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1
Sutton, Agneta. « Editing della linea germinale : quali sono i rischi sociali e morali ? / Germ-line gene editing : What are the social and moral risks ? » Medicina e Morale 65, no 2 (21 septembre 2016) : 123–30. http://dx.doi.org/10.4081/mem.2016.430.
Texte intégralRésumé :
Dovremmo accogliere tutti i possibili sviluppi dell’editing genetico? L’editing genetico delle cellule somatiche potrebbe essere considerato alla pari delle terapie convenzionali volte a trattare particolari patologie o ad alleviarne i sintomi. Tale intervento interesserebbe esclusivamente il singolo paziente trattato. Esso potrebbe quindi essere ben accolto come un nuovo tipo di trattamento per i tumori e le malattie del sangue, come ad esempio la beta-talassemia. Diversamente, l’editing della linea germinale avrebbe effetti ereditari. Ciò solleva preoccupazioni particolari riguardo al rischio medico. I rischi medici non sono, tuttavia, gli unici tipi di rischi che possono derivare dalla modificazione genetica della linea germinale. Nel contributo non vengono discussi i rischi medici, ma quelli sociali e morali correlati alla manipolazione genetica della linea-germinale. ---------- Should we welcome all developments in gene editing? Somatic cell gene editing would be on a par with conventional therapies aimed at treating particular conditions or alleviating symptoms. It would solely affect the individual patient treated. It could thus serve as a welcome new kind of treatment for cancers and blood diseases such as ß-thalassaemia. Germ-line gene editing, on the other hand, would have hereditary effects. This raises special concerns about medical mishaps. Medical risks are, however, not the only kinds of risks in the case of germline gene editing. Discussed here are not the medical risks, but the social and moral risks of germ-line-gene editing.
2
Refolo, Pietro, Vincenzo L. Pascali et Antonio G. Spagnolo. « Editing genetico : nuova questione bioetica ? / Gene editing : a new issue for Bioethics ? » Medicina e Morale 66, no 3 (3 juillet 2017) : 291–304. http://dx.doi.org/10.4081/mem.2017.493.
Texte intégralRésumé :
Modificazioni controllate nel genoma sono possibili, tramite svariate tecniche, sin dagli anni ’70. Nucleasi a dito di zinco, nucleasi TALE, ma soprattutto CRISPR-Cas9 sono tecniche di editing genetico che hanno reso più semplice effettuarle. Il sistema CRISPR-Cas9, in particolare, si sta dimostrando estremamente vantaggioso in termini di accessibilità, efficienza e versatilità. Gli obiettivi del presente contributo consistono nel: 1. ricostruire i “fatti” salienti che hanno determinato l’emergere del topic dell’“editing genetico”; 2. provare a dar risposta a un primo fondamentale interrogativo circa l’originalità dei dilemmi etici da esso sollevato con particolare riferimento al CRISPR-Cas9. La conclusione è che, allo stato attuale, l’impiego di queste nuove tecniche non solleva questioni etiche nuove. L’unica eccezione sembrerebbe essere data dal particolare tipo di mutazioni indotte da queste tecniche, indistinguibili a lungo termine da quelle prodotte dalla natura, fatto che sta già determinando qualche difficoltà nella classificazione degli OGM ottenuti tramite queste tecniche. ---------- Controlled genome mutations are made possible through several techniques since the ’70s. Zinc finger nucleases, TALE nucleases and above all CRISPR-Cas9 system are “gene editing” techniques which have made mutations easier. Particularly, CRISPR-Cas9 system seems to be extremely profitable in terms of accessibility, efficiency and versatility. The aims of the present article are: 1. to reconstruct the main “facts” about the birth of the topic on “gene editing”; to seek to answer a first question about the novelty of issues raised by this topic. Our conclusion is that, from an ethical point of view, using these techniques does not raise new ethical questions. Perhaps, the only exception refers to the specific mutations produced through these techniques which cannot be distinguished from natural mutations and makes GMO classification more difficult.
3
Gentile, A., et S. La Malfa. « Il miglioramento genetico per la resistenza agli insetti : una sfida difficile ed attuale ». Bullettin of the Gioenia Academy of Natural Sciences of Catania 52, no 382/SFE (22 décembre 2019) : DECA10—DECA16. http://dx.doi.org/10.35352/gioenia.v52i382/sfe.80.
Texte intégralRésumé :
Nello scenario di una nuova agricoltura, le tecniche di miglioramento genetico sono chiamate a svolgere un ruolo importante al fine di rendere i processi produttivi sostenibili anche sotto il profilo ambientale ed economico. Nei prossimi anni sarà necessario produrre di più in condizioni di risorse naturali decrescenti e al tempo stesso assicurare produzioni anche attraverso una riduzione degli input chimici. Negli ultimi cinquant’anni l’integrazione di diverse tecniche e lo sviluppo di metodi di rigenerazione in vitro e di strategie molecolari ha consentito la definizione di nuovi strumenti di miglioramento genetico. Le conoscenze genomiche degli ultimi decenni hanno, infatti, innovato gli strumenti per la realizzazione di programmi di miglioramento genetico, sia in termini di disponibilità di marcatori per selezione assistita o per selezione genomica, sia in termini di conoscenze sulla funzione dei geni responsabili di caratteri agronomici fondamentali, tra i quali la resistenza a stress biotici. I nuovi metodi molecolari, che consentono di ottenere piante cisgeniche, o con sequenze modificate mediante genome editing, si affiancano ai metodi tradizionali di miglioramento genetico superando i limiti dell’incrocio e della selezione, soprattutto con riferimento alla lunghezza dei tempi ed alla impossibilità di prevederne il risultato in termini di caratteristiche modificate. Nella nota vengono descritti i principali metodi di miglioramento genetico e le principali strategie utilizzabili per migliorare la resistenza delle piante agli insetti.
4
Grion, Luca. « Post human e gene editing : riflessioni su perfezione e senso del limite ». Medicina e Morale 68, no 4 (20 décembre 2019) : 423–36. http://dx.doi.org/10.4081/mem.2019.597.
Texte intégralRésumé :
A partire dalle opportunità terapeutiche e potenzianti dischiuse dalle recenti tecniche di editing genetico, il saggio si interroga sul senso umano della fragilità e sul desiderio di miglioramento che, da sempre, accompagna l’esperienza umana. Al centro della riflessione, che mette in dialogo innovazione tecnologica e riflessione antropologica, vi è la nozione di limite, da alcuni considerato come un male da rimuovere e, da altri, come una condizione essenziale da accogliere. Dopo aver ricostruito i termini essenziali del dibattito, nelle sue battute conclusive il saggio suggerisce la necessità di prendere posizione tra mito della perfezione e vocazione al compimento: ci vuole umiltà per accettarsi per ciò che si è, senza lasciarsi tentare dell’idea di un’umanità perfetta e invulnerabile; ci vuole coraggio per sfidare gli ostacoli che impediscono alla persona di fiorire in pienezza.
5
Viglianisi Ferraro, Angelo, André Gonçalo Dias Pereira et Antonio Casciano. « I NUOVI ORIZZONTI DELLA SPERIMENTAZIONE SUGLI ESSERI UMANI E SUGLI EMBRIONI ED I MOLTI INTERROGATIVI ETICO-GIURIDICI ANCORA DA SCIOGLIERE ». Revista Direitos Fundamentais & ; Democracia 26, no 1 (29 avril 2021) : 135–60. http://dx.doi.org/10.25192/issn.1982-0496.rdfd.v26i12193.
Texte intégralRésumé :
La possibilità di manipolare il genoma umano non è mai stata così vicina, come lo è oggi grazie alla recente evoluzione della tecnologia CRISPR. Le opportunità di superare i problemi di salute o migliorare gli esseri umani sono in esponenziale aumento. Pertanto, il dibattito sulla terapia genica nelle persone umane e negli embrioni umani non è solo un tema rilevante discusso nel mondo accademico, ma un imperativo di urgenza in tutta la società. L’articolo muove dal considerare dapprima il quadro normativo offerto dalle diverse convenzioni internazionali esistenti in materia – con un particolare focus dedicato alla legislazione portoghese ed italiana – al fine di far emergere i principi, per lo più di carattere negativo, che ispirano la disciplina in tema di editing genetico. La riflessione si sposta poi sulla considerazione della tematica relativa alla sperimentazione sugli embrioni umani, i cui limiti, nei diversi Stati, risentono della diversità delle visioni morali con le quali si affronta la questione della dignità dell’embrione. Ma, nonostante la varietà di tali posizioni di partenza, è parso possibile fissare taluni divieti accolti in tutti gli ordinamenti. Infine, il tema della difficile individuazione di confini chiari utili a distinguere tra l’utilizzazione delle terapie geniche e il diffondersi di una cultura eugenetica vera e propria, il cui rischio pare palesarsi non tanto a livello di scelte pubbliche, quanto piuttosto a livello di opzioni che le moderne biotecnologie in tema di procreazione medicalmente assistita mettono a disposizione dei privati cittadini.
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Hanrahan, Christopher J., Michael J. Palladino, Barry Ganetzky et Robert A. Reenan. « RNA Editing of the Drosophila para Na+ Channel Transcript : Evolutionary Conservation and Developmental Regulation ». Genetics 155, no 3 (1 juillet 2000) : 1149–60. http://dx.doi.org/10.1093/genetics/155.3.1149.
Texte intégralRésumé :
Abstract Post-transcriptional editing of pre-mRNAs through the action of dsRNA adenosine deaminases results in the modification of particular adenosine (A) residues to inosine (I), which can alter the coding potential of the modified transcripts. We describe here three sites in the para transcript, which encodes the major voltage-activated Na+ channel polypeptide in Drosophila, where RNA editing occurs. The occurrence of RNA editing at the three sites was found to be developmentally regulated. Editing at two of these sites was also conserved across species between the D. melanogaster and D. virilis. In each case, a highly conserved region was found in the intron downstream of the editing site and this region was shown to be complementary to the region of the exonic editing site. Thus, editing at these sites would appear to involve a mechanism whereby the edited exon forms a base-paired secondary structure with the distant conserved noncoding sequences located in adjacent downstream introns, similar to the mechanism shown for A-to-I RNA editing of mammalian glutamate receptor subunits (GluRs). For the third site, neither RNA editing nor the predicted RNA secondary structures were evolutionarily conserved. Transcripts from transgenic Drosophila expressing a minimal editing site construct for this site were shown to faithfully undergo RNA editing. These results demonstrate that Na+ channel diversity in Drosophila is increased by RNA editing via a mechanism analogous to that described for transcripts encoding mammalian GluRs.
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Guo, Shuyu, Ge Gao, Cuizhen Zhang et Gang Peng. « Multiplexed Genome Editing for Efficient Phenotypic Screening in Zebrafish ». Veterinary Sciences 9, no 2 (19 février 2022) : 92. http://dx.doi.org/10.3390/vetsci9020092.
Texte intégralRésumé :
Zebrafish are widely used to investigate candidate genes for human diseases. While the emergence of CRISPR-Cas9 technology has revolutionized gene editing, the use of individual guide RNAs limits the efficiency and application of this technology in functional genetics research. Multiplexed genome editing significantly enhances the efficiency and scope of gene editing. Herein, we describe an efficient multiplexed genome editing strategy to generate zebrafish mutants. Following behavioural tests and histological examination, we identified one new candidate gene (tmem183a) for hearing loss. This study provides a robust genetic platform to quickly obtain zebrafish mutants and to identify candidate genes by phenotypic readouts.
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Portela, Manuel. « 'Nenhum Problema Tem Solução' : Um Arquivo Digital do Livro do Desassossego ». Matlit Revista do Programa de Doutoramento em Materialidades da Literatura 1, no 1 (19 mai 2013) : 9–33. http://dx.doi.org/10.14195/2182-8830_1-1_1.
Texte intégralRésumé :
O projeto 'Nenhum Problema Tem Solução: Um Arquivo Digital do Livro do Desassossego' tem como objetivo a criação de um arquivo digital hipermédia dedicado à obra Livro do Desassossego [LdoD], de Bernardo Soares/Fernando Pessoa. O arquivo agregará fac-símiles digitais dos materiais documentais do LdoD, transcrições topográficas desses materiais, transcrições textuais das quatro edições críticas publicadas entre 1982 e 2010 (Coelho 1982 [2ª edição, 1997]; Cunha 1990-91 [2ª edição, 2008]; Zenith 1998 [10ª edição, 2012]; Pizarro 2010), e ainda ferramentas de pesquisa e análise textual. Esta agregação e codificação eletrónica dos fragmentos combina edição genética e edição social do LdoD, mostrando-o como rede potencial de intenções autorais e como construção conjetural dos seus sucessivos editores. O arquivo digital criará ainda um espaço de virtualização do LdoD que favoreça novas dinâmicas de leitura, edição, investigação e escrita. Este artigo apresenta o projeto nos seus aspetos teóricos, técnicos e metodológicos, enquadrando-os na investigação em curso neste domínio.
Abstract The research project 'No Problem Has Solution: A Digital Archive of the Book of Disquiet' aims to produce a digital hypermedia archive of the Book of Disquiet [LdoD], by Bernardo Soares/Fernando Pessoa. The archive will contain digital facsimiles of the documentary materials of LdoD, topographic transcriptions of those materials, textual transcriptions of the four critical editions published between 1982 and 2010 (Coelho 1982 [2nd edition, 1997]; Cunha 1990-91 [2nd edition, 2008]; Zenith 1998 [10th edition, 2012]; Pizarro 2010), and also tools for search and textual analysis. This aggregation and electronic encoding of textual fragments combines genetic and social editing of LdoD, showing it both as a network of potential authorial intentions and as a conjectural construction of its successive editors. This digital archive will also provide a space for virtualizing LdoD that encourages new dynamics of reading, editing, research, and writing. This article presents the project in its theoretical, technical, and methodological aspects, contextualizing them within ongoing research in the field.
DOI: http://dx.doi.org/10.14195/2182-8830_1-1_1
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Grauso, M., R. A. Reenan, E. Culetto et D. B. Sattelle. « Novel Putative Nicotinic Acetylcholine Receptor Subunit Genes,Dα5,Dα6andDα7, inDrosophila melanogasterIdentify a New and Highly Conserved Target of Adenosine Deaminase Acting on RNA-Mediated A-to-I Pre-mRNA Editing ». Genetics 160, no 4 (1 avril 2002) : 1519–33. http://dx.doi.org/10.1093/genetics/160.4.1519.
Texte intégralRésumé :
AbstractGenome analysis of the fruit fly Drosophila melanogaster reveals three new ligand-gated ion channel subunits with the characteristic YXCC motif found only in α-type nicotinic acetylcholine receptor subunits. The subunits are designated Dα5, Dα6, and Dα7. Cloning of the Dα5 embryonic cDNAs reveals an atypically large N terminus, part of which is without identifiable sequence motifs and is specified by two polymorphic alleles. Embryonic clones from Dα6 contain multiple variant transcripts arising from alternative splicing as well as A-to-I pre-mRNA editing. Alternative splicing in Dα6 involves exons encoding nAChR functional domains. The Dα6 transcript is a target of the Drosophila adenosine deaminase acting on RNA (dADAR). This is the first case for any organism where a nAChR gene is the target of mRNA editing. Seven adenosines could be modified in the extracellular ligand-binding region of Dα6, four of which are also edited in the Dα6 ortholog in the tobacco budworm Heliothis virescens. The conservation of an editing site between the insect orders Diptera and Lepidoptera makes nAChR editing the most evolutionarily conserved invertebrate RNA editing site so far described. These findings add to our understanding of nAChR subunit diversity, which is increased and regulated by mechanisms acting at the genomic and mRNA levels.
10
Ghanta, Krishna S., et Craig C. Mello. « Melting dsDNA Donor Molecules Greatly Improves Precision Genome Editing in Caenorhabditis elegans ». Genetics 216, no 3 (22 septembre 2020) : 643–50. http://dx.doi.org/10.1534/genetics.120.303564.
Texte intégralRésumé :
CRISPR genome editing has revolutionized genetics in many organisms. In the nematode Caenorhabditis elegans, one injection into each of the two gonad arms of an adult hermaphrodite exposes hundreds of meiotic germ cells to editing mixtures, permitting the recovery of multiple indels or small precision edits from each successfully injected animal. Unfortunately, particularly for long insertions, editing efficiencies can vary widely, necessitating multiple injections, and often requiring coselection strategies. Here, we show that melting double-stranded DNA (dsDNA) donor molecules prior to injection increases the frequency of precise homology-directed repair (HDR) by several fold for longer edits. We describe troubleshooting strategies that enable consistently high editing efficiencies resulting, for example, in up to 100 independent GFP knock-ins from a single injected animal. These efficiencies make C. elegans by far the easiest metazoan to genome edit, removing barriers to the use and adoption of this facile system as a model for understanding animal biology.
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Ferreira de Camargo, Gregório Miguel. « The role of molecular genetics in livestock production ». Animal Production Science 59, no 2 (2019) : 201. http://dx.doi.org/10.1071/an18013.
Texte intégralRésumé :
Genetic variations that lead to easy-to-identify phenotypic changes have always been of interest to livestock breeders since domestication. Molecular genetics has opened up possibilities for identifying these variations and understanding their biological and population effects. Moreover, molecular genetics is part of the most diverse approaches and applications in animal production nowadays, including paternity testing, selection based on genetic variants, diagnostic of genetic diseases, reproductive biotechniques, fraud identification, differentiation of hybrids, parasite identification, genetic evaluation, diversity studies, and genome editing, among others. Therefore, the objective of this review was to describe the different applications of molecular genetics in livestock production, contextualising them with examples and highlighting the importance of the study of these topics and their applications.
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Fares Filho, Edgard Murano. « As emendas silenciosas de O ano da morte de Ricardo Reis, de José Saramago : hipóteses e possibilidades ». Caligrama : Revista de Estudos Românicos 23, no 1 (24 mai 2018) : 53. http://dx.doi.org/10.17851/2238-3824.23.1.53-65.
Texte intégralRésumé :
Resumo: O rascunho do romance O ano da morte de Ricardo Reis (1984), do escritor português José Saramago (1922-2010), oferece uma boa oportunidade para o estudo do método criativo do autor à luz da Crítica Textual e Genética. Por meio do levantamento, organização e interpretação das marcas de edição deixadas no documento pelo escritor – acréscimos, supressões, substituições, inversões de palavras e enunciados etc. – é possível entrar em contato com o processo editorial que deu origem à obra. De modo que, sob a forma de uma edição crítico-genética, a comparação entre os originais e a primeira edição (editio princeps) ajuda a estabelecer os critérios que norteiam as intervenções do autor sobre o texto, mostrando que nem todas as alterações previstas no original foram acatadas pela versão impressa.Palavras-chave: crítica genética; filologia; crítica textual; literatura portuguesa; José Saramago.Abstract: The drafts of the novel The year of the death of Ricardo Reis (1984), by the Portuguese writer José Saramago (1922-2010), offer a good opportunity to study the author’s creative method in the light of Textual and Genetic Criticism. By gathering, organizing and interpreting the editing marks left on the paper by the writer – additions, suppressions, substitutions, inversions of words and statements, and others, – it is possible to approach the editorial process that gave rise to the work. From a critical and genetic perspective, the comparison between the original texts and the final version in the first edition (editio princeps) helps to define the criteria that guided the interventions of the author, showing that not all changes in the original document were accepted in the printed version.Keywords: genetic criticism; philology; textual criticism; Portuguese literature; José Saramago.
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Borges, Rosa. « Arquivos e memórias de escritores e dramaturgos baianos : edição, crítica filológica, genética e sociológica ». Revista Brasileira de Literatura Comparada 24, no 46 (avril 2022) : 194–214. http://dx.doi.org/10.1590/2596-304x20222446rb.
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RESUMO A filologia ocupa-se das práticas de edição e crítica de textos, buscando trazer, em novo circuito de leitura, as produções artístico-literárias e diferentes possibilidades de leitura e interpretação (crítica filológica). Neste artigo, pretende-se, a partir da massa documental que forma os acervos de escritores e dramaturgos baianos, relativa à produção dramatúrgica sob censura, no período da ditadura militar (1964-1985), dar destaque a algumas memórias lidas pelo pesquisador nos documentos que atestam a gênese do texto e/ou do espetáculo e as redes de sociabilidades do mesmo. Para tal fim, foram selecionados dois textos, levando-se em conta os gestos de produção e transmissão do texto teatral censurado, evidenciados no estudo do processo criativo (crítica genética) e das ações dos diferentes agentes sociais, escritores, atores, diretores, censores etc., envolvidos com a produção, circulação e recepção dos textos (crítica sociológica). No campo da filologia em diálogo com outros saberes, propõem-se edições e críticas em uma vertente editorial pragmática.
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Park, Ki-Eun, et Bhanu Prakash V. L. Telugu. « Role of stem cells in large animal genetic engineering in the TALENs–CRISPR era ». Reproduction, Fertility and Development 26, no 1 (2014) : 65. http://dx.doi.org/10.1071/rd13258.
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The establishment of embryonic stem cells (ESCs) and gene targeting technologies in mice has revolutionised the field of genetics. The relative ease with which genes can be knocked out, and exogenous sequences introduced, has allowed the mouse to become the prime model for deciphering the genetic code. Not surprisingly, the lack of authentic ESCs has hampered the livestock genetics field and has forced animal scientists into adapting alternative technologies for genetic engineering. The recent discovery of the creation of induced pluripotent stem cells (iPSCs) by upregulation of a handful of reprogramming genes has offered renewed enthusiasm to animal geneticists. However, much like ESCs, establishing authentic iPSCs from the domestic animals is still beset with problems, including (but not limited to) the persistent expression of reprogramming genes and the lack of proven potential for differentiation into target cell types both in vitro and in vivo. Site-specific nucleases comprised of zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs) and clustered regulated interspaced short palindromic repeats (CRISPRs) emerged as powerful genetic tools for precisely editing the genome, usurping the need for ESC-based genetic modifications even in the mouse. In this article, in the aftermath of these powerful genome editing technologies, the role of pluripotent stem cells in livestock genetics is discussed.
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Cheng, Acga, Jennifer Ann Harikrishna, Charles S. Redwood, Lei Cheng Lit, Swapan K. Nath et Kek Heng Chua. « Genetics Matters : Voyaging from the Past into the Future of Humanity and Sustainability ». International Journal of Molecular Sciences 23, no 7 (2 avril 2022) : 3976. http://dx.doi.org/10.3390/ijms23073976.
Texte intégralRésumé :
The understanding of how genetic information may be inherited through generations was established by Gregor Mendel in the 1860s when he developed the fundamental principles of inheritance. The science of genetics, however, began to flourish only during the mid-1940s when DNA was identified as the carrier of genetic information. The world has since then witnessed rapid development of genetic technologies, with the latest being genome-editing tools, which have revolutionized fields from medicine to agriculture. This review walks through the historical timeline of genetics research and deliberates how this discipline might furnish a sustainable future for humanity.
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Van Hulle, Dirk. « The Stuff of Fiction : Digital Editing, Multiple Drafts and the Extended Mind ». Textual Cultures 8, no 1 (5 mars 2014) : 23–37. http://dx.doi.org/10.14434/tcv8i1.5048.
Texte intégralRésumé :
Since genetic criticism regards modern manuscripts as a research object in and of itself, it objects to an editorial practice that treats manuscript studies as a mere tool towards the making of a scholarly edition. Still, an exchange of ideas between genetic criticism and scholarly editing can be mutually beneficial and may work in two directions. This essay therefore starts from digital scholarly editing, more specifically from recent developments in computer-assisted collation of multiple draft versions, to see how it can contribute to the study of modern manuscripts. The argument is that the combination of textual scholarship and genetic criticism can be an effective instrument for literary critics, enabling them to study the material aspect of the writing process as an inherent part of what cognitive philosophy calls “the extended mind”; and that this extensiveness does not only apply to the writer’s mind, but that an awareness of manuscripts as a crucial part of the “stuff of fiction” can also contribute to a better understanding of literary evocations of the fictional mind.
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Canver, Matthew C., et Stuart H. Orkin. « Customizing the genome as therapy for the β-hemoglobinopathies ». Blood 127, no 21 (26 mai 2016) : 2536–45. http://dx.doi.org/10.1182/blood-2016-01-678128.
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Abstract Despite nearly complete understanding of the genetics of the β-hemoglobinopathies for several decades, definitive treatment options have lagged behind. Recent developments in technologies for facile manipulation of the genome (zinc finger nucleases, transcription activator-like effector nucleases, or clustered regularly interspaced short palindromic repeats–based nucleases) raise prospects for their clinical application. The use of genome-editing technologies in autologous CD34+ hematopoietic stem and progenitor cells represents a promising therapeutic avenue for the β-globin disorders. Genetic correction strategies relying on the homology-directed repair pathway may repair genetic defects, whereas genetic disruption strategies relying on the nonhomologous end joining pathway may induce compensatory fetal hemoglobin expression. Harnessing the power of genome editing may usher in a second-generation form of gene therapy for the β-globin disorders.
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Mandrioli, Mauro. « Genome Editing among Bioethics and Regulatory Practices ». Biomolecules 12, no 1 (22 décembre 2021) : 13. http://dx.doi.org/10.3390/biom12010013.
Texte intégralRésumé :
In the last decade, genome editing technologies became very effective and several clinical trials have been started in order to use them for treating some genetic diseases. Interestingly, despite more than 50 years of discussion about the frontiers of genetics in human health and evolution, the debate about the bioethics and the regulatory practices of genome editing is still far from satisfactory answers. This delay results from an excessive emphasis on the effectiveness of the genome editing technologies that is relevant for the regulatory practices, but not at a bioethical level. Indeed, other factors (such as accessibility and acceptability) could make these techniques not accepted at the bioethical level, even in the presence of their 100% effectiveness.
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Tkachuk, E. A., et I. Zh Seminsky. « THE ROLE OF GENETICS IN MODERN MEDICINE ». Baikal Medical Journal 1, no 1 (2022) : 81–88. http://dx.doi.org/10.57256/2949-0715-2022-1-81-88.
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The lecture discusses the role of modern genetics and its significance for medicine, determines the goals of genetics and its structure. It is shown that modern medical genetics is divided into general, clinical and laboratory genetics. Other fields of genetics are genomics, molecular and biochemical genetics, cytogenetics, developmental genetics, oncogenetics and immunogenetics, pharmacogenetics, population genetics, ecological genetics, nutrigenetics, toxico-genetics. It is noted that about 20–40 % of clinic patients have hereditary pathology. The main possibilities of modern genetics, such as human genome sequencing, molecular genetic diagnosis of hereditary pathology, personalized medicine, genetic certification, identification of genetic markers for oncological diseases, determination of individual drug sensitivity using pharmacogenetics methods, gene therapy of previously incurable diseases, medical bioengineer-ing and genome editing. The issues of biological aging of the body and the possibility of prolonging active longevity by the methods of modern genetics are discussed. Conclusions are drawn about the need to introduce knowledge, skills and abilities in the field of clinical genetics propaedeutics, genetic testing and interpretation of its results, treat-ment and prevention using modern genetics methods into the system of higher medical education.
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Dai, Ying, Guojian Hu, Annabelle Dupas, Luciano Medina, Nils Blandels, Hélène San Clemente, Nathalie Ladouce et al. « Implementing the CRISPR/Cas9 Technology in Eucalyptus Hairy Roots Using Wood-Related Genes ». International Journal of Molecular Sciences 21, no 10 (12 mai 2020) : 3408. http://dx.doi.org/10.3390/ijms21103408.
Texte intégralRésumé :
Eucalypts are the most planted hardwoods worldwide. The availability of the Eucalyptus grandis genome highlighted many genes awaiting functional characterization, lagging behind because of the lack of efficient genetic transformation protocols. In order to efficiently generate knock-out mutants to study the function of eucalypts genes, we implemented the powerful CRISPR/Cas9 gene editing technology with the hairy roots transformation system. As proofs-of-concept, we targeted two wood-related genes: Cinnamoyl-CoA Reductase1 (CCR1), a key lignin biosynthetic gene and IAA9A an auxin dependent transcription factor of Aux/IAA family. Almost all transgenic hairy roots were edited but the allele-editing rates and spectra varied greatly depending on the gene targeted. Most edition events generated truncated proteins, the prevalent edition types were small deletions but large deletions were also quite frequent. By using a combination of FT-IR spectroscopy and multivariate analysis (partial least square analysis (PLS-DA)), we showed that the CCR1-edited lines, which were clearly separated from the controls. The most discriminant wave-numbers were attributed to lignin. Histochemical analyses further confirmed the decreased lignification and the presence of collapsed vessels in CCR1-edited lines, which are characteristics of CCR1 deficiency. Although the efficiency of editing could be improved, the method described here is already a powerful tool to functionally characterize eucalypts genes for both basic research and industry purposes.
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da Costa, Bruna Lopes, Masha Kolesnikova, Sarah R. Levi, Thiago Cabral, Stephen H. Tsang, Irene H. Maumenee et Peter M. J. Quinn. « Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations ». Biomedicines 11, no 2 (27 janvier 2023) : 385. http://dx.doi.org/10.3390/biomedicines11020385.
Texte intégralRésumé :
Mutations in the Crumbs homolog 1 (CRB1) gene lead to severe inherited retinal dystrophies (IRDs), accounting for nearly 80,000 cases worldwide. To date, there is no therapeutic option for patients suffering from CRB1-IRDs. Therefore, it is of great interest to evaluate gene editing strategies capable of correcting CRB1 mutations. A retrospective chart review was conducted on ten patients demonstrating one or two of the top ten most prevalent CRB1 mutations and receiving care at Columbia University Irving Medical Center, New York, NY. Patient phenotypes were consistent with previously published data for individual CRB1 mutations. To identify the optimal gene editing strategy for these ten mutations, base and prime editing designs were evaluated. For base editing, we adopted the use of a near-PAMless Cas9 (SpRY Cas9), whereas for prime editing, we evaluated the canonical NGG and NGA prime editors. We demonstrate that for the correction of c.2843G>A, p.(Cys948Tyr), the most prevalent CRB1 mutation, base editing has the potential to generate harmful bystanders. Prime editing, however, avoids these bystanders, highlighting its future potential to halt CRB1-mediated disease progression. Additional studies investigating prime editing for CRB1-IRDs are needed, as well as a thorough analysis of prime editing’s application, efficiency, and safety in the retina.
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Thomson, Michael J., Sudip Biswas, Nikolaos Tsakirpaloglou et Endang M. Septiningsih. « Functional Allele Validation by Gene Editing to Leverage the Wealth of Genetic Resources for Crop Improvement ». International Journal of Molecular Sciences 23, no 12 (12 juin 2022) : 6565. http://dx.doi.org/10.3390/ijms23126565.
Texte intégralRésumé :
Advances in molecular technologies over the past few decades, such as high-throughput DNA marker genotyping, have provided more powerful plant breeding approaches, including marker-assisted selection and genomic selection. At the same time, massive investments in plant genetics and genomics, led by whole genome sequencing, have led to greater knowledge of genes and genetic pathways across plant genomes. However, there remains a gap between approaches focused on forward genetics, which start with a phenotype to map a mutant locus or QTL with the goal of cloning the causal gene, and approaches using reverse genetics, which start with large-scale sequence data and work back to the gene function. The recent establishment of efficient CRISPR-Cas-based gene editing promises to bridge this gap and provide a rapid method to functionally validate genes and alleles identified through studies of natural variation. CRISPR-Cas techniques can be used to knock out single or multiple genes, precisely modify genes through base and prime editing, and replace alleles. Moreover, technologies such as protoplast isolation, in planta transformation, and the use of developmental regulatory genes promise to enable high-throughput gene editing to accelerate crop improvement.
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Zhao, Ye, Yanting Tian, Yuhan Sun et Yun Li. « The Development of Forest Genetic Breeding and the Application of Genome Selection and CRISPR/Cas9 in Forest Breeding ». Forests 13, no 12 (10 décembre 2022) : 2116. http://dx.doi.org/10.3390/f13122116.
Texte intégralRésumé :
With the birth of classical genetics, forest genetic breeding has laid a foundation in the formation of the basic theories of population genetics, quantitative genetics, cytogenetics, and molecular genetics. Driven by the rapid growth of social demand for wood and other forest products, modern genetics, biotechnology, biostatistics, crop and animal husbandry breeding theories, and technical achievements have been continuously introduced for innovation, thus forming a close combination of genetic basic research and breeding practice. Forest tree breeding research in the world has a history of more than 200 years. By the middle of the 20th century, the forest tree genetic breeding system was gradually formed. After entering the 21st century, the in-depth development stage of molecular design breeding was opened. With the continuous improvement of traditional genetic breeding methods, emerging modern bioengineering technology has also continuously promoted the development of forest genetic breeding. This study mainly summarizes the research history of forest tree genetics and breeding, as well as discusses the application of modern bioengineering technology represented by genome selection and gene editing in forest tree breeding, so as to provide better reference for forest tree breeding research.
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Savvina, Olga V. « Genetic Modification of Human Embryos : Limits ». Ethical Thought 22, no 1 (2022) : 124–34. http://dx.doi.org/10.21146/2074-4870-2022-22-1-124-134.
Texte intégralRésumé :
The article analyses the moral justification of human germline editing and the tendency to its legalization. The study is based on documents of international organizations, such as the World Health Organization (WHO), national bioethics committees and others that regulate the usage of technologies for human germline editing or issue related recommendations. The paper analyzes the impact of the introduction of new technologies on human germline editing recommendations. It is concluded that that the development of biotechnologies contributes to liberal attitude towards human germline editing, slowly canceling the technologies’ usage ban firstly for therapeutic purposes, and then for the human enhancement purposes. The article suggests that the development of biotechnologies makes it difficult to apply the old bioethics principles; and exacerbates the discussion about the boundaries of the new biotechnologies’ application. Despite the shock and condemnation of the first experiments that violate ban (as in the cases with CRISPR/Cas9 in 2015 and 2018 in China), the scientific community, international organizations and governments return to the issue concerning gene editing technologies limitation. The inability to be guided by the old bioethics principles forces to look for new ethical grounds for gene editing. Now old principles and values are applied with utilitarian approach in ethics, that cancel ban and raises the issue of human germline editing limitation. The article also describes the limits of permissible interventions in the issue of human germline editing at the end of 2021.
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Nasrallah, Ali, Eric Sulpice, Farah Kobaisi, Xavier Gidrol et Walid Rachidi. « CRISPR-Cas9 Technology for the Creation of Biological Avatars Capable of Modeling and Treating Pathologies : From Discovery to the Latest Improvements ». Cells 11, no 22 (15 novembre 2022) : 3615. http://dx.doi.org/10.3390/cells11223615.
Texte intégralRésumé :
This is a spectacular moment for genetics to evolve in genome editing, which encompasses the precise alteration of the cellular DNA sequences within various species. One of the most fascinating genome-editing technologies currently available is Clustered Regularly Interspaced Palindromic Repeats (CRISPR) and its associated protein 9 (CRISPR-Cas9), which have integrated deeply into the research field within a short period due to its effectiveness. It became a standard tool utilized in a broad spectrum of biological and therapeutic applications. Furthermore, reliable disease models are required to improve the quality of healthcare. CRISPR-Cas9 has the potential to diversify our knowledge in genetics by generating cellular models, which can mimic various human diseases to better understand the disease consequences and develop new treatments. Precision in genome editing offered by CRISPR-Cas9 is now paving the way for gene therapy to expand in clinical trials to treat several genetic diseases in a wide range of species. This review article will discuss genome-editing tools: CRISPR-Cas9, Zinc Finger Nucleases (ZFNs), and Transcription Activator-Like Effector Nucleases (TALENs). It will also encompass the importance of CRISPR-Cas9 technology in generating cellular disease models for novel therapeutics, its applications in gene therapy, and challenges with novel strategies to enhance its specificity.
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Hattori, Nobuaki, Kazuaki Kitagawa, Shigeo Takumi et Chiharu Nakamura. « Mitochondrial DNA Heteroplasmy in Wheat, Aegilops and Their Nucleus-Cytoplasm Hybrids ». Genetics 160, no 4 (1 avril 2002) : 1619–30. http://dx.doi.org/10.1093/genetics/160.4.1619.
Texte intégralRésumé :
Abstract A mitochondrial (mt) transcriptional unit, nad3-orf156, was studied in the nucleus-cytoplasm hybrids of wheat with D/D2 plasmons from Aegilops species and their parental lines. A comparative RFLP analysis and sequencing of the random PCR clones revealed the presence of seven sequence types and their polymorphic sites were mapped. All the hybrids possessed the paternal copies besides the maternal copies. More paternal copies were present in the D2 plasmon hybrids, whereas more maternal copies were present in the D plasmon hybrids. Two major copies were present with different stoichiometries in the maternal Aegilops parents. However, only a major D plasmon copy was detected in the hybrids, irrespective of their plasmon types. The hexaploid wheat parent (AABBDD genome) possessed the major D plasmon copy in ~5% stoichiometry, while no D plasmon-homologous copies were detected in the tetraploid wheat parent (AABB genome). The results suggest that the observed mtDNA heteroplasmy is due to paternal contribution of mtDNA. The different copy stoichiometry suggests differential amplification of the heteroplasmic copies among the hybrids and the parental lines. All editing sites and their editing frequencies were conserved among the lines, and only the maternal pattern of editing occurred in the hybrids.
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Štambuk, Snježana, et Miroslav Radman. « Mechanism and Control of Interspecies Recombination in Escherichia coli. I. Mismatch Repair, Methylation, Recombination and Replication Functions ». Genetics 150, no 2 (1 octobre 1998) : 533–42. http://dx.doi.org/10.1093/genetics/150.2.533.
Texte intégralRésumé :
Abstract A genetic analysis of interspecies recombination in Escherichia coli between the linear Hfr DNA from Salmonella typhimurium and the circular recipient chromosome reveals some fundamental aspects of recombination between related DNA sequences. The MutS and MutL mismatch binding proteins edit (prevent) homeologous recombination between these 16% diverged genomes by at least two distinct mechanisms. One is MutH independent and presumably acts by aborting the initiated recombination through the UvrD helicase activity. The RecBCD nuclease might contribute to this editing step, presumably by preventing reiterated initiations of recombination at a given locus. The other editing mechanism is MutH dependent, requires unmethylated GATC sequences, and probably corresponds to an incomplete long-patch mismatch repair process that does not depend on UvrD helicase activity. Insignificant effects of the Dam methylation of parental DNAs suggest that unmethylated GATC sequences involved in the MutH-dependent editing are newly synthesized in the course of recombination. This hypothetical, recombination-associated DNA synthesis involves PriA and RecF functions, which, therefore, determine the extent of MutH effect on interspecies recombination. Sequence divergence of recombining DNAs appears to limit the frequency, length, and stability of early heteroduplex intermediates, which can be stabilized, and the recombinants mature via the initiation of DNA replication.
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Ponce de León, F. Abel, et Gustavo A. Gutierrez. « Genomics and animal production ». Revista Peruana de Biología 27, no 1 (4 mars 2020) : 015–20. http://dx.doi.org/10.15381/rpb.v27i1.17574.
Texte intégralRésumé :
Developing countries have the challenge of achieving food security in a world context that is affected by climate change and global population growth. Molecular Genetics and genomics are proposed as technologies that will help to achieve sustainable food security. Technologies that have been developed in the last decade such as the development of genetic markers, genetic maps, genomic selection, next-generation sequencing, and DNA editing systems are discussed. Examples of some discoveries and achievements are provided.
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Letov, Oleg. « ETHICAL ASPECTS OF THE DEVELOPMENT OF GENETICS : THE PROBLEM OF GENETIC EDITING ». Filosofiya Referativnyi Zhurnal, no 4 (2022) : 89–93. http://dx.doi.org/10.31249/rphil/2022.04.12.
Texte intégralRésumé :
The review is devoted to the ethical problems of the development of genetic technologies. It is indicated that the introduction of modifications into the genome of agricultural animals to increase production volumes and obtain human food products with desired properties is a promising direction in biotechnology. The main disadvantage of classical transgenesis is the unpredictability of the site of integration of the transgene into the genome and the number of built-in copies. A new term has emerged, genetic editing, which, along with the goal of introducing a new quality (or removing an unwanted existing one), implies «do no harm». Obtaining a transgenic organism includes three stages: the creation of a gene construct, its introduction into the genome of the organism, analysis for transgenicity, and selection of modified organisms.
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Miller, Phillip S. « 249 Awardee Talk : Swine Nutrient Requirements : Past, Present, and Future ». Journal of Animal Science 100, Supplement_3 (21 septembre 2022) : 106–7. http://dx.doi.org/10.1093/jas/skac247.208.
Texte intégralRésumé :
Abstract Since 1944, there have been 11 editions of the Nutrient Requirements of Swine coordinated by the National Research Council (NRC; currently the National Academies of Sciences, Medicine and Engineering [NASEM]) and published by the National Academy Press. Between 1944 and 1988 there were 9 editions and 3 editions between 1988 and 2022. The description of nutrient requirements for swine has been refined and augmented to reflect modern pig genetics and expanding methodology to measure pig performance. The scope of the publication has expanded (9th edition, 93 pages; 11th edition, 400 pages). The 11th edition highlighted gaps in literature that were identified by the study committee. For several of these areas, research is still needed. The last two editions have included computer models developed to generate energy and nutrient requirements. Also, feed composition tables were included in the last two editions. Development and maintenance of these models and ingredient databases require significant resources from committees appointed by NASEM. Shortly after the publication of the 11th edition, a National Research Support Program grant has funded the efforts of the National Animal Nutrition Program (https://animalnutrition.org/). This program has generated the ingredient databases for the Beef, Dairy, and Poultry study reports. It is anticipated that this program will play a key role in developing ingredient databases and requirement models for future NASEM swine (and other species) nutrient requirement publication(s). This approach should help maintain a repository for swine nutrient requirement information and ingredient composition.
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Xu, Longlan, Yuhua He, Lingli Tang, Yongyang Xu et Guangwei Zhao. « Genetics, Genomics, and Breeding in Melon ». Agronomy 12, no 11 (18 novembre 2022) : 2891. http://dx.doi.org/10.3390/agronomy12112891.
Texte intégralRésumé :
Melon is an important horticultural crop worldwide. The high diversity of melon makes it a model plant for various different properties. Some quantitative trait loci or candidates have been discovered, but few were verified as limiting genetic transformation and genome editing systems. Identifying new genetic resources with resistance and special fruit quality traits is imperative to develop effective and useful breeding technologies in melon. This review describes the advances in genetics, genomics, and the breeding of melon and puts forward some recommendations in these areas.
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Velasquez Vasconez, Pedro Alexander, Wendy Teresa Abregu Olarte et Priscila Fortes. « University community attitudes to the use of genetic editing ». Quaestum 2 (9 juillet 2021) : 1–9. http://dx.doi.org/10.22167/2675-441x-20210546.
Texte intégralRésumé :
Genetic editing has many applications in all areas of society but it can also have unpredictable consequences. The objective of this research was to study the attitudes of the university community to the use of genetic editing in agricultural, environment, health and improvement of the human species. Students completed an online questionnaire written in three languages such as English, Spanish and Portuguese, which was made available in nine countries. Knowledge of words associated with the genetic editing technique increases with the level of education of the students. Doctoral students showed greater support for genetic editing in humans. There is a high degree of acceptance for genome modification techniques for purposes such as consumption, industry or health (~70%). While it had a great rejection (78%) to the genetic intervention for the improvement of physical or cognitive characteristics. Most student’s express that the government should regulate and invest in research on genetic editing. Most students are optimistic or slightly optimistic about advances in this technology, especially for the benefit of health and the agricultural sector. This research provides an overview of students’ opinion of the genetic editing and serves as a basis for future studies.
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Komisarenko, S. V., et S. I. Romaniuk. « Prospects of genome editing using CRISPR/CAS or how to master genetic scissors. Nobel Prize in Chemistry 2020 ». Ukrainian Biochemical Journal 93, no 1 (22 février 2021) : 113–28. http://dx.doi.org/10.15407/ubj93.01.113.
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Bhakta, Sonali, et Toshifumi Tsukahara. « C-to-U RNA Editing : A Site Directed RNA Editing Tool for Restoration of Genetic Code ». Genes 13, no 9 (12 septembre 2022) : 1636. http://dx.doi.org/10.3390/genes13091636.
Texte intégralRésumé :
The restoration of genetic code by editing mutated genes is a potential method for the treatment of genetic diseases/disorders. Genetic disorders are caused by the point mutations of thymine (T) to cytidine (C) or guanosine (G) to adenine (A), for which gene editing (editing of mutated genes) is a promising therapeutic technique. In C-to-Uridine (U) RNA editing, it converts the base C-to-U in RNA molecules and leads to nonsynonymous changes when occurring in coding regions; however, for G-to-A mutations, A-to-I editing occurs. Editing of C-to-U is not as physiologically common as that of A-to-I editing. Although hundreds to thousands of coding sites have been found to be C-to-U edited or editable in humans, the biological significance of this phenomenon remains elusive. In this review, we have tried to provide detailed information on physiological and artificial approaches for C-to-U RNA editing.
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Salvesen, Hamish A., Timothy J. Byrne, C. Bruce A. Whitelaw et Fiona S. Hely. « Simulating the Commercial Implementation of Gene-Editing for Influenza A Virus Resistance in Pigs : An Economic and Genetic Analysis ». Genes 13, no 8 (12 août 2022) : 1436. http://dx.doi.org/10.3390/genes13081436.
Texte intégralRésumé :
The development of swine Influenza A Virus resistance along with genetic technologies could complement current control measures to help to improve animal welfare standards and the economic efficiency of pig production. We have created a simulation model to assess the genetic and economic implications of various gene-editing methods that could be implemented in a commercial, multi-tiered swine breeding system. Our results demonstrate the length of the gene-editing program was negatively associated with genetic progress in commercial pigs and that the time required to reach fixation of resistance alleles was reduced if the efficiency of gene-editing is greater. The simulations included the resistance conferred in a digenic model, the inclusion of genetic mosaicism in progeny, and the effects of selection accuracy. In all scenarios, the level of mosaicism had a greater effect on the time required to reach resistance allele fixation and the genetic progress of the herd than gene-editing efficiency and zygote survival. The economic analysis highlights that selection accuracy will not affect the duration of gene-editing and the investment required compared to the effects of gene-editing-associated mosaicism and the swine Influenza A Virus control strategy on farms. These modelling results provide novel insights into the economic and genetic implications of targeting two genes in a commercial pig gene-editing program and the effects of selection accuracy and mosaicism.
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Narain, Prem. « Scientific and Technological Interventions for Attaining Precision in Plant Genetics and Breeding ». Journal of Agronomy Research 1, no 1 (30 mars 2018) : 5–21. http://dx.doi.org/10.14302/issn.2639-3166.jar-18-1987.
Texte intégralRésumé :
The scientific and technological interventions for attaining precision in plant genetics and breeding since Mendel’s discovery of genetic laws have been critically reviewed in terms of cloning technology and reverse genetics, chip technology, genetically modified organisms and CRISPR-based gene editing technology. Their roles in further refining the plant genetics and breeding practices particularly their exploitation in creating variations and their use for development of superior genotypes in model crops like wheat and rice have been discussed. It is stressed how such interventions could prove to be promising for meeting future crop improvement program in terms of climate change, bio-fortification, imaging technology, statistics, big data revolution and deep learning.
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Rubio, Carmen, et Carlos Simón. « Embryo Genetics ». Genes 12, no 1 (19 janvier 2021) : 118. http://dx.doi.org/10.3390/genes12010118.
Texte intégralRésumé :
Advances in embryo and reproductive genetics have influenced clinical approaches to overcome infertility. Since the 1990s, many attempts have been made to decipher the genetic causes of infertility and to understand the role of chromosome aneuploidies in embryo potential. At the embryo stage, preimplantation genetic testing for chromosomal abnormalities and genetic disorders has offered many couples the opportunity to have healthy offspring. Recently, the application of new technologies has resulted in more comprehensive and accurate diagnoses of chromosomal abnormalities and genetic conditions to improve clinical outcome. In this Special Issue, we include a collection of reviews and original articles covering many aspects of embryo diagnosis, genome editing, and maternal–embryo cross-communication during the implantation process.
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Charo, R. Alta. « Germline Engineering and Human Rights ». AJIL Unbound 112 (2018) : 344–49. http://dx.doi.org/10.1017/aju.2018.88.
Texte intégralRésumé :
With the ever-increasing range of medical technologies at our disposal to mediate the processes of life, from conception to death, comes an ever-increasing number of decision points about human control of fate. And as we debate altering our fate—whether dictated by a deity or by chance—the discussion frequently devolves into a question of whether we may alter not only our own fate, but also that of our children. The advent of genome editing, whether by older methods or the newer, often more easily used methods employing CRISPR, has only made debating the controversial possibility of heritable “germline” editing more urgent. The advent of genome editing, whether by older methods or the newer, often more easily used methods employing CRISPR, has only made debating the controversial possibility of heritable “germline” editing more urgent. On the eve of the Second International Summit on Human Genome Editing, held at the end of November 2018 in Hong Kong, a startling and disturbing story began circulating - a Chinese researcher announced the first births of children whose genomes had been edited at the embryonic stage. The work (assuming the claim can be verified) suffered from myriad problems, beginning with the lack of a compelling medical need, and including inadequate preclinical research, lack of peer review, flawed subject recruitment and consent procedures, and an apparent disregard for both formal and informal rules governing genetic manipulation of embryos. The summit's organizing committee issued a statement, distinguishing this experiment from what would be a responsible translational pathway forward. But not surprisingly, others around the world immediately called for a global, enforceable prohibition on such genetic engineering. On the occasion of the Universal Declaration on Human Rights (UDHR)’s seventieth anniversary, this essay argues that the current human rights law on germline editing misunderstands both the mechanisms of genetics and the moral basis for human rights, suggesting a more nuanced approach as we move forward and keep pace with new gene-editing technologies.
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Chiu, Hui, Hillel T. Schwartz, Igor Antoshechkin et Paul W. Sternberg. « Transgene-Free Genome Editing inCaenorhabditis elegansUsing CRISPR-Cas ». Genetics 195, no 3 (26 août 2013) : 1167–71. http://dx.doi.org/10.1534/genetics.113.155879.
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Farboud, Behnom, Aaron F. Severson et Barbara J. Meyer. « Strategies for Efficient Genome Editing Using CRISPR-Cas9 ». Genetics 211, no 2 (30 novembre 2018) : 431–57. http://dx.doi.org/10.1534/genetics.118.301775.
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Bentolila, Stéphane, Leah E. Elliott et Maureen R. Hanson. « Genetic Architecture of Mitochondrial Editing in Arabidopsis thaliana ». Genetics 178, no 3 (11 juin 2007) : 1693–708. http://dx.doi.org/10.1534/genetics.107.073585.
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Huang, Chien-feng, Jasleen Kaur, Ana Maguitman et Luis M. Rocha. « Agent-Based Model of Genotype Editing ». Evolutionary Computation 15, no 3 (septembre 2007) : 253–89. http://dx.doi.org/10.1162/evco.2007.15.3.253.
Texte intégralRésumé :
Evolutionary algorithms rarely deal with ontogenetic, non-inherited alteration of genetic information because they are based on a direct genotype-phenotype mapping. In contrast, several processes have been discovered in nature which alter genetic information encoded in DNA before it is translated into amino-acid chains. Ontogenetically altered genetic information is not inherited but extensively used in regulation and development of phenotypes, giving organisms the ability to, in a sense, re-program their genotypes according to environmental cues. An example of post-transcriptional alteration of gene-encoding sequences is the process of RNA Editing. Here we introduce a novel Agent-based model of genotype editing and a computational study of its evolutionary performance in static and dynamic environments. This model builds on our previous Genetic Algorithm with Editing, but presents a fundamentally novel architecture in which coding and non-coding genetic components are allowed to co-evolve. Our goals are: (1) to study the role of RNA Editing regulation in the evolutionary process, (2) to understand how genotype editing leads to a different, and novel evolutionary search algorithm, and (3) the conditions under which genotype editing improves the optimization performance of traditional evolutionary algorithms. We show that genotype editing allows evolving agents to perform better in several classes of fitness functions, both in static and dynamic environments. We also present evidence that the indirect genotype/phenotype mapping resulting from genotype editing leads to a better exploration/exploitation compromise of the search process. Therefore, we show that our biologically-inspired model of genotype editing can be used to both facilitate understanding of the evolutionary role of RNA regulation based on genotype editing in biology, and advance the current state of research in Evolutionary Computation.
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Sharma, Anuj, Jeffrey B. Jones et Frank F. White. « Recent advances in developing disease resistance in plants ». F1000Research 8 (19 novembre 2019) : 1934. http://dx.doi.org/10.12688/f1000research.20179.1.
Texte intégralRésumé :
Approaches to manipulating disease resistance in plants is expanding exponentially due to advances in our understanding of plant defense mechanisms and new tools for manipulating the plant genome. The application of effective strategies is only limited now by adoption of rapid classical genetic techniques and the acceptance of genetically engineered traits for some problems. The use of genome editing and cis-genetics, where possible, may facilitate applications that otherwise require considerable time or genetic engineering, depending on settling legal definitions of the products. Nonetheless, the variety of approaches to developing disease resistance has never been greater.
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Davies, Kay E. « The Long Journey from Diagnosis to Therapy ». Annual Review of Genomics and Human Genetics 21, no 1 (31 août 2020) : 1–13. http://dx.doi.org/10.1146/annurev-genom-112019-083518.
Texte intégralRésumé :
I was honored to be asked by the Editorial Committee of the Annual Review of Genomics and Genetics to write an autobiographical account of my life in science and in genetics in particular. The field has moved from mapping Mendelian disorders 40 years ago to the delivery of effective therapies for some monogenic disorders today. My 40-year journey from diagnosis to therapy for Duchenne muscular dystrophy has depended on collaborations among basic scientists, clinicians, medical charities, genetic counselors, biotech companies, and affected families. The future of human genetics looks even more exciting, with techniques such as single-cell sequencing and somatic cell CRISPR editing opening up opportunities for precision medicine and accelerating progress.
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Fox, Keolu, Kartik Lakshmi Rallapalli et Alexis C. Komor. « Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools ». Genes 11, no 1 (12 janvier 2020) : 88. http://dx.doi.org/10.3390/genes11010088.
Texte intégralRésumé :
Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within the population genetics community frequently overlook the importance of these criteria when associating observed phenotypic variation with evolutionary explanations. A functional investigation of population-specific variation using cutting-edge genome editing tools has the potential to empower the population genetics community by holding “just-so” evolutionary explanations accountable. Here, we detail currently available precision genome editing tools and methods, with a particular emphasis on base editing, that can be applied to functionally investigate population-specific point mutations. We use the recent identification of thrifty mutations in the CREBRF gene as an example of the current dire need for an alliance between the fields of population genetics and genome editing.
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Hoban, Megan D., et Daniel E. Bauer. « A genome editing primer for the hematologist ». Blood 127, no 21 (26 mai 2016) : 2525–35. http://dx.doi.org/10.1182/blood-2016-01-678151.
Texte intégralRésumé :
Abstract Gene editing enables the site-specific modification of the genome. These technologies have rapidly advanced such that they have entered common use in experimental hematology to investigate genetic function. In addition, genome editing is becoming increasingly plausible as a treatment modality to rectify genetic blood disorders and improve cellular therapies. Genome modification typically ensues from site-specific double-strand breaks and may result in a myriad of outcomes. Even single-strand nicks and targeted biochemical modifications that do not permanently alter the DNA sequence (epigenome editing) may be powerful instruments. In this review, we examine the various technologies, describe their advantages and shortcomings for engendering useful genetic alterations, and consider future prospects for genome editing to impact hematology.
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Gu, Tongjun, Daniel M. Gatti, Anuj Srivastava, Elizabeth M. Snyder, Narayanan Raghupathy, Petr Simecek, Karen L. Svenson et al. « Genetic Architectures of Quantitative Variation in RNA Editing Pathways ». Genetics 202, no 2 (27 novembre 2015) : 787–98. http://dx.doi.org/10.1534/genetics.115.179481.
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Arribere, Joshua A., Hidehito Kuroyanagi et Heather A. Hundley. « mRNA Editing, Processing and Quality Control in Caenorhabditis elegans ». Genetics 215, no 3 (juillet 2020) : 531–68. http://dx.doi.org/10.1534/genetics.119.301807.
Texte intégralRésumé :
While DNA serves as the blueprint of life, the distinct functions of each cell are determined by the dynamic expression of genes from the static genome. The amount and specific sequences of RNAs expressed in a given cell involves a number of regulated processes including RNA synthesis (transcription), processing, splicing, modification, polyadenylation, stability, translation, and degradation. As errors during mRNA production can create gene products that are deleterious to the organism, quality control mechanisms exist to survey and remove errors in mRNA expression and processing. Here, we will provide an overview of mRNA processing and quality control mechanisms that occur in Caenorhabditis elegans, with a focus on those that occur on protein-coding genes after transcription initiation. In addition, we will describe the genetic and technical approaches that have allowed studies in C. elegans to reveal important mechanistic insight into these processes.
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Singh, Prateush, Roshan Vijayan, Esha Singh et Afshin Mosahebi. « Genetic Editing in Plastic Surgery ». Aesthetic Surgery Journal 39, no 6 (27 mars 2019) : NP225—NP226. http://dx.doi.org/10.1093/asj/sjz064.
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Hajjar, Roger J., Fawzia Huq, Takashi Matsui et Anthony Rosenzweig. « Genetic editing of dysfunctional myocardium ». Medical Clinics of North America 87, no 2 (mars 2003) : 553–67. http://dx.doi.org/10.1016/s0025-7125(02)00175-x.
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