Search results for "Editing"

Apuntes de sociología biojurídica a partir de la edición genética germinal

2020

Objetivo del presente artículo es poner de relieve las contradicciones de la relación entre bioética y bioderecho que, lejos de ser un problema meramente teórico, tiene un impacto real en las reglamentaciones de las innovaciones en el campo de la biomedicina. Con el ánimo de demostrar esa fuerte conexión de la cuestión aparentemente teórica con la praxis, el ensayo, dotado de una metodología inductiva, moverá sus primeros pasos a partir de las técnicas de edición genética germinal. En la primera parte del trabajo se aclararán matices científicos de dichas técnicas y se presentarán los primeros avances de la reglamentación jurídica que tienen su origen en el Consejo de Europa. Finalmente, a …

2015

The combination of Reverse Transcription (RT) and high-throughput sequencing has emerged as a powerful combination to detect modified nucleotides in RNA via analysis of either abortive RT-products or of the incorporation of mismatched dNTPs into cDNA. Here we simultaneously analyze both parameters in detail with respect to the occurrence of N-1-methyladenosine (m(1)A) in the template RNA. This naturally occurring modification is associated with structural effects, but it is also known as a mediator of antibiotic resistance in ribosomal RNA. In structural probing experiments with dimethylsulfate, m(1)A is routinely detected by RT-arrest. A specifically developed RNA-Seq protocol was tailored…

Translational adaptation to heat stress is mediated by RNA 5‐methylcytosine in Caenorhabditis elegans

2021

Abstract Methylation of carbon‐5 of cytosines (m5C) is a post‐transcriptional nucleotide modification of RNA found in all kingdoms of life. While individual m5C‐methyltransferases have been studied, the impact of the global cytosine‐5 methylome on development, homeostasis and stress remains unknown. Here, using Caenorhabditis elegans, we generated the first organism devoid of m5C in RNA, demonstrating that this modification is non‐essential. Using this genetic tool, we determine the localisation and enzymatic specificity of m5C sites in the RNome in vivo. We find that NSUN‐4 acts as a dual rRNA and tRNA methyltransferase in C. elegans mitochondria. In agreement with leucine and proline bein…

RNA nucleotide methylation

2011

Methylation of RNA occurs at a variety of atoms, nucleotides, sequences and tertiary structures. Strongly related to other posttranscriptional modifications, methylation of different RNA species includes tRNA, rRNA, mRNA, tmRNA, snRNA, snoRNA, miRNA, and viral RNA. Different catalytic strategies are employed for RNA methylation by a variety of RNA-methyltransferases which fall into four superfamilies. This review outlines the different functions of methyl groups in RNA, including biophysical, biochemical and metabolic stabilization of RNA, quality control, resistance to antibiotics, mRNA reading frame maintenance, deciphering of normal and altered genetic code, selenocysteine incorporation,…

Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?

2020

Gene therapy is an alternative therapy in many respiratory diseases with genetic origin and currently without curative treatment. After five decades of progress, many different vectors and gene editing tools for genetic engineering are now available. However, we are still a long way from achieving a safe and efficient approach to gene therapy application in clinical practice. Here, we review three of the most common rare respiratory conditions—cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), and primary ciliary dyskinesia (PCD)—alongside attempts to develop genetic treatment for these diseases. Since the 1990s, gene augmentation therapy has been applied in multiple clinical tria…

Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.

2020

ABSTRACTShprintzen-Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap with Marfan and Loeys-Dietz syndromes. These syndromes have commonly been associated with enhanced TGF-β signaling. In SGS patients, heterozygous point mutations have been mapped to the transcriptional corepressor SKI, which is a negative regulator of TGF-β signaling that is rapidly degraded upon ligand stimulation. The molecular consequences of these mutations, however, are not understood. Here we use a combination of structural biology, genome editing and biochemistry to show that SGS mutations in SKI abolish its binding to phosphorylated SMAD2 and SMAD3. This resul…

The Selaginella Genome Identifies Genetic Changes Associated with the Evolution of Vascular Plants

2011

International audience; Vascular plants appeared ~410 million years ago, then diverged into several lineages of which only two survive: the euphyllophytes (ferns and seed plants) and the lycophytes. We report here the genome sequence of the lycophyte Selaginella moellendorffii (Selaginella), the first nonseed vascular plant genome reported. By comparing gene content in evolutionarily diverse taxa, we found that the transition from a gametophyte- to a sporophyte-dominated life cycle required far fewer new genes than the transition from a nonseed vascular to a flowering plant, whereas secondary metabolic genes expanded extensively and in parallel in the lycophyte and angiosperm lineages. Sela…

Saliency Based Aesthetic Cut of Digital Images

2013

Aesthetic cut of photos is a process well known to professional photographers. It consists of cutting the original photo to remove less relevant parts close to the borders leaving in this way the interesting subjects in a position that is perceived by the observer as more pleasant. In this paper we propose a saliency based technique to automatically perform aesthetic cut in images. We use a standard method to estimate the saliency map and propose some post processing on the map to make it more suitable for our scope. We then apply a greedy algorithm to determine the cut (i.e. the most important part of the original image) both in the cases of free and fixed aspect ratio. Experimental result…

Editing and Montage in International Film and Video: Theory and Technique

2018

Resenha do livro.

Terapia genica. Un'indagine biogiuridica

2018

L’opera, inquadrata in quell’ambito di ricerca ormai comunemente individuato come “biodiritto”, si occupa in particolare della terapia genica, più specificamente nella sua versione germinale, indagando sulle ricadute che l’uso di tali tecniche può implicare per il sistema giuridico, il quale ha dovuto — come spesso accade — cercare di offrire una disciplina il più possibile coerente a un fenomeno del tutto nuovo, pur facendo spesso riferimento a istituti e principi sorti per regolamentare fattispecie affatto differenti. Nella ricostruzione delle fonti giuridiche esistenti e delle prime policies in materia, l’autore non si è potuto esimere da un’analisi della giurisprudenza e dell’evoluzione…