Search results for " loci"
showing 10 items of 227 documents
Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
2014
Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedure to assess the potential pathogenic role of microRNA genes overlapping de novo CNVs in ASD patients. Here we show that for chromosomes # 1, 2 and 22 the actual number of miRNA loci affected by de novo CNVs in patients was found significantly higher than that estimated by Monte Carlo simulation of random CNV events. Out of 24 miRNA genes over-represented in CNVs from these three chromosomes only …
Genome-wide detection of signatures of selection in three Valdostana cattle populations
2020
International audience; The Valdostana is a local dual purpose cattle breed developed in Italy. Three populations are recognized within this breed, based on coat colour, production level, morphology and temperament: Valdostana Red Pied (VPR), Valdostana Black Pied (VPN) and Valdostana Chestnut (VCA). Here, we investigated putative genomic regions under selection among these three populations using the Bovine 50K SNP array by combining three different statistical methods based either on allele frequencies (F-ST) or extended haplotype homozygosity (iHS and Rsb). In total, 8, 5 and 8 chromosomes harbouring 13, 13 and 16 genomic regions potentially under selection were identified by at least tw…
The Coble Quadric
2023
Given a smooth genus three curve $C$, the moduli space of rank two stable vector bundles on C with trivial determinant embeds in $\mathbb{P}^8$ as a hypersurface whose singular locus is the Kummer threefold of $C$; this hypersurface is the Coble quartic. Gruson, Sam and Weyman realized that this quartic could be constructed from a general skew-symmetric fourform in eight variables. Using the lines contained in the quartic, we prove that a similar construction allows to recover SU$_C(2, L)$, the moduli space of rank two stable vector bundles on C with fixed determinant of odd degree L, as a subvariety of $G(2, 8)$. In fact, each point $p \in C$ defines a natural embedding of SU$_C(2, \mathca…
TWJ-Screen: an isothermal screening assay to assess ligand/DNA junction interactions in vitro
2017
International audience; The quest for chemicals able to operate at selected genomic loci in a spatiotemporally controlled manner is desirable to create manageable DNA damages. Mounting evidence now shows that alternative DNA structures, including G-quadruplexes and branched DNA (or DNA junctions), might hamper proper progression of replication fork, thus triggering DNA damages and genomic instability. Therefore, small molecules that stabilize these DNA structures are currently scrutinized as a promising way to create genomic defects that cannot be dealt with properly by cancer cells. While much emphasis has been recently given to G-quadruplexes and related ligands, we report herein on three…
Network reconstruction for trans acting genetic loci using multi-omics data and prior information.
2022
Background: Molecular measurements of the genome, the transcriptome, and the epigenome, often termed multi-omics data, provide an in-depth view on biological systems and their integration is crucial for gaining insights in complex regulatory processes. These data can be used to explain disease related genetic variants by linking them to intermediate molecular traits (quantitative trait loci, QTL). Molecular networks regulating cellular processes leave footprints in QTL results as so-called trans-QTL hotspots. Reconstructing these networks is a complex endeavor and use of biological prior information can improve network inference. However, previous efforts were limited in the types of priors…
Genomic determinants of speciation and spread of the Mycobacterium tuberculosis complex
2019
14 páginas, 6 figuras
Mpdz is a quantitative trait gene for drug withdrawal seizures
2004
Physiological dependence and associated withdrawal episodes can constitute a powerful motivational force that perpetuates drug use and abuse. Using robust behavioral models of drug physiological dependence in mice, positional cloning, and sequence and expression analyses, we identified an addiction-relevant quantitative trait gene, Mpdz. Our findings provide a framework to define the protein interactions and neural circuit by which this gene's product (multiple PDZ domain protein) affects drug dependence, withdrawal and relapse.
Identification of the essential protein domains for Mib2 function during the development of the Drosophila larval musculature and adult flight muscles
2016
The proper differentiation and maintenance of myofibers is fundamental to a functional musculature. Disruption of numerous mostly structural factors leads to perturbations of these processes. Among the limited number of known regulatory factors for these processes is Mind bomb2 (Mib2), a muscle-associated E3 ubiquitin ligase, which was previously established to be required for maintaining the integrity of larval muscles. In this study, we have examined the mechanistic aspects of Mib2 function by performing a detailed functional dissection of the Mib2 protein. We show that the ankyrin repeats, in its entirety, and the hitherto uncharacterized Mib-specific domains (MIB), are important for the…
Archetipolatria e summa iconologica
2015
Simboli ed attributi intesi quali vulgata iconografica delle virtù della città di Palermo, posti a corredo del suo nume tutelare, secondo il distico strofico epigrafico del gruppo scultoreo del Marabitti, nella mitopoietica Flora Julia, assurgono, insieme ai loro significati opposti, a chiave di interpretazione ermeneutica dell'opera di Enzo Venezia. L’applicazione di attente e ricercate strutture compositive, e l'abilità (da architetto) di "architetturare" la visione e, soprattutto, la rappresentazione delle cose, genera la cura per l'insieme e per il particolare verboso e magniloquente, in grado di divenire sostanza principale e tema conduttore di ogni struttura narrativa; un registro est…
Ettore Spalletti. Lo "spazio per creare" come "spazio della memoria"
2019
Una riflessione sul ruolo della memoria e dei luoghi nell'arte di Ettore Spalletti. Tra gli artisti italiani contemporanei, Ettore Spalletti è senza dubbio uno dei più conosciuti e celebrati al mondo. Nato a Cappelle sul Tavo, nell’entroterra pescarese, sin dagli inizi degli anni sessanta Spalletti sperimenta con intensità un’appassionante ricerca sulla pittura tonale e sulla forma scultorea essenziale. Un’indagine che affonda le proprie radici nella tradizione pittorica italiana – con particolare riferimento a quella appenninica e rinascimentale – e che risale il tempo della storia dell’arte passando per il Minimalismo artistico contemporaneo e l’arte Concettuale.