Mapping quantitative trait loci affecting fatness and breast muscle weight in meat-type chicken lines divergently selected on abdominal fatness

Quantitative trait loci (QTL) for abdominal fatness and breast muscle weight were investigated in a three-generation design performed by inter-crossing two experimental meat-type chicken lines that were divergently selected on abdominal fatness. A total of 585 F2 male offspring from 5 F1 sires and 38 F1 dams were recorded at 8 weeks of age for live body, abdominal fat and breast muscle weights. One hundred-twenty nine microsatellite markers, evenly located throughout the genome and heterozygous for most of the F1 sires, were used for genotyping the F2 birds. In each sire family, those offspring exhibiting the most extreme values for each trait were genotyped. Multipoint QTL analyses using maximum likelihood methods were performed for abdominal fat and breast muscle weights, which were corrected for the effects of 8-week body weight, dam and hatching group. Isolated markers were assessed by analyses of variance. Two significant QTL were identified on chromosomes 1 and 5 with effects of about one within-family residual standard deviation. One breast muscle QTL was identified on GGA1 with an effect of 2.0 within-family residual standard deviation

Epilepsy Caused by an Abnormal Alternative Splicing with Dosage Effect of the SV2A Gene in a Chicken Model

Photosensitive reflex epilepsy is caused by the combination of an individual's enhanced sensitivity with relevant light stimuli, such as stroboscopic lights or video games. This is the most common reflex epilepsy in humans; it is characterized by the photoparoxysmal response, which is an abnormal electroencephalographic reaction, and seizures triggered by intermittent light stimulation. Here, by using genetic mapping, sequencing and functional analyses, we report that a mutation in the acceptor site of the second intron of SV2A (the gene encoding synaptic vesicle glycoprotein 2A) is causing photosensitive reflex epilepsy in a unique vertebrate model, the Fepi chicken strain, a spontaneous model where the neurological disorder is inherited as an autosomal recessive mutation. This mutation causes an aberrant splicing event and significantly reduces the level of SV2A mRNA in homozygous carriers. Levetiracetam, a second generation antiepileptic drug, is known to bind SV2A, and SV2A knock-out mice develop seizures soon after birth and usually die within three weeks. The Fepi chicken survives to adulthood and responds to levetiracetam, suggesting that the low-level expression of SV2A in these animals is sufficient to allow survival, but does not protect against seizures. Thus, the Fepi chicken model shows that the role of the SV2A pathway in the brain is conserved between birds and mammals, in spite of a large phylogenetic distance. The Fepi model appears particularly useful for further studies of physiopathology of reflex epilepsy, in comparison with induced models of epilepsy in rodents. Consequently, SV2A is a very attractive candidate gene for analysis in the context of both mono- and polygenic generalized epilepsies in humans

DUX4c Is Up-Regulated in FSHD. It Induces the MYF5 Protein and Human Myoblast Proliferation

Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed in FSHD but not control myoblasts. DUX4 and its target genes contribute to the global dysregulation of gene expression observed in FSHD. We have now characterized the homologous DUX4c gene mapped 42 kb centromeric of the D4Z4 repeat array. It encodes a 47-kDa protein with a double homeodomain identical to DUX4 but divergent in the carboxyl-terminal region. DUX4c was detected in primary myoblast extracts by Western blot with a specific antiserum, and was induced upon differentiation. The protein was increased about 2-fold in FSHD versus control myotubes but reached 2-10-fold induction in FSHD muscle biopsies. We have shown by Western blot and by a DNA-binding assay that DUX4c over-expression induced the MYF5 myogenic regulator and its DNA-binding activity. DUX4c might stabilize the MYF5 protein as we detected their interaction by co-immunoprecipitation. In keeping with the known role of Myf5 in myoblast accumulation during mouse muscle regeneration DUX4c over-expression activated proliferation of human primary myoblasts and inhibited their differentiation. Altogether, these results suggested that DUX4c could be involved in muscle regeneration and that changes in its expression could contribute to the FSHD pathology

Les plantes anti-VIH

LILLE2-BU Santé-Recherche (593502101) / SudocSudocFranceF

Crop Diversity Management System Commons: Revisiting the Role of Genebanks in the Network of Crop Diversity Actors

International audienceThis paper rethinks the governance of genebanks in a social and political context that has significantly evolved since their establishment. The theoretical basis for the paper is the commons conceptual framework in relation to both seed and plant genetic resources. This framework is applied to question the current policy ecosystem of genetic research and breeding and explore different collective governance models. The concept of crop diversity management system (CDMS) commons is proposed as the new foundation for a more holistic and inclusive framework for crop diversity management, that covers a broad range of concerns and requires different actors. The paper presents a multi-stakeholder process established within the context of the two recent projects CoEx and Dynaversity, imagining possible collective arrangements to overcome existing deadlocks, foster collective learning, and design collaborative relationships among genebanks, researchers, and farmers’ civil society organizations involved in crop diversity management

Communities of Practice in Crop Diversity Management: From Data to Collaborative Governance

International audienceAbstract Establishing linkage among data of diverse domains (e.g. biological, environmental, socio-economical, and geographical) is critical to address complex multidimensional issues such as food security or sustainable agriculture. The complexity of this challenge increases with the level of heterogeneity of the data but also with the social context of production of datasets, a dimension usually less considered. Building on the experience of a transdisciplinary project on the diversity of crop diversity management systems in West Africa (CoEx), this chapter reflects on the importance to better account for agency for more meaningful, responsible and efficient plant data linkage. The chapter addresses sequentially the cognitive and political challenges related to data work and the way they could be addressed simultaneously within the same social unit. To do this, we rely on the concept of community of practice (CoP) which gained enormous popularity in relation to data and knowledge management. More than simply a social mechanism for community knowledge management, we show in this contribution that CoP needs to be approached as a social experiment and a terrain of collective situated learning in order to address each challenge and their linkages with respect to data work

Pathogenic alterations in PIK3CA and KMT2C are frequent and independent prognostic factors in anal squamous cell carcinoma treated with salvage abdominoperineal resection

International audienceThe management of anal squamous cell carcinoma (ASCC) has yet to experience the transformative impact of precision medicine. Conducting genomic analyses may uncover novel prognostic biomarkers and offer potential directions for the development of targeted therapies. To that end, we assessed the prognostic and theragnostic implications of pathogenic variants identified in 571 cancer-related genes from surgical samples collected from a homogeneous, multicentric French cohort of 158 ASCC patients who underwent abdominoperineal resection treatment. Alterations in PI3K/AKT/mTOR, chromatin remodeling, and Notch pathways were frequent in HPV-positive tumors, while HPV-negative tumors often harbored variants in cell cycle regulation and genome integrity maintenance genes (e.g., frequent TP53 and TERT promoter mutations). In patients with HPV-positive tumors, KMT2C and PIK3CA exon 9/20 pathogenic variants were associated with worse overall survival in multivariate analysis (Hazard ratio (HR)KMT2C = 2.54, 95%CI = [1.25,5.17], P value = .010; HRPIK3CA = 2.43, 95%CI = [1.3,4.56], P value = .006). Alterations with theragnostic value in another cancer type was detected in 43% of patients. These results suggest that PIK3CA and KMT2C pathogenic variants are independent prognostic factors in patients with ASCC with HPV-positive tumors treated by abdominoperineal resection. And, importantly, the high prevalence of alterations bearing potential theragnostic value strongly supports the use of genomic profiling to allow patient enrollment in precision medicine clinical trials

Dites-le avec des fleurs

Comment l’anthropologie construit-elle ses objets lorsque ceux-ci, comme la fleur, sont investis de représentations plus qu’ils n’en sont le support ? Lorsqu’ils sont des productions sociales originales dans lesquelles s’enchevêtrent des enjeux autant territoriaux, politiques, identitaires qu’idéologiques ou symboliques ? La fleur, appréhendée ici comme un révélateur d’une diversité d’approches, invite non seulement à une plongée au cœur de problématiques associées à l’environnement, mais surtout elle offre un bouquet de développements anthropologiques contemporains, où se reflète autant la vitalité de la discipline que la fécondité de démarches interdisciplinaires. L’apport décisif de l’anthropologie tient in fine dans sa faculté de re-totaliser son objet dans des univers de sens articulés