176 research outputs found

    Causes de la différenciation génétique à une très petite échelle spatiale chez un oiseau insulaire (zosterops borbonicus)

    Get PDF
    Les îles fournissent des opportunités pour étudier comment la biodiversité colonise de nouveaux habitats et s'y diversifie en lignées endémiques. Nous avons étudié un cas possible de spéciation naissante chez un oiseau endémique de la Réunion (Zosterops borbonicus). Cette espèce présente un polymorphisme de coloration géographiquement structuré à une échelle spatiale rarement documentée chez les oiseaux. Nous avons étudié la restriction au flux génique le long d'un gradient altitudinal. Pour ce faire, nous avons confronté les patrons de différenciation phénotypique et génétique à ceux de variation environnementale. Nos résultats font état d'une dispersion extrêmement limitée chez cette espèce. Des facteurs d'ordre écologique mais aussi comportementaux seraient en mesure d'expliquer la très faible échelle spatiale de cette divergence.Oceanic islands provide opportunities for studying how biodiversity colonizes new habitats and speciates within. We studied a possible case of incipient speciation in a bird endemic of Réunion (Zosterops borbonicus). This species exhibits a colour polymorphism geographically structured at a spatial scale rarely documented for birds. We investigated restriction in gene flow along an altitudinal gradient. We compared patterns of phenotypic and genetic differentiation to those of environmental variation. Our results show that dispersal is extremely limited in this species. Ecological factors and behavioural may explain the small spatial scale of this divergence

    Investigating the role of the Melanocortin-1 Receptor gene in an extreme case of microgeographical variation in the pattern of melanin-based plumage pigmentation

    Get PDF
    Received: August 23, 2012; Accepted: October 26, 2012; Published: December 5, 2012The Réunion grey white-eye (Zosterops borbonicus) is a single-island endemic passerine bird that exhibits striking geographically structured melanic polymorphism at a very small spatial scale. We investigated the genetic basis of this color polymorphism by testing whether the melanocortin-1 receptor (MC1R), a gene often involved in natural melanic polymorphism in birds, was associated with the observed plumage variation. Although we found three non-synonymous mutations, we detected no association between MC1R variants and color morphs, and the main amino-acid variant found in the Réunion grey white-eye was also present at high frequency in the Mauritius grey white-eye (Zosterops mauritianus), its sister species which shows no melanic polymorphism. In addition, neutrality tests and analysis of population structure did not reveal any obvious pattern of positive or balancing selection acting on MC1R. Altogether these results indicate that MC1R does not play a role in explaining the melanic variation observed in the Réunion grey white-eye. We propose that other genes such as POMC, Agouti or any other genes involved in pigment synthesis will need to be investigated in future studies if we are to understand how selection shapes complex patterns of melanin-based plumage pigmentation.Peer reviewe

    " Look At This One " Detection sharing between modality-independent classifiers for robotic discovery of people

    Get PDF
    International audienceWith the advent of low-cost RGBD sensors, many solutions have been proposed for extraction and fusion of colour and depth information. In this paper, we propose new different fusion approaches of these multimodal sources for people detection. We are especially concerned by a scenario where a robot evolves in a changing environment. We extend the use of the Faster RCNN framework proposed by Girshick et al. [1] to this use case (i), we significantly improve performances on people detection on the InOutDoor RGBD People dataset [2] and the RGBD people dataset [3] (ii), we show these fusion handle efficiently sensor defect like complete lost of a modality (iii). Furthermore we propose a new dataset for people detection in difficult conditions: ONERA.ROOM (iv)

    Duplications at 19q13.33 in patients with neurodevelopmental disorders

    Get PDF
    Objective After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). Methods We exploredClinVar (number ofCNVs = 50,794) andDECIPHER (number ofCNVs = 28,085) clinical databases of genomic variations for patients with copy number changes overlapping the GRIN2D gene at the 19q13.33 locus and evaluated their respective phenotype alongside their frequency, gene content, and expression, with publicly available reference databases. Results We identified 11 patients with microduplications at the 19q13.33 locus. The majority of CNVs arose de novo, and comparable CNVs are not present in control databases. All patients were reported to have NDDs and dysmorphic features as the most common clinical phenotype (N = 8/11), followed by seizures (N = 6/11) and intellectual disability (N = 5/11). All duplications shared a consensus region of 405 kb overlapping 13 genes. After screening for duplication tolerance in control populations, positive gene brain expression, and gene dosage sensitivity analysis, we highlight 4 genes for future evaluation: CARD8, C19orf68, KDELR1, and GRIN2D, which are promising candidates for disease causality. Furthermore, investigation of the literature especially supports GRIN2D as the best candidate gene. Conclusions Our study presents dup19q13.33 as a novel duplication syndrome locus associated with NDDs. CARD8, C19orf68, KDELR1, and GRIN2D are promising candidates for functional follow-up.Peer reviewe

    SnapNet-R: Consistent 3D Multi-View Semantic Labeling for Robotics

    Get PDF
    International audienceIn this paper we present a new approach for semantic recognition in the context of robotics. When a robot evolves in its environment, it gets 3D information given either by its sensors or by its own motion through 3D reconstruction. Our approach uses (i) 3D-coherent synthesis of scene observations and (ii) mix them in a multi-view framework for 3D labeling. (iii) This is efficient locally (for 2D semantic segmentation) and globally (for 3D structure labeling). This allows to add semantics to the observed scene that goes beyond simple image classification, as shown on challenging datasets such as SUNRGBD or the 3DRMS Reconstruction Challenge

    SHREC'17 Track: 3D Hand Gesture Recognition Using a Depth and Skeletal Dataset

    Get PDF
    International audienceHand gesture recognition is recently becoming one of the most attractive field of research in pattern recognition. The objective of this track is to evaluate the performance of recent recognition approaches using a challenging hand gesture dataset containing 14 gestures, performed by 28 participants executing the same gesture with two different numbers of fingers. Two research groups have participated to this track, the accuracy of their recognition algorithms have been evaluated and compared to three other state-of-the-art approaches

    Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

    Get PDF

    The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.

    Get PDF
    ABSTRACT: A global genome database of all of Earth’s species diversity could be a treasure trove of scientific discoveries. However, regardless of the major advances in genome sequencing technologies, only a tiny fraction of species have genomic information available. To contribute to a more complete planetary genomic database, scientists and institutions across the world have united under the Earth BioGenome Project (EBP), which plans to sequence and assemble high-quality reference genomes for all ∼1.5 million recognized eukaryotic species through a stepwise phased approach. As the initiative transitions into Phase II, where 150,000 species are to be sequenced in just four years, worldwide participation in the project will be fundamental to success. As the European node of the EBP, the European Reference Genome Atlas (ERGA) seeks to implement a new decentralised, accessible, equitable and inclusive model for producing high-quality reference genomes, which will inform EBP as it scales. To embark on this mission, ERGA launched a Pilot Project to establish a network across Europe to develop and test the first infrastructure of its kind for the coordinated and distributed reference genome production on 98 European eukaryotic species from sample providers across 33 European countries. Here we outline the process and challenges faced during the development of a pilot infrastructure for the production of reference genome resources, and explore the effectiveness of this approach in terms of high-quality reference genome production, considering also equity and inclusion. The outcomes and lessons learned during this pilot provide a solid foundation for ERGA while offering key learnings to other transnational and national genomic resource projects.info:eu-repo/semantics/publishedVersio

    Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

    Full text link
    IMPORTANCE The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P 100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits
    • …
    corecore