abstract structure and organization into the generic space. The elements of the original terms space and translator space were then projected into the translation space within the constraints of the generic space. (2) The simplex network is unsuitable for translating these terms, while the other three conceptual integration networks do. Translating these terms with a mirror network is deemed to be the simplest method, while the two-scope network is the most complex. This paper aims to illustrate the thinking process of translators and offer suggestions for translating these terms.
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Ueguchi, Chiharu, Naoko Misonou e Takeshi Mizuno. "Negative Control of rpoS Expression by Phosphoenolpyruvate:Carbohydrate Phosphotransferase System inEscherichia coli". Journal of Bacteriology 183, n. 2 (15 gennaio 2001): 520–27. http://dx.doi.org/10.1128/jb.183.2.520-527.2001.
Testo completoAbstract (sommario):
ABSTRACT The ςS (or ς38) subunit of RNA polymerase, encoded by the rpoS gene, is a crucial regulator in the transcriptional control of a set of genes under stressful conditions, such as nutrient starvation. The expression ofrpoS is regulated in a complex manner at the levels of transcription, translation, and stability of the product. Although a number of factors involved in the regulation of rpoSexpression have been identified, the underlying molecular mechanisms are not fully understood. In this study, we identified the Crr (or EIIAGlc) protein as a novel factor that plays an important role not only in the transcriptional control but also in the translational control of rpoS expression. Crr is an important component in glucose uptake through the well-characterized phosphoenolpyruvate:carbohydrate phosphotransferase system. The results of a series of genetic analyses revealed that Crr negatively controlsrpoS translation and transcription. The observed transcriptional control by Crr appears to be mediated by cyclic AMP. However, it was found that Crr negatively controls rpoStranslation rather directly. These results suggest a possible linkage between the control of rpoS expression and carbon metabolism.
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Saurer, Martin, Marc Leibundgut, Hima Priyanka Nadimpalli, Alain Scaiola, Tanja Schönhut, Richard G. Lee, Stefan J. Siira et al. "Molecular basis of translation termination at noncanonical stop codons in human mitochondria". Science 380, n. 6644 (5 maggio 2023): 531–36. http://dx.doi.org/10.1126/science.adf9890.
Testo completoAbstract (sommario):
The genetic code that specifies the identity of amino acids incorporated into proteins during protein synthesis is almost universally conserved. Mitochondrial genomes feature deviations from the standard genetic code, including the reassignment of two arginine codons to stop codons. The protein required for translation termination at these noncanonical stop codons to release the newly synthesized polypeptides is not currently known. In this study, we used gene editing and ribosomal profiling in combination with cryo–electron microscopy to establish that mitochondrial release factor 1 (mtRF1) detects noncanonical stop codons in human mitochondria by a previously unknown mechanism of codon recognition. We discovered that binding of mtRF1 to the decoding center of the ribosome stabilizes a highly unusual conformation in the messenger RNA in which the ribosomal RNA participates in specific recognition of the noncanonical stop codons.
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Yartseva, A., R. Devillers, H. Klaudel e F. Képès. "From MIN model to ordinary differential equations". Journal of Integrative Bioinformatics 4, n. 3 (1 dicembre 2007): 15–26. http://dx.doi.org/10.1515/jib-2007-61.
Testo completoAbstract (sommario):
Summary Biological interaction networks can be modeled using the Modular Interaction Network (MIN) formalism, which provides an intermediary modeling level between the biological and mathematical ones. MIN focuses on a simple but structured and versatile representation of biological knowledge, without targeting a particular analysis or simulation technique. In this paper, we propose a translation procedure which, starting from a MIN specification of a biological system, generates its representation in ordinary differential equations (ODEs) allowing to study the dynamics of the system. The translation is illustrated on a classical benchmark: the λ phage genetic switch.
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Alonso, Lorena, Ignasi Morán, Cecilia Salvoro e David Torrents. "In Search of Complex Disease Risk through Genome Wide Association Studies". Mathematics 9, n. 23 (30 novembre 2021): 3083. http://dx.doi.org/10.3390/math9233083.
Testo completoAbstract (sommario):
The identification and characterisation of genomic changes (variants) that can lead to human diseases is one of the central aims of biomedical research. The generation of catalogues of genetic variants that have an impact on specific diseases is the basis of Personalised Medicine, where diagnoses and treatment protocols are selected according to each patient’s profile. In this context, the study of complex diseases, such as Type 2 diabetes or cardiovascular alterations, is fundamental. However, these diseases result from the combination of multiple genetic and environmental factors, which makes the discovery of causal variants particularly challenging at a statistical and computational level. Genome-Wide Association Studies (GWAS), which are based on the statistical analysis of genetic variant frequencies across non-diseased and diseased individuals, have been successful in finding genetic variants that are associated to specific diseases or phenotypic traits. But GWAS methodology is limited when considering important genetic aspects of the disease and has not yet resulted in meaningful translation to clinical practice. This review presents an outlook on the study of the link between genetics and complex phenotypes. We first present an overview of the past and current statistical methods used in the field. Next, we discuss current practices and their main limitations. Finally, we describe the open challenges that remain and that might benefit greatly from further mathematical developments.
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Vasylyshyn, Igor P. "EXISTENTIAL IMAGES AND NARRATIVES IN RILKE`S POETRY (Bogdan Kravtsiv`s translation experience)". Alfred Nobel University Journal of Philology 2, n. 24 (20 dicembre 2022): 63–81. http://dx.doi.org/10.32342/2523-4463-2022-2-24-6.
Testo completoAbstract (sommario):
In 1947, in the German city of Nuremberg, Bohdan Kravtsiv`s book of translations from Rainer Maria Rilke`s “Things and Images” was published, which became a significant contribution to Ukrainian Rilkeanism. B. Kravtsiv`s translations were highly appreciated by critics and literary experts. The purpose of the article is the study of Rilke images and narratives in Bohdan Kravtsiv’s translations, the analysis of the main concepts related to the ideological and thematic layers of the lyrics that B. Kravtsiv chose for translation, and the highlighting of the existential discourse as a translation phenomenon that enabled him to introduce Rainer Maria Rilke’s poems in the Ukrainian artistic context. To achieve this goal, a number of methods were used: biographical (aimed at tracing Rilke`s spiritual and cultural ties with Ukraine during his journey through its territory), cultural-historical, philological, and intertextual. The phenomenological and hermeneutic analysis enables the study of existential discourse in Rilke`s lyrics and immanent interpretation in Kravtsiv`s translations of Rilke`s idiostyle and artistic-philosophical concepts. The elements of conceptual analysis make it possible to consider Rilke`s poetry in translations by Bohdan Kravtsiv, highlighting the main concepts that determine its cultural-artistic and existential-philosophical content. B. Kravtsiv paid particular attention to Rilke`s poems related to biblical and evangelical subjects: “Departure of the Prodigal Son”, “David Sings to Saul”, “Pieta”, “Resurrected”, “The Supper”. B. Kravtsiv translated a number of poems from ancient themes (“Sibyl”, “Orpheus. Eurydice. Hermes”, “Leda”, “Esther”, “Cretan Artemis”, “Alcestis”, “Islands of the Sirens”) since ancient mythology had an important place in Rilke`s artistic outlook. It’s a part of his artistic and metaphysical world, the heart of his existence. The metaphysical concept of the finitude of life evolved through all the lyrical-philosophical cycles of the Austrian poet, in which the lexical-semantic field of the concept of “death” is creatively implemented through ideas and motifs. Bohdan Kravtsiv translated several of Rilke`s poems “Experience with Death”, “Death of a Beloved”, and “The End”, in which the philosophical idea that the Italian existentialist philosopher Nicola Abbagiano defined as coexistence can be clearly traced. During the analysis of the artistic concept sphere and leitmotifs in Bohdan Kravtsiv`s translations, it is worth highlighting the nostalgia of the poetry “This is where the extreme huts are already”, the suggestiveness of “The Archaic Torso of Apollo”, the phantasmagoric nature of “The Sorcerer”, the existential elegiacism of “Evening”, the mysticism of “Alien”, the belief in the immortality of “Autumn”, the artistic plasticity of “Panthers”, the carnival enchantment of “Carousel”, the exquisite, subtle eroticism of “Ladies”, the magical fatalism of “Courtesy”, the metaphysics of life and death in “Experience with Death”, autobiography and delving into the subconscious in the poems “At the piano”, “From childhood”, the secret of art in “The Poet”, the young chivalrous romance of “The Boy”, the wild grace of “Cretan Artemis”. Conclusion. In the selected translations, Bohdan Kravtsiv managed to artistically recreate Rilke images, especially from ancient (Alquesta, Orpheus) and biblical (Jesus Christ, Mary Magdalene) themes, which appeared in the Austrian poet`s lyrics as archetypal images-symbols and images-ideas, defining the spiritual, philosophical and axiological basis of his creativity. Among the multifaceted conceptual sphere, Rilke chose Kravtsiv for the translation of poetry in which he substantiates the concept of “death” from an existential-philosophical point of view as a phenomenon of coexistence that changes one dimension of existence to another, which can also be traced in the narrative of the Austrian poet: death as “invisible and unenlightened we are the side of life”, – immanent in life itself. In the poems selected for translation, Kravtsiv managed to trace the path of the Austrian artist through catharsis to spiritual insight, self-awareness, and the search for authentic values of being. To introduce Rilke`s existential discourse into the Ukrainian artistic context, to give a number of translated poems a special national sound and philosophical content allowed the writer to work with the Ukrainian word, search and restore authentic books, archaic and dialect lexemes, occasionalism, which received a new sound in the translator`s artistic style, supplementing Rilke texts poetics. The translation activity of B. Kravtsiv became a significant contribution to the development of Ukrainian literature and culture in general, enriching it with ideas, concepts, artistic motifs, and the artistic word of one of the most brilliant modern poets – Rainer Maria Rilke. The analysis of Ukrainian writer’s poetic translations in the book “Things and Images” has the perspective of both literary and linguistic research and involves the creation of a thorough scientific work. While working on translations of Rilke`s poems, B. Kravtsiv, in his characteristic artistic and poetic style, uses a significant amount of book, archaic and dialect vocabulary, and occasionalism, which appear to him not only as artistic and aesthetic means of poetic expression, but are also filled with deep-rooted national meaning, contain the genetic code of an authentic Ukrainian word. Bohdan Kravtsiv managed to do Rilke translations so Ukrainian, because he felt the spiritual kinship of the Austrian poet with Ukraine and its people, that as an artist, philosophermetaphysician, and pantheist, having visited Ukrainian lands, he felt, understood, and realized the true spiritual and genetic roots of the European community.
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Kita, Hajime. "A Comparison Study of Self-Adaptation in Evolution Strategies and Real-Coded Genetic Algorithms". Evolutionary Computation 9, n. 2 (giugno 2001): 223–41. http://dx.doi.org/10.1162/106365601750190415.
Testo completoAbstract (sommario):
This paper discusses the self-adaptive mechanisms of evolution strategies (ES) and real-coded genetic algorithms (RCGA) for optimization in continuous search spaces. For multi-membered evolution strategies, a self-adaptive mechanism of mutation parameters has been proposed by Schwefel. It introduces parameters such as standard deviations of the normal distribution for mutation into the genetic code and lets them evolve by selection as well as the decision variables. In the RCGA, crossover or recombination is used mainly for search. It utilizes information on several individuals to generate novel search points, and therefore, it can generate offspring adaptively according to the distribution of parents without any adaptive parameters. The present paper discusses characteristics of these two self-adaptive mechanisms through numerical experiments. The self-adaptive characteristics such as translation, enlargement, focusing, and directing of the distribution of children generated by the ES and the RCGA are examined through experiments.
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Kawecka, Agata, e Rafał Zarębski. "Linguistic Equivalence of the Hebrew Term Eden in Slavic Translations of the Bible". Studia Ceranea 6 (30 dicembre 2016): 43–60. http://dx.doi.org/10.18778/2084-140x.06.03.
Testo completoAbstract (sommario):
The authors study different equivalents of the Hebrew word Eden in selected old and new Slavic translations of the Bible. The equivalents of this lexeme have been excerpted from several Slavic translations of the Bible, which were selected on the basis of diverse criteria. The translations are presented chronologically and old translations are opposed to the new ones. They represent three groups of Slavic languages: West Slavic, East Slavic and South Slavic and are connected with the base of translation, i.e. the original text and/or Greek or Latin text. They can also be classified according to religious denomination and the strategy of the translation.The observation of those equivalents enables us to see not only their variety and mutual influence among translations but also the struggle of Slavic translators with a very difficult language matter. Many factors were important in that struggle: genetic and structural distances between Semitic and Slavic languages, different perceptions of reality in distant cultures, the discrepancy between biblical and Slavonic realities and the influence of religious denomination. Another important factor was the state of biblical knowledge at the time – incomparably poorer in the case of the oldest Slavic translations in comparison to modern ones.
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Karlin, Eric F. "A Comparison of Entropic Diversity and Variance in the Study of Population Structure". Entropy 25, n. 3 (13 marzo 2023): 492. http://dx.doi.org/10.3390/e25030492.
Testo completoAbstract (sommario):
AMOVA is a widely used approach that focuses on variance within and among strata to study the hierarchical genetic structure of populations. The recently developed Shannon Informational Diversity Translation Analysis (SIDTA) instead tackles exploration of hierarchical genetic structure using entropic allelic diversity. A mix of artificial and natural population data sets (including allopolyploids) is used to compare the performance of SIDTA (a ‘q = 1’ diversity measure) vs. AMOVA (a ‘q = 2’ measure) under different conditions. An additive allelic differentiation index based on entropic allelic diversity measuring the mean difference among populations (ΩAP) was developed to facilitate the comparison of SIDTA with AMOVA. These analyses show that the genetic population structure seen by AMOVA is notably different in many ways from that provided by SIDTA, and the extent of this difference is greatly affected by the stability of the markers employed. Negative among group values are lacking with SIDTA but occur with AMOVA, especially with allopolyploids. To provide more focus on measuring allelic differentiation among populations, additional measures were also tested including Bray–Curtis Genetic Differentiation (BCGD) and several expected heterozygosity-based indices (e.g., GST, G″ST, Jost’s D, and DEST). Corrections, such as almost unbiased estimators, that were designed to work with heterozygosity-based fixation indices (e.g., FST, GST) are problematic when applied to differentiation indices (eg., DEST, G″ST, G′STH).
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Wang, Tong-Yun, Guo-Ju Sang, Qian Wang, Chao-Liang Leng, Zhi-Jun Tian, Jin-Mei Peng, Shu-Jie Wang et al. "Generation of Premature Termination Codon (PTC)-Harboring Pseudorabies Virus (PRV) via Genetic Code Expansion Technology". Viruses 14, n. 3 (10 marzo 2022): 572. http://dx.doi.org/10.3390/v14030572.
Testo completoAbstract (sommario):
Despite many efforts and diverse approaches, developing an effective herpesvirus vaccine remains a great challenge. Traditional inactivated and live-attenuated vaccines always raise efficacy or safety concerns. This study used Pseudorabies virus (PRV), a swine herpes virus, as a model. We attempted to develop a live but replication-incompetent PRV by genetic code expansion (GCE) technology. Premature termination codon (PTC) harboring PRV was successfully rescued in the presence of orthogonal system MbpylRS/tRNAPyl pair and unnatural amino acids (UAA). However, UAA incorporating efficacy seemed extremely low in our engineered PRV PTC virus. Furthermore, we failed to establish a stable transgenic cell line containing orthogonal translation machinery for PTC virus replication, and we demonstrated that orthogonal tRNAPyl is a key limiting factor. This study is the first to demonstrate that orthogonal translation system-mediated amber codon suppression strategy could precisely control PRV-PTC engineered virus replication. To our knowledge, this is the first reported PTC herpesvirus generated by GCE technology. Our work provides a proof-of-concept for generating UAAs-controlled PRV-PTC virus, which can be used as a safe and effective vaccine.