A Deletion in Exon 9 of the LIPH Gene Is Responsible for the Rex Hair Coat Phenotype in Rabbits (Oryctolagus cuniculus)

The fur of common rabbits is constituted of 3 types of hair differing in length and diameter while that of rex animals is essentially made up of amazingly soft down-hair. Rex short hair coat phenotypes in rabbits were shown to be controlled by three distinct loci. We focused on the “r1” mutation which segregates at a simple autosomal-recessive locus in our rabbit strains. A positional candidate gene approach was used to identify the rex gene and the corresponding mutation. The gene was primo-localized within a 40 cM region on rabbit chromosome 14 by genome scanning families of 187 rabbits in an experimental mating scheme. Then, fine mapping refined the region to 0.5 cM (Z = 78) by genotyping an additional 359 offspring for 94 microsatellites present or newly generated within the first defined interval. Comparative mapping pointed out a candidate gene in this 700 kb region, namely LIPH (Lipase Member H). In humans, several mutations in this major gene cause alopecia, hair loss phenotypes. The rabbit gene structure was established and a deletion of a single nucleotide was found in LIPH exon 9 of rex rabbits (1362delA). This mutation results in a frameshift and introduces a premature stop codon potentially shortening the protein by 19 amino acids. The association between this deletion and the rex phenotype was complete, as determined by its presence in our rabbit families and among a panel of 60 rex and its absence in all 60 non-rex rabbits. This strongly suggests that this deletion, in a homozygous state, is responsible for the rex phenotype in rabbits

A Deletion in Exon 9 of the LIPH Gene Is Responsible for the Rex Hair Coat Phenotype in Rabbits (Oryctolagus cuniculus)

The fur of common rabbits is constituted of 3 types of hair differing in length and diameter while that of rex animals is essentially made up of amazingly soft down-hair. Rex short hair coat phenotypes in rabbits were shown to be controlled by three distinct loci. We focused on the “r1” mutation which segregates at a simple autosomal-recessive locus in our rabbit strains. A positional candidate gene approach was used to identify the rex gene and the corresponding mutation. The gene was primo-localized within a 40 cM region on rabbit chromosome 14 by genome scanning families of 187 rabbits in an experimental mating scheme. Then, fine mapping refined the region to 0.5 cM (Z = 78) by genotyping an additional 359 offspring for 94 microsatellites present or newly generated within the first defined interval. Comparative mapping pointed out a candidate gene in this 700 kb region, namely LIPH (Lipase Member H). In humans, several mutations in this major gene cause alopecia, hair loss phenotypes. The rabbit gene structure was established and a deletion of a single nucleotide was found in LIPH exon 9 of rex rabbits (1362delA). This mutation results in a frameshift and introduces a premature stop codon potentially shortening the protein by 19 amino acids. The association between this deletion and the rex phenotype was complete, as determined by its presence in our rabbit families and among a panel of 60 rex and its absence in all 60 non-rex rabbits. This strongly suggests that this deletion, in a homozygous state, is responsible for the rex phenotype in rabbits

Extracorporeal Membrane Oxygenation for Severe Acute Respiratory Distress Syndrome associated with COVID-19: An Emulated Target Trial Analysis.

RATIONALE: Whether COVID patients may benefit from extracorporeal membrane oxygenation (ECMO) compared with conventional invasive mechanical ventilation (IMV) remains unknown. OBJECTIVES: To estimate the effect of ECMO on 90-Day mortality vs IMV only Methods: Among 4,244 critically ill adult patients with COVID-19 included in a multicenter cohort study, we emulated a target trial comparing the treatment strategies of initiating ECMO vs. no ECMO within 7 days of IMV in patients with severe acute respiratory distress syndrome (PaO2/FiO2 <80 or PaCO2 ≥60 mmHg). We controlled for confounding using a multivariable Cox model based on predefined variables. MAIN RESULTS: 1,235 patients met the full eligibility criteria for the emulated trial, among whom 164 patients initiated ECMO. The ECMO strategy had a higher survival probability at Day-7 from the onset of eligibility criteria (87% vs 83%, risk difference: 4%, 95% CI 0;9%) which decreased during follow-up (survival at Day-90: 63% vs 65%, risk difference: -2%, 95% CI -10;5%). However, ECMO was associated with higher survival when performed in high-volume ECMO centers or in regions where a specific ECMO network organization was set up to handle high demand, and when initiated within the first 4 days of MV and in profoundly hypoxemic patients. CONCLUSIONS: In an emulated trial based on a nationwide COVID-19 cohort, we found differential survival over time of an ECMO compared with a no-ECMO strategy. However, ECMO was consistently associated with better outcomes when performed in high-volume centers and in regions with ECMO capacities specifically organized to handle high demand. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/)

Réactivité visuo-manuelle, Contrôle du geste et Expertise sensorimotrice: étude en IRM fonctionnelle événementielle.

This study aims to identify the neural network involved in the intentional visuo-manual control and to explore behavioural and functional effects of a long term practice of sports, as fencing. The double step paradigm adapted to event-related fMRI study shows that intentional trajectory corrections conduct to an over-activation of the cerebral network underlying visuo-manual control (including occipital visual areas, parietal areas, frontal motor, premotor and oculomotor areas, thalamus, basal ganglia and the cerebellum). Fencers' visuomanual performances rely more on the associative and executive cerebral areas while control subjects' performances recruit more the visual areas. The visuomanual control relies on neural loop underlying operational modules gradually recruited related to the behavioural and environmental constraints. Sensorimotor expertise related to practice of sport can conduct to modify cerebral functional map.Etude en IRMf sur la réactivité visuo-manuelle intentionnelle et l'expertise sensorimotrice : la correction de trajectoire manuelle en cours de mouvement conduit à sur activer le réseau cérébral impliqué dans pointage direct (aires visuelles occipitales, associatives pariétales, frontales motrices, prémotrices et oculo-motrices, thalamus, ganglions de la base et cervelet). Les aires sensorielles et motrices primaires sont plus fortement sollicités chez les sujets contrôles, alors que les Escrimeurs activent plus fortement les aires d'intégration sensorimotrice de haut niveau (aires pariétales, prémotrices, sous-corticales et cérébelleuses). Le contrôle visuo-manuel semble donc reposer sur des boucles neuronales imbriquées, sous-tendant des modules opérationnels plus ou moins recrutés selon les contraintes d'exécution du mouvement. Il apparaît que l'expertise sensorimotrice liée à la pratique sportive peut conduire à des modifications des cartes fonctionnelles cérébrales

Réactivité visuo-manuelle, contrôle du geste et expertise motrice (étude en IRM fonctionnelle événementielle)

Etude en IRM sur la réactivité visuo-manuelle intentionnelle et l'expertise sensorimotrice : la correction de trajectoire manuelle en cours de mouvement conduit à sur activer le réseau cérébral impliqué dans pointage direct (aires visuelles occipitales, associatives pariétales, frontales motrices, prémotrices et oculo-motrices, thalamus, ganglions de la base et cervelet). Les aires sensorielles et motrices primaires sont plus fortement sollicités chez les sujets contrôles, alors que les Escrimeurs activent plus fortement les aires d'intégration sensorimotrice de haut niveau (aires pariétales, prémotrices, sous-corticales et cérébelleuses). Le contrôle visuo-manuel semble donc reposer sur des boucles neuronales imbriquées, sous-tendant des modules opérationnels plus ou moins recrutés selon les contraintes d'exécution du mouvement. Il apparaît que l'expertise sensorimotrice liée à la pratique sportive peut conduire à des modifications des cartes fonctionnelles cérébrales.GRENOBLE1-BU Sciences (384212103) / SudocSudocFranceF

Construction d'une carte intégrée génétique et cytogénétique chez le lapin européen (Oryctolagus cuniculus) (application à la primo- localisation du caractère rex)

Chez le lapin, la majorité des outils de cartographie étaient absents au démarrage du projet. Nous avons donc entrepris de construire une carte intégrée génétique et cytogénétique dans cette espèce et de l'utiliser pour localiser un caractère de fourrure intéressant particulièrement l'INRA, appelé rex. Notre objectif a été de produire simultanément une carte cytogénétique de gènes et de microsatellites pour construire ensuite une carte génétique en typant les microsatellites dans les familles de référence. Pour couvrir l'ensemble du génome de lapin, des gènes pour chaque bande chromosomique humaine ont été sélectionnés puis recherchés dans la banque de BAC. Les BAC identifiés ont ensuite été localisés par FISH sur les chromosomes de lapin et sous-clonés pour identifier des microsatellites. Des localisations pour 248 nouveaux gènes répartis sur tous les chromosomes ont été obtenues, enrichissant d'un facteur 8 la carte cytogénétique du lapin. Parmi les 305 microsatellites obtenus, 178 sont localisés sur tous les chromosomes de lapin sauf OCU21. Huit familles de référence de trois générations qui ségrégent pour le caractère rex, soit un total de 187 animaux, ont été produites. La carte génétique compte à ce jour 118 marqueurs, dont 94 sont répartis en 21 groupes de liaison ancrés sur 18 chromosomes de lapin et 22 sont orphelins mais avec une localisation cytogénétique. Au final, cette carte génétique couvre 2929 cM avec des microsatellites répartis sur tous les chromosomes sauf OCU20 et 21. La carte intégrée a été validée par la localisation de deux marqueurs phénotypiques, angora et albinos et a permis de localiser le caractère rex.Most mapping tools were still not developed at the beginning of the project for the rabbit. Therefore, we have undertaken to construct an integrated genetic and cytogenetic map and to use it to map the rex character, involved in the quality of rabbit fur. Our aim was to produce simultaneously a cytogenetic map containing genes and (TG)n or (TC)n microsatellites and to construct a genetic map by typing the microsatellites in reference families. In order to cover the whole of the rabbit genome with markers, genes for each human chromosomal band were selected and searched in the rabbit BAC library. Isolated BAC clones were localized by FISH on the rabbit chromosomes and then sub-cloned to produce microsatellite sequences. We have localized 248 new genes distributed over all the rabbit chromosomes, enriching 8-fold the rabbit cytogenetic map. Among the 305 microsatellites obtained, 178 were localized on every rabbit chromosome except OCU21. Eight reference rabbit families were produced with three generations and 187 animals in which the rex character segregates. To date, this genetic map contains 118 markers. Among these markers, 94 are distributed in 21 linkage groups anchored to 18 rabbit chromosomes, 22 are localized by FISH with genotyping information. In conclusion, this genetic map covers 2929 cM with microsatellites on all the chromosomes except OCU20 and 21, among which 51 are directly integrated in the cytogenetic map.The integrated map obtained during this work is validated by the localization of two phenotypic markers, angora and albinos. It has also made it possible to localize the rex characterVERSAILLES-BU Sciences et IUT (786462101) / SudocSudocFranceF

Les données récentes sur le génome du lapin

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La restauration scolaire en France : quelles leçons pour la Coalition pour l'alimentation scolaire ?

working paperInternational audienc

La restauration scolaire en France : quelles leçons pour la Coalition pour l'alimentation scolaire ?

working paperInternational audienc