L'épigénétique, moteur de l'évolution d'un vertébré asexué

L’objectif de cette thèse est de déterminer l’étendue de la variabilité épigénétique, plus particulièrement du polymorphisme de méthylation de l’ADN, non liée à la variabilité génétique dans les populations asexuées en milieu naturel. Cette évaluation nous a permis de mieux cerner l’importance que peuvent avoir les processus épigénétiques en écologie et en évolution. Le modèle biologique utilisé est l’hybride clonal du complexe gynogénétique Chrosomus eos-neogaeus. Malgré une homogénéité génétique, une importante variabilité phénotypique est observée entre les hybrides d’une même lignée clonale mais retrouvés dans des environnements différents. L’influence des processus épigénétiques apporte une explication sur ce paradoxe. L’épigénétique se définit comme une modification de l’expression des gènes sans changement de la séquence d’ADN. La diversité des phénotypes peut entre autre s’expliquer par des patrons de méthylation différentiels des gènes et/ou des allèles des gènes entre les hybrides génétiquement identiques. La diversité des lignées épiclonales peut quant à elle s’expliquer par la colonisation de plusieurs lignées épiclonales, s’établir en réponse à l’environnement ou de façon aléatoire. Plusieurs méthodes seront utilisées afin de survoler le génome des hybrides clonaux pour mettre en évidence le polymorphisme de méthylation de l’ADN à l’échelle de l’individu et entre les individus de différentes populations.The aim of the thesis is to determine the extent of epigenetic variation, more specifically DNA methylation polymorphism, not linked to genetic variation in natural populations of an asexual vertebrate. This evaluation enables to better understand the importance that plays epigenetics processes in ecology and evolution. The biological model used is the clonal hybrid of the gynogenetic Chrosomus eos-neogaeus complex. Even in absence of genetic difference, an important phenotypic variability is observed among hybrids of the same clonal lineage living in different environments. Epigenetics, a modification of genes expression without a change at the DNA sequence, provides an explanation to this paradox. The diversity of phenotypes may be explained by differential methylation patterns of genes and/or alleles among genetically identical hybrids. The diversity of epiclonal lineages may be explained by the colonisation of many epiclonal lineages, established in response to the environment or stochastically. Many methods were used for screening the genome of clonal hybrids in order to highlight DNA methylation polymophism at the scale of an individual and among individuals of different populations

Fidélité au site comme mécanisme d'isolement reproducteur entre les membres sexués et asexués et entre les populations sympatriques du complexe Phoxinus eos-neogaeus

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal

Altérations structurales et dynamiques des artères pulmonaires secondaires aux conditions respiratoires chez le chat domestique

Chez l’humain et le chien, certaines atteintes respiratoires peuvent mener à une augmentation de la pression artérielle pulmonaire (PAP) et à un remodelage des artères pulmonaires. Chez le chat domestique, de telles conséquences n’ont que rarement été rapportées. Dans ce mémoire de maîtrise, nous avons étudié l’impact des atteintes respiratoires sur l’hémodynamie et la structure des vaisseaux artériels pulmonaires chez felis catus domestica à l’aide de deux approches méthodologiques. La première s’intéressait au temps d’intervalles systoliques (STIs) mesurés à l’échocardiographie et leur corrélation avec l’estimation de la PAP. Dix-sept autres paramètres échocardiographiques chez 10 chats atteints de maladies respiratoires chroniques ont été comparés à ceux de 16 chats sains. Aucune différence significative n’a été démontrée entre les deux groupes pour l’ensemble des paramètres. Les STIs n’étaient pas corrélés à l’estimation de la PAP, limitant leur potentiel prédictif d’hypertension pulmonaire chez le chat. La deuxième approche visait à déterminer histologiquement l’incidence des désordres bronchiolaires (BD) sur le remodelage artériel pulmonaire, à l’aide de tissus pulmonaires provenant de 13 chats atteints à ceux de 13 chats témoins. La proportion de la paroi artérielle occupée par l’adventice était significativement plus élevée chez les chats BD que celle du groupe contrôle, chez qui l’intima et la média était significativement plus proéminente chez les artères de petit et moyen calibre, respectivement. Cet effet opposé s’est soldé par une épaisseur pariétale totale comparable entre les deux groupes. D’autres études seront nécessaires pour comprendre les mécanismes physiologiques sous-jacents aux changements histologiques observés lors de BD.In humans and dogs, respiratory disorders can lead to increased pulmonary arterial pressure (PAP) and a remodeling of the pulmonary arteries. In domestic cats, such consequences have rarely been reported. In this master's thesis, we studied the impact of respiratory diseases on pulmonary hemodynamics and on pulmonary arterial morphometry in felis catus domestica using two methodological approaches Our first study focused on systolic time intervals (STIs) and their correlation with estimated PAP, upon which 17 other echocardiographic parameters were compared between 10 cats with chronic respiratory diseases and 16 healthy cats. No significant differences were observed between the two groups for any of the parameters that were measured. STIs did not correlate with estimated PAP, limiting their predictive potential of pulmonary hypertension in cats. The second study’s aim was to determine the histological impact of bronchiolar disorders (BD) on the remodeling of pulmonary arteries using pulmonary tissues from 13 affected cats compared to those of 13 control cats. The proportion of the arterial wall occupied by the adventitia was significantly higher in cats in with BD than that of the control group, of which the intima and media were significantly more prominent in small and medium caliber arteries, respectively. This opposite effect resulted in a comparably similar wall thickness between the two groups. Further studies will be needed to understand the physiological mechanisms underlying the histological changes observed in cats with BD

Dissecting maternal care : Patterns of maternal parenting in a prospective cohort study

Parental care has a strong impact on neurodevelopment and mental health in the offspring. While a multitude of animal studies has revealed that the parental brain is a highly complex system involving many brain structures and neuroendocrine systems, human maternal parenting as a multi-dimensional construct with cognitive, emotional, and behavioral components has not been characterized comprehensively.This unique multi-method analysis aimed to examine patterns of self-reported and observed parenting from 6 to 60 months postpartum in a cohort of 496 mothers (maternal age: M = 32 years). Self-report questionnaires assessed motivational components of mothering, parenting stress, parenting-related mood, maternal investment, maternal parenting style, mother-child relationship satisfaction, and mother-child bonding at multiple time points. Observed parenting variables included the Ainsworth Sensitivity Scales at 6 and 18 months, the Behavioral Evaluation Strategies Taxonomies (BEST) at 6 months, an Etch-A-Sketch cooperation task (EAS) at 48 months and the Parent-Child Early Relationship Assessment (PCERA) at 60 months. To examine whether different latent constructs underlie these measures of maternal parenting, we conducted an exploratory factor analysis.Self-report measures of parenting correlated only weakly with behavioral observations. Factor analysis on a subsample (n = 197) revealed four latent factors that each explained 7 to 11% of the variance in the data (32% total variance explained). Based on the loadings of the instruments, the factors were interpreted as follows: Supportive Parenting, Self-Enjoyment Parenting, Overwhelmed Parenting, and Affectionate Parenting. These factor scores showed specific associations with maternal education and depressive symptoms, and with child outcomes, including maternally reported internalizing and externalizing behavioral problems, school readiness, and child-reported symptoms of mental health.These findings parallel the complexity of the parental brain, suggesting that maternal parenting consists of multiple components, each of which is associated with different maternal characteristics and child outcomes.publishe

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Joubert syndrome (JBTS) is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities. Although JBTS was first described more than 40 years ago in French Canadian siblings, the causal mutations have not yet been identified in this family nor in most French Canadian individuals subsequently described. We ascertained a cluster of 16 JBTS-affected individuals from 11 families living in the Lower St. Lawrence region. SNP genotyping excluded the presence of a common homozygous mutation that would explain the clustering of these individuals. Exome sequencing performed on 15 subjects showed that nine affected individuals from seven families (including the original JBTS family) carried rare compound-heterozygous mutations in C5ORF42. Two missense variants (c.4006C>T [p.Arg1336Trp] and c.4690G>A [p.Ala1564Thr]) and a splicing mutation (c.7400+1G>A), which causes exon skipping, were found in multiple subjects that were not known to be related, whereas three other truncating mutations (c.6407del [p.Pro2136Hisfs∗31], c.4804C>T [p.Arg1602∗], and c.7477C>T [p.Arg2493∗]) were identified in single individuals. None of the unaffected first-degree relatives were compound heterozygous for these mutations. Moreover, none of the six putative mutations were detected among 477 French Canadian controls. Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS

Nunataryuk field campaigns: Understanding the origin and fate of terrestrial organic matter in the coastal waters of the Mackenzie Delta region

International audienceAbstract. Climate warming and related drivers of soil thermal change in the Arctic are expected to modify the distribution and dynamics of carbon contained in perennially frozen grounds. Thawing of permafrost in the Mackenzie Delta region of northwestern Canada, coupled with increases in river discharge and coastal erosion, trigger the release of terrestrial organic matter (OMt) from the largest Arctic drainage basin in North America into the Arctic Ocean. While this process is ongoing, well-established, and its rate is accelerating, the fate of the newly-mobilized organic matter, as it transits from the watershed through the delta and into the marine system, remains poorly understood. In the framework of the European Horizon 2020 Nunataryuk programme, and as part of the Work Package 4 (WP4) Coastal Waters theme, four field expeditions were conducted in the Mackenzie Delta region and southern Beaufort Sea from April to September 2019. The temporal sampling design allowed the survey of ambient conditions in the coastal waters under full ice cover prior to the spring freshet, during ice break-up in summer, as well as anterior to the freeze-up period in fall. To capture the fluvial-marine transition zone, and with distinct challenges related to shallow waters and changing seasonal and meteorological conditions, the field sampling was conducted in close partnership with members of the communities of Aklavik, Inuvik and Tuktoyaktuk, using several platforms: helicopters, snowmobiles and small boats. Water column profiles of physical and optical variables were measured in situ, while surface water, groundwater and sediment samples were collected and preserved for the determination of the composition and sources of OMt, including particulate and dissolved organic carbon (POC, DOC), and chromophoric dissolved organic matter (CDOM), as well as a suite of physical, chemical and biological variables. Here we present an overview of the standardized datasets, including hydrographic profiles, remote sensing reflectance, temperature and salinity, particle absorption, nutrients, dissolved organic carbon, particulate organic carbon, particulate organic nitrogen, colored dissolved organic matter absorption, fluorescent dissolved organic matter intensity, suspended particulate matter, total particulate carbon, total particulate nitrogen, stable water isotopes, radon in water, bacterial abundance, and a string of phytoplankton pigments including total chlorophyll. Datasets and related metadata can be found in Juhls et al. 2021. https://doi.pangaea.de/10.1594/PANGAEA.937587

Trichodesmium and other planktonic cyanobacteria in New Caledonian waters (SW tropical Pacific) during an El Niño episode

Abstract. Climate warming and related drivers of soil thermal change in the Arctic are expected to modify the distribution and dynamics of carbon contained in perennially frozen grounds. Thawing of permafrost in the Mackenzie Delta region of northwestern Canada, coupled with increases in river discharge and coastal erosion, trigger the release of terrestrial organic matter (OMt) from the largest Arctic drainage basin in North America into the Arctic Ocean. While this process is ongoing, well-established, and its rate is accelerating, the fate of the newly-mobilized organic matter, as it transits from the watershed through the delta and into the marine system, remains poorly understood. In the framework of the European Horizon 2020 Nunataryuk programme, and as part of the Work Package 4 (WP4) Coastal Waters theme, four field expeditions were conducted in the Mackenzie Delta region and southern Beaufort Sea from April to September 2019. The temporal sampling design allowed the survey of ambient conditions in the coastal waters under full ice cover prior to the spring freshet, during ice break-up in summer, as well as anterior to the freeze-up period in fall. To capture the fluvial-marine transition zone, and with distinct challenges related to shallow waters and changing seasonal and meteorological conditions, the field sampling was conducted in close partnership with members of the communities of Aklavik, Inuvik and Tuktoyaktuk, using several platforms: helicopters, snowmobiles and small boats. Water column profiles of physical and optical variables were measured in situ, while surface water, groundwater and sediment samples were collected and preserved for the determination of the composition and sources of OMt, including particulate and dissolved organic carbon (POC, DOC), and chromophoric dissolved organic matter (CDOM), as well as a suite of physical, chemical and biological variables. Here we present an overview of the standardized datasets, including hydrographic profiles, remote sensing reflectance, temperature and salinity, particle absorption, nutrients, dissolved organic carbon, particulate organic carbon, particulate organic nitrogen, colored dissolved organic matter absorption, fluorescent dissolved organic matter intensity, suspended particulate matter, total particulate carbon, total particulate nitrogen, stable water isotopes, radon in water, bacterial abundance, and a string of phytoplankton pigments including total chlorophyll. Datasets and related metadata can be found in Juhls et al. 2021. https://doi.pangaea.de/10.1594/PANGAEA.937587