37 research outputs found

    Evidence After Imputation for a Role of MICA Variants in Nonprogression and Elite Control of HIV Type 1 Infection

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    Past genome-wide association studies (GWAS) involving individuals with AIDS have mainly identified associations in the HLA region. Using the latest software, we imputed 7 million single-nucleotide polymorphisms (SNPs)/indels of the 1000 Genomes Project from the GWAS-determined genotypes of individuals in the Genomics of Resistance to Immunodeficiency Virus AIDS nonprogression cohort and compared them with those of control cohorts. The strongest signals were in MICA, the gene encoding major histocompatibility class I polypeptide-related sequence A (P = 3.31 × 10−12), with a particular exonic deletion (P = 1.59 × 10−8) in full linkage disequilibrium with the reference HCP5 rs2395029 SNP. Haplotype analysis also revealed an additive effect between HLA-C, HLA-B, and MICA variants. These data suggest a role for MICA in progression and elite control of human immunodeficiency virus type 1 infectio

    Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes

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    Understanding the mechanisms driving lineage-specific evolution in both primates and rodents has been hindered by the lack of sister clades with a similar phylogenetic structure having high-quality genome assemblies. Here, we have created chromosome-level assemblies of the Mus caroli and Mus pahari genomes. Together with the Mus musculus and Rattus norvegicus genomes, this set of rodent genomes is similar in divergence times to the Hominidae (human-chimpanzee-gorilla-orangutan). By comparing the evolutionary dynamics between the Muridae and Hominidae, we identified punctate events of chromosome reshuffling that shaped the ancestral karyotype of Mus musculus and Mus caroli between 3 and 6 million yr ago, but that are absent in the Hominidae. Hominidae show between four- and sevenfold lower rates of nucleotide change and feature turnover in both neutral and functional sequences, suggesting an underlying coherence to the Muridae acceleration. Our system of matched, high-quality genome assemblies revealed how specific classes of repeats can play lineage-specific roles in related species. Recent LINE activity has remodeled protein-coding loci to a greater extent across the Muridae than the Hominidae, with functional consequences at the species level such as reproductive isolation. Furthermore, we charted a Muridae-specific retrotransposon expansion at unprecedented resolution, revealing how a single nucleotide mutation transformed a specific SINE element into an active CTCF binding site carrier specifically in Mus caroli, which resulted in thousands of novel, species-specific CTCF binding sites. Our results show that the comparison of matched phylogenetic sets of genomes will be an increasingly powerful strategy for understanding mammalian biology

    Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes.

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    Understanding the mechanisms driving lineage-specific evolution in both primates and rodents has been hindered by the lack of sister clades with a similar phylogenetic structure having high-quality genome assemblies. Here, we have created chromosome-level assemblies of the Mus caroli and Mus pahari genomes. Together with the Mus musculus and Rattus norvegicus genomes, this set of rodent genomes is similar in divergence times to the Hominidae (human-chimpanzee-gorilla-orangutan). By comparing the evolutionary dynamics between the Muridae and Hominidae, we identified punctate events of chromosome reshuffling that shaped the ancestral karyotype of Mus musculus and Mus caroli between 3 and 6 million yr ago, but that are absent in the Hominidae. Hominidae show between four- and sevenfold lower rates of nucleotide change and feature turnover in both neutral and functional sequences, suggesting an underlying coherence to the Muridae acceleration. Our system of matched, high-quality genome assemblies revealed how specific classes of repeats can play lineage-specific roles in related species. Recent LINE activity has remodeled protein-coding loci to a greater extent across the Muridae than the Hominidae, with functional consequences at the species level such as reproductive isolation. Furthermore, we charted a Muridae-specific retrotransposon expansion at unprecedented resolution, revealing how a single nucleotide mutation transformed a specific SINE element into an active CTCF binding site carrier specifically in Mus caroli, which resulted in thousands of novel, species-specific CTCF binding sites. Our results show that the comparison of matched phylogenetic sets of genomes will be an increasingly powerful strategy for understanding mammalian biology

    Physical properties of the trans-Neptunian binary 2000 YW₁₃₄

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    The study of trans-Neptunian binaries (TNBs) remains one of the most active areas of progress in understanding the solar system beyond Neptune. TNBs have been found in every dynamical population of the trans-Neptunian region (Noll et al. 2020), with proportions ranging from 29 % in the cold classical population to 5.5 % for the remaining classes combined (Brunini 2020). The formation of the contact TNB Arrokoth is one of the challenges that formation models face nowadays. The current angular momentum of Arrokoth is too low and the current binary formation scenarios, by either rotational fission or streaming instability (NesvornĂœ et al. 2019), require also loss of angular momentum (McKinnon et al. 2020). Additionally, formation mechanisms of close binaries may be distinct from those for the wider pairs. As the angular momentum of a system approaches that of an object spinning near its critical rotation period, rotational fission is the most likely explanation for their formation (Descamps et al. 2008), which is thought to be the case for the proposed satellites of Varuna and 2002 TC302 systems (FernĂĄndez-Valenzuela et al. 2019; Ortiz et al. 2020). If close TNBs turn out to be common for objects rotating close to the breakup limit, that could reveal important clues about angular momentum evolution during accretion for TNOs (Petit et al. 2011). However, characterizing binary systems at such distances is challenging. From the ~120 known TNBs, only around 40 have their mutual orbit fully determined, let alone physical characterization. 2000 YW134 is a TNB in a 3:8 resonance with an orbital semi-major axis of 57.4 au (a rare occurrence). On February 23rd, 2022, it occulted the Gaia EDR3 star 627356458358636544 (V = 17.1 mag). The stellar occultation was initially predicted using the JPL orbit solution #24, and updated using data from the 1.5-m and 1.23-m telescopes at Sierra Nevada and Calar Alto Observatories, using the same methodology as explained in Ortiz et al (2020). From the 17 observatories involved, seven reported positive chords, with five of them corresponding to the main body and the other two chords corresponding to its satellite. We are currently working on the analysis of these data in order to obtain the physical properties that characterize the system. Preliminary results show that the lower limit for the equivalent projected diameter of the satellite is twice the previously estimated size from HST observations (Stephens et al. 2006). We will also compare our results with the area-equivalent diameter and albedo obtained using thermal data from Herschel and Spitzer observations (Farkas-TakĂĄcs et al. 2020)

    The pathemic competence : towards a substantive theoretical model of the kinesic end pragmatic modulation of emotional expressions in interacting adults

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    Les compĂ©tences liĂ©es Ă  la gestion des relations sociales, des affects et de la communication interpersonnelle caractĂ©risent la disposition d’un individu Ă  interagir avec son entourage de façon optimale et prosociale.Leurs influences sur la qualitĂ© de vie professionnelle et personnelle en font des compĂ©tences de plus en plus recherchĂ©es chez l’adulte. L’expression d’affect (EA) non verbale adaptĂ©e Ă  la situation d’énonciation tient un rĂŽle central, mais les faiblesses de conceptualisation des compĂ©tences socioaffectives qui aident Ă  la gestion de ces EA appellent Ă  une modĂ©lisation opĂ©ratoire de leurs composantes, dans l’optique d’une application Ă©ducative claire et Ă©clairĂ©e.La compĂ©tence pathĂ©mique aborde ce phĂ©nomĂšne sous un angle Ă  la fois pragmatique, non verbal et affectif. Notre thĂšse vise Ă  modĂ©liser cette compĂ©tence via un devis mĂ©thodologique de type phĂ©nomĂ©nologique, Ă  partir d’une sĂ©rie d’entretiens d’explicitation menĂ©s auprĂšs d’adultes (1) en dĂ©crivant les composantes de la compĂ©tence pathĂ©mique Ă©nactĂ©es dans l’interaction et (2) en identifiant leur co-fonctionnement. Les rĂ©sultats prĂ©sentent ces composantes comme suit : l’individu mobilise des ressources pour rĂ©aliser des actions, dans un carrĂ© situationnel donnĂ©, motivĂ©es et dĂ©terminĂ©es par son agentivitĂ© face aux enjeux que soulĂšvent l’interaction.Skills associated with the management of social relationships, affects and interpersonal communication determine an individual’s ability to interact optimally and pro-socially with their peers. Such skills influence professional and personal quality of life and are therefore increasingly valued and sought after. While the nonverbal expression of affect (EA) adapted to social interactions plays a central part, theoretical weaknesses in conceptualising socioaffective skills used in the management of nonverbal EAs call for a practice-relevant modeling of their components to suggest clear and informed educational applications. The concept of pathemic competence approaches this issue from a pragmatic, nonverbal and affective angle. This doctoral thesis aims at modeling a theory of this competence with a phenomenological methodology. After using the explicitation interview techniques with adults, the data was analysed (1) to identify and describe the pathemic competence components at play during social interactions and (2) to map out their systemic relationships. The results present these components as follows: an individual mobilizes resources to perform actions—in a given situational square—which are motivated and determined by the individual’s agency when considering the interaction’s stakes

    Évaluation transdisciplinaire d’un nouveau modĂšle thĂ©orique d’habiletĂ© socioaffective : la compĂ©tence pathĂ©mique

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    Avec l’augmentation de l’attention globale sur la qualitĂ© des relations humaines, les habiletĂ©s socioaffectives sont au coeur de nombreuses prĂ©occupations sociĂ©tales, scientifiques et curriculaires. Ces prĂ©occupations ont donnĂ© lieu Ă  de nombreuses conceptualisations multidisciplinaires, et une rĂ©flexion transdisciplinaire permettrait de participer Ă  la mise en lien de ces savoirs et de proposer possiblement des pistes plus opĂ©rationnelles pour l’éducation aux habiletĂ©s socioaffectives. Cet article Ă©taye cette problĂ©matique et propose d’évaluer le potentiel transdisciplinaire et opĂ©ratoire d’un modĂšle thĂ©orique enracinĂ© issu d’une recherche doctorale bidisciplinaire : la compĂ©tence pathĂ©mique. ThĂ©orisĂ©e Ă  partir de verbatims d’explicitation, cette compĂ©tence fait Ă©tat de la gestion socioaffective des expressions d’affect (verbales et corporelles) d’adultes en situation d’interaction interpersonnelle. Les rĂ©sultats de cette recherche sont prĂ©sentĂ©s et mis en parallĂšle avec des conceptualisations issues de diffĂ©rents champs disciplinaires, afin de proposer des pistes de thĂ©orisation gĂ©nĂ©rale et opĂ©ratoire pour le dĂ©veloppement socioaffectif des individus

    Application de la reconstruction en trois dimensions du ségment antérieur par échographie haute fréquence à l'implantation phaque de chambre postérieure

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    Si la chirurgie rĂ©fractive par implantation phaque de chambre postĂ©rieure a fait la preuve de son efficacitĂ© et de sa reproductibilitĂ© rĂ©fractives dans la correction des fortes amĂ©tropies, elle n'offre pas Ă  l'heure actuelle toutes les garanties en terme de sĂ©curitĂ© anatomique du fait d un dimensionnement de l'implant imparfait. Parmi tous les imageurs du segment antĂ©rieur, seule l'Ă©chographie trĂšs haute frĂ©quence permet d'accĂ©der Ă  la connaissance anatomique tridimensionnelle de la chambre postĂ©rieure, nĂ©cessaire Ă  l'ajustage sur mesure de l'implant au sulcus ciliaire. Les avantages et les limites d un premier prototype reposant sur un balayage translationnel "main libre" avec systĂšme de localisation externe, nous ont conduit Ă  l'Ă©laboration d un nouveau prototype d'Ă©chographie tridimensionnelle par rotation axiale motorisĂ©e, dont l'objectif est la reprĂ©sentation qualitative du volume de la chambre postĂ©rieure. La reconstruction 3D du sulcus ciliaire dĂ©sormais effective sur 360, prĂ©sente des imperfections en relation avec l'imprĂ©cision de la dĂ©termination de l'axe de rotation de la sonde qui empĂȘche toute Ă©valuation quantitative du site d implantation. Au dela de ce travail initial, les prochaines Ă©tapes comprennent en premier lieu la dĂ©finition mathĂ©matique du volume chambre postĂ©rieure en 3D, puis l'Ă©tude des interactions spatiales de l'implant au sein de la chambre postĂ©rieure y compris lors du phĂ©nomĂ©ne d'accomodation.BREST-BU MĂ©decine-Odontologie (290192102) / SudocSudocFranceF

    Variation d'estimation de température selon les échelles administratives

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    SAGEO'2023, 6-8 juin 2023, UniversitĂ© Laval, QuĂ©bec, https://crdig.ulaval.ca/sageo2023/International audienceIn this article, nous study the effect of the spatial support on the tem-perature measurement in the French region of Provence Alpes CĂŽte d’Azur, accor-ding to two different sets of data: 142 meteorological channels and more than 6500points of the Aladin’s model grid. Using these measures, it can be helpful to providerelevant meteorological information at a certain aggregated scale, from the munici-pality to the « department ». Thanks to a method already applied to (bio)diversityand land transactions purpose, aiming at removing the spatial support effect, weshow that the scale of the « canton » seems, in most of the cases, the scale the far-thest from the random distribution of temperatures, this partitioning being the spa-tial entities with a maximum of homogeneity in the entities, and the maximum ofheterogeneity between entities. The results are discussed and generalized.Dans cet article, nous explorons l’effet du support spatial sur la mesuredes tempĂ©ratures de la rĂ©gion Provence Alpes CĂŽte d’Azur selon deux semis de points :les stations mĂ©tĂ©orologiques (au nombre de 142) et les points de la grille des mo-dĂšles Aladin (soit plus de 6500 points). À partir de ces mesures, il peut ĂȘtre utile derestituer Ă  une Ă©chelle agrĂ©gĂ©e, de la commune au dĂ©partement, l’information mĂ©-tĂ©orologique. À l’aide d’une mĂ©thode dĂ©jĂ  appliquĂ©e Ă  des donnĂ©es de diversitĂ© Ă©co-logique et de transactions immobiliĂšres, visant Ă  Ă©liminer l’effet du support spatial,nous montrons que le canton semble ĂȘtre, dans la quasi-totalitĂ© des cas, l’échelle derestitution qui s’éloigne le plus d’une rĂ©partition alĂ©atoire des tempĂ©ratures, c’estĂ  dire avec un maximum d’homogĂ©nĂ©itĂ© par entitĂ© et d’hĂ©tĂ©rogĂ©nĂ©itĂ© entre entitĂ©s.Ces rĂ©sultats sont discutĂ©s et la mĂ©thode est mise en perspective de gĂ©nĂ©ralisation
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