Dissertations / Theses on the topic 'Parental genome'
To see the other types of publications on this topic, follow the link: Parental genome.
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 47 dissertations / theses for your research on the topic 'Parental genome.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.
1
Ajjan, Sophie. "Formes atypiques d'empreinte génomique : transitoire, tissu-spécifique et lignée-spécifique." Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066251/document.
Full textAbstract:
Les gènes soumis à empreinte (GSE) se distinguent du reste du génome par une expression mono-allélique et parent-spécifique. Cette forme de régulation génique dépend de marques de méthylation différentielles héritées des gamètes parentaux au niveau de régions cis-régulatrices appelées ICR (« Imprinting Control Region »). Une centaine de GSE contrôlés par 20 ICR ont été répertoriés chez la souris et sont en général conservés chez l’Homme. Mon projet de thèse a consisté à caractériser de nouvelles ICR maternelles et à analyser leur impact sur la régulation génique, à partir d’un criblage génomique de méthylation réalisé chez la souris. J’ai ainsi participé à la révélation de l’existence de trois formes d’empreinte, qui résultent de sensibilité différente des ICR face aux changements développementaux des profils de méthylation génomique: 1) une empreinte persistante tout au long de la vie et ubiquitaire, qui caractérise les ICR classiques déjà connues, 2) transitoire, avec une existence limitée au développement pré-implantatoire, et 3) persistante tout au long de la vie mais tissu-spécifique. Plus précisément, j’ai déterminé les profils d’histones associées aux ICR des loci Cdh15 et Gpr1/Zdbf2, et mis en évidence la conservation de l’empreinte transitoire au locus GPR1/ZDBF2 chez l’humain. Je me suis ensuite focalisée sur l’ICR candidate associée au gène Socs5, dont l’empreinte s’est avérée être tissu-spécifique mais également, de façon inédite, polymorphique en fonction des lignées de souris. Cette ICR en position intragénique présente les caractéristiques d’une séquence « enhancer », hypothèse que je teste actuellement par invalidation fonctionnelle (système CRISPR/Cas9) chez la souris. La découverte de ces formes atypiques d’empreinte génomique permet de mieux cerner l’étendue du phénomène d’empreinte parentale et d’évaluer son impact sur les phénotypesGenomic imprinting refers to the functional non-equivalence of the two parental genomes in mammals. Imprinted genes are expressed only from the paternal or maternal allele: this mono-allelic expression is regulated by parent-inherited DNA methylation of specific cis-regulatory regions called ICRs (Imprinting Control Regions). There are currently around 120 imprinted genes known in the mouse genome, which are under the control of 20 characterized ICRs, and are generally conserved in Human. My thesis project aimed at characterizing new maternal ICRs and at analyzing their impact on gene regulation, based on a genome-wide methylation screen conducted in the mouse. I participated to revealing the existence of three forms of genomic imprinting, which reflects variable susceptibility to developmentally-regulated DNA methylation changes: 1) ubiquitous and life-long imprinting, which refers to the 20 canonical ICRs, 2) transient, whose existence is limited to preimplantation development, and 3) tissue-specific. More specifically, I deciphered the histone modification profiles of two new maternal ICR associated with the Cdh15 and the Gpr1/Zdbf2 loci and confirmed that the GPR1/ZDBF2 locus is also subject to transient imprinting in Human. My main achievement concerns the characterization of a candidate ICR associated with the Socs5 gene, which I found to be tissue-specific but also strain-specific, pointing towards a new form of imprinting polymorphism. This ICR has an intragenic position and has the characteristics of an enhancer, hypothesis that I am functionally testing in vivo by a CRISPR/Cas9-mediated deletion. The discovery of these new forms of genomic imprinting provides a better understanding of this phenomenon and its impact on phenotypes
2
Li, Karen Christine. "Supporting decision-making in whole genome/exome sequencing : parents' perspectives." Thesis, University of British Columbia, 2014. http://hdl.handle.net/2429/50835.
Full textAbstract:
Whole genome sequencing/exome sequencing (WGS/ES) technology is becoming more affordable and accessible, and will become more frequently used in various clinical settings, including for diagnosing rare childhood diseases. However, its use means that parents face decisions that could uncover life-altering information, unrelated to their child’s illness that may also have personal and ethical implications for their families. The purpose of this study is to explore and describe parents’ perceptions of their decisional needs when deciding on WGS/ES for their child.
The qualitative methodological approach known as Interpretive Description, the concept of shared decision-making and the Ottawa Decision Support Framework were used to inform and guide this study. Parents of children who had previously undergone WGS/ES informed consent were invited to participate in a focus group or individual in-person or telephone interviews. Parents had children with a range of undiagnosed conditions suspected to be genetic in origin. 15 parents were interviewed and transcriptions were analyzed concurrently and iteratively. Repeat interviews were conducted with 5 of the parents to confirm, challenge or expand on the developing conceptualizations.
Participants felt that their decision to proceed with WGS/ES for their child was easy. However, they expressed many unresolved decisional needs including: a lack of knowledge about certain topics that became relevant and important to them later, unmet expectations, and a need for more support and resources. Participants also acknowledged that the high volume of information and urgency of their circumstances may have caused them to be less receptive (or even unreceptive) to information during their WGS/ES decision-making (DM) process. Additionally, participants had ongoing informational and psychosocial needs beyond the single clinical encounter where their WGS/ES DM occurred. The content and amount of information that participants considered to be important varied.
Prior to the widespread use of clinical WGS/ES, parents’ perspectives about their decisional needs should be considered in order to implement parent-tailored education, counselling, decision support and informed consent processes.Applied Science, Faculty of
Nursing, School of
Graduate
3
McLeod, Donald Angus. "Comparison of the RNA genomes of persistent and parental strains of human coronavirus 229E." Thesis, University of Ottawa (Canada), 1985. http://hdl.handle.net/10393/4791.
Full text
4
Diedericks, Angelique. "Parental Perspectives Regarding the Return of Genomic Findings in NeuroDevelopmental Disorders – A South African Study." Master's thesis, Faculty of Health Sciences, 2020. http://hdl.handle.net/11427/32233.
Full textAbstract:
Introduction: There is a lack of policies and research regarding the disclosure of results in genomic research, especially in South Africa. Challenges remain regarding the disclosure of genomic research results to research participants and their families, which may partly be addressed by considering parental and participants' preferences. This study serves as a sub-study to the NeuroDev study which is performing genotyping and exome sequencing on children with NeuroDevelopmental disorders in the Western Cape; and will investigate a feedback of findings method pertaining to the needs and preferences of the patient community. Aims: To investigate parents' understanding of the genomic research study they are participating in as well as their preferences regarding the feedback process and anticipated contributions of significant genetic findings generated by the NeuroDev study. This study further hopes to inform a tailored feedback policy reflecting the needs of this South African population. Research Design: A pragmatic qualitative approach was used by conducting 12 semi-structured interviews with 17 parents of children participating in the NeuroDev study. Purposive sampling was used, selecting retrospectively from patients recruited for the NeuroDev study in which findings of de novo, significant mutations are more likely expected. Interviews were conducted in English, in a private setting at Red Cross War Memorial Children's Hospital (RCWMCH), and were audio-recorded by the researcher; observations and field notes were documented. Generated data was analyzed using thematic analysis to generate themes and transcripts were imported into NVivo 12 to assist with managing and organizing the data for analysis. Ethical approval was been obtained from the University of Cape Town (UCT) (HREC 784/2018). Results: Empiric data collection ran from May to July 2019 and preliminary data was presented at the NeuroDev AGM and on a poster at the SASHG conference, RCWMCH research open day and UCT postgraduate research day. Findings were that the parents of the participants understood the study they were participating in as well as basic concepts of genetics, however, parental understanding over the cause of their child's condition remains a source of confusion when pertaining to their understanding of genetics being ‘passed down the family lineage' and how that integrates with de novo mutations. Furthermore, there is potential for it to impact on feelings of guilt. Parents have a need for information, discovering the cause of their child's condition and to be involved in the research process with full disclosure as events unfold. Altruism seems to be a major motivator for participating in genomics research but personal and family benefit also served to be a key driver in that research results could potentially provide awareness and information regarding their child's condition, the management thereof and recurrence risk in future. Participants in this study want pertinent research results which could offer closure, acceptance and relief, however, differences over the meaning of such results were observed between those whose child already had a diagnosis versus those whose child remained undiagnosed. Furthermore, receiving non-pertinent and negative result was still perceived to be meaningful for some. Further diversity was observed in parental preferences for the explanation of preliminary results. Discussion: Given that non-pertinent results still hold value for participants, consideration should be given as to more extensive ways of communicating this if such results are not to be returned since results are generally viewed as a point of access to information or relating to their child's condition. Diverse preferences regarding when and what participants want to know for results feedback needs to be addressed in order to facilitate a guidance framework for the delivery of genomic research results and can perhaps take the form of a tiered-consent model for feedback of incidental findings. As such, genetic counsellors may have a valuable role to play in facilitating participant satisfaction and bridging the gap between researchers and public expectations. Ethical considerations: Consent was taken before commencement of the study. There were no risks with regards to participating in this study and participants had the freedom to withdraw at any time and at their own discretion.
5
Rieusset, Anne. "Caractérisation de la plasticité épigénétique du gène Necdin/NECDIN impliqué dans le syndrome de Prader-Willi et de ses conséquences fonctionnelles sur le phenotype." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM4039.
Full textAbstract:
Le syndrome de Prader-Willi est une maladie génétique rare. Les gènes candidats au SPW, dont le gène Necdin, sont régulés par l'empreinte génomique parentale : seul l'allèle paternel de ces gènes est exprimé, l'allèle maternel étant silencieux. Notre équipe a généré un modèle murin pour lequel l'allèle paternel de Necdin a été désactivé (+m/-p) et qui présente des similarités phénotypiques avec les patients PW. Ce phénotype est plus drastique chez les animaux -/-. Nous avons alors émis l'hypothèse que l'allèle maternel puisse avoir un rôle fonctionnel dans la survie des souris (+m/-p). L'expression de l'allèle maternel de Necdin est présente dans le système nerveux des souris (+m/-p). Cette expression, bien que faible au niveau transcriptionnel, est suffisante pour produire la protéine Necdin, ce qui a des conséquences cellulaires et physiologiques qui in fine permettent une amélioration du phénotype. Cette perte de silence de l'allèle maternel est également détectée dans l'hypothalamus de patients PW. Ces résultats révèlent une plasticité épigénétique inattendue qui permet d'envisager des perspectives thérapeutiquesThe Prader-Willi Syndrome (PWS) is a rare genetic disorder. Several genes, including NECDIN gene, are involved in the PWS. These genes are regulated by the genomic imprinting mechanism: only the paternal allele of these genes is expressed, their maternal allele being silenced. Our team has generated a mouse model in which the paternal allele of the Necdin gene has been deactivated (+m/-p). This model presents phenotypical similarities with PWS patients. We observed that mortality affects more -/- pups than +m/-p mice. Therefore we venture the hypothesis of a functional role of the maternal allele in mutant mice survival. We showed an expression of this allele in the nervous system of +m/-p mice. Though transcriptionnally low, that is sufficient to produce the Necdin protein and provoke cellular as well as physiological consequences that actively improve the phenotype. Importantly, a specific expression of the maternal NECDIN allele is also detected in hypothalamic brain sections of PWS patients. These results reveal an unexpected epigenetic flexibility that allow to contemplate a therapeutic pharmacological prospect
6
Idleburg, Michaela. "Assessment of a Video on Genome Testing Expectations and Results: Parent and Adolescent Views and Understanding." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525171341700198.
Full text
7
Rashkin, Misha Dmitry Shepard. "Attitudes toward Whole Genome Sequencing among Parents of Children with Autism Spectrum Disorder| A Qualitative Interview Study." Thesis, Icahn School of Medicine at Mount Sinai, 2013. http://pqdtopen.proquest.com/#viewpdf?dispub=1537181.
Full textAbstract:
Background: Whole genome sequencing (WGS) is increasingly used for research and clinical purposes. This study explored attitudes of parents of children with a suspected autism spectrum disorder (ASD) toward WGS. Methods: A topic guide informed by the Theory of Planned Behavior was developed covering perceived benefits, concerns, barriers, and facilitators regarding WGS. Participants also summarized likely major factors in their decision. Interviews were audio-recorded, transcribed and analyzed for themes using framework analysis. Results: Participants (n=10) were generally in favor of WGS. The most recurring themes were: helping their affected child; concerns that secondary findings could be emotionally overwhelming; facilitators relating to access, e.g. living near a major medical center. When summarizing, money/insurance issues were most raised; this was also the most recurring barrier. Conclusion: Parents of children with ASD were enthusiastic but also expressed concerns about WGS. These findings will be useful to future research with this and other populations.
8
Hore, Timothy Alexander, and timothy hore@anu edu au. "THE EVOLUTION OF GENOMIC IMPRINTING AND X CHROMOSOME INACTIVATION IN MAMMALS." The Australian National University. Research School of Biological Sciences, 2008. http://thesis.anu.edu.au./public/adt-ANU20081216.152553.
Full textAbstract:
Genomic imprinting is responsible for monoallelic gene expression that depends on the sex of the parent from which the alleles (one active, one silent) were inherited. X-chromosome inactivation is also a form of monoallelic gene expression. One of the two X chromosomes is transcriptionally silenced in the somatic cells of females, effectively equalising gene dosage with males who have only one X chromosome that is not complemented by a gene poor Y chromosome. X chromosome inactivation is random in eutherian mammals, but imprinted in marsupials, and in the extraembryonic membranes of some placentals. Imprinting and X inactivation have been studied in great detail in placental mammals (particularly humans and mice), and appear to occur also in marsupial mammals. However, both phenomena appear to have evolved specifically in mammals, since there is no evidence of imprinting or X inactivation in non-mammalian vertebrates, which do not show parent of origin effects and possess different sex chromosomes and dosage compensation mechanisms to mammals.¶
In order to understand how imprinting and X inactivation evolved, I have focused on the mammals most distantly related to human and mouse. I compared the sequence, location and expression of genes from major imprinted domains, and genes that regulate genomic imprinting and X-chromosome inactivation in the three extant mammalian groups and other vertebrates. Specifically, I studied the evolution of an autosomal region that is imprinted in humans and mouse, the evolution of the X-linked region thought to control X inactivation, and the evolution of the genes thought to establish and control differential expression of various imprinted loci. This thesis is presented as a collection of research papers that examines each of these topics, and a review and discussion that synthesizes my findings.¶
The first paper reports a study of the imprinted locus responsible for the human Prader-Willi and Angelman syndromes (PWS and AS). A search for kangaroo and platypus orthologues of PWS-AS genes identified only the putative AS gene UBE3A, and showed it was in a completely different genomic context to that of humans and mice. The only PWS gene found in marsupials (SNRPN) was located in tandem with its ancient paralogue SNRPB, on a different chromosome to UBE3A. Monotremes apparently have no orthologue of SNRPN. The several intronless genes of the PWS-AS domain also have no orthologues in marsupials or monotremes or non-mammal vertebrates, but all have close paralogues scattered about the genome from which they evidently retrotransposed. UBE3A in marsupials and monotremes, and SNRPN in marsupials were found to be expressed from both alleles, so are not imprinted. Thus, the PWA-AS imprinted domain was assembled from many non-imprinted components relatively recently, demonstrating that the evolution of imprinting has been an ongoing process during mammalian radiation.¶
In the second paper, I examine the evolution of the X-inactivation centre, the key regulatory region responsible for X-chromosome inactivation in humans and mice, which is imprinted in mouse extraembryonic membranes. By sequencing and aligning flanking regions across the three mammal groups and non-mammal vertebrates, I discovered that the region homologous to the X-inactivation centre, though intact in birds and frogs, was disrupted independently in marsupial and monotreme mammals. I showed that the key regulatory RNA of this locus (X-inactive specific transcript or XIST) is absent, explaining why a decade-long search for marsupial XIST was unsuccessful. Thus, XIST is eutherian-specific and is therefore not a basic requirement for X-chromosome inactivation in all mammals.¶
The broader significance of the findings reported in these two papers is explored with respect to other current work regarding the evolution and construction of imprinted loci in mammals in the form of a review. This comparison enabled me to conclude that like the PWS-AS domain and the X-inactivation centre, many domains show unexpected construction from disparate genomic elements that correlate with their acquisition of imprinting.¶
The fourth and last paper examines the evolution of CCCTC-binding Factor (CTCF) and its parologue Brother Of Regulator of Imprinted Sites (BORIS) which contribute to the establishment and interpretation of genomic imprinting at the Insulin-Like Growth Factor 2/H19 locus. In this paper I show that the duplication of CTCF giving rise to BORIS occurred much earlier than previously recognised, and demonstrate that a major change in BORIS expression (restriction to the germline) occurred in concert with the evolution of genomic imprinting. The papers that form the bulk of this thesis show that the evolution of epigenetic traits such as genomic imprinting and X-chromosome inactivation is labile and has apparently responded rapidly to different selective pressures during the independent evolution of the three mammal groups. I have introduced these papers, and discussed them generally in terms of current theories of how and why these forms of monoallelic expression have evolved in mammals.
9
Andersson, Sandra, and Julia Salomonsson. "Ungas perspektiv på föräldraskap och ursprung : Reflektioner från unga vuxna tillkomna genom könscellsdonation och/eller uppvuxna i regnbågsfamiljer." Thesis, Linköpings universitet, Psykologi, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-150160.
Full textAbstract:
Denna examensuppsats har ämnat undersöka ungdomars och unga vuxnas perspektiv på och upplevelser av föräldraskap och genetiskt ursprung samt aktuell föräldralagstiftning. Examensuppsatsen ämnar vidare utgöra underlag för en rapport som beaktas i en statlig utredning som handlar om att se över aktuella regler kring fastställande av rättsligt föräldraskap. Genom semistrukturerade intervjuer med tio unga vuxna i åldern 17 till 32 år har data samlats in och analyserats med tematisk analys. I resultaten fann vi att deltagarnas sätt definiera och tala om föräldraskap är i linje med tidigare forskning. Även internationell forskning kring synen på könscellsdonatorer och deras roll som föräldrar eller icke-föräldrar har kunnat appliceras på vårt intervjumaterial för att förstå donatorsrollen som infallande på ett kontinuum. Nya fynd som framkommit är att avsaknad av rättsliga band ej utgör ett oöverkomligt hinder för utövandet av socialt föräldraskap, både i avseende på att skaffa barn och sedermera uppfostra det. Deltagarna berättar dock att avsaknad av rättsligt föräldraskap har varit problematiskt vid dödsfall och separationer. Funderingar kring genetiskt ursprung och tillkomst beskrivs påbörjas i tidig ålder hos deltagarna och vara avslutat i tidig vuxen ålder, vilket är ett nytt fynd och går emot lagstiftad ålder för kännedom om donator och genetiskt ursprung. Möjlighet till kännedomen om genetiskt ursprung lyfts som barnets okränkbara rättighet. Utifrån dessa fynd drar vi slutsatsen att trots lagmässiga hinder kan ett fullständigt föräldraskap i många fall utövas av icke-juridiska föräldrar samt att avsaknad av genetiska band ej utgör en barriär för relationsskapande eller identitetsutveckling. Däremot anses lagstiftning och samhällsattityder fortfarande vara exkluderande och osynliggörande gentemot regnbågsfamiljer och könscellsdonation.Statlig offentlig utredning (Kommittédirektiv 2017:28)
10
Raghuram, Pillai Preethi. "Decisional conflict among adolescents and parents making decisions about genomic results." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1553528736920897.
Full text
11
Zhou, Jiyuan. "Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B4308543X.
Full text
12
FORLANI, SYLVIE. "Utilisation de transgenes pour l'analyse de la mise en activite du genome zygotique et du processus d'impression parentale des genes chez la souris." Paris 6, 1998. http://www.theses.fr/1998PA066125.
Full textAbstract:
Chez la souris, la competence de l'appareil transcriptionnel est etablie dans l'oeuf feconde (embryon 1-cellule), avant la mise en activite de nombreux genes zygotiques en phase g2 dans l'embryon 2-cellules. Ceci suggere que l'inactivite genique generale mise en place a la fin de la gametogenese resulte d'un processus plus complexe que l'inhibition du seul appareil transcriptionnel de base. Au cours de ce travail de these, nous avons cherche a definir quels mecanismes regulateurs d'expression pouvaient etre concernes par le processus d'inactivite genique et potentiellement impliques dans l'activation des genes zygotiques. La capacite de l'oeuf feconde et de l'embryon 2-cellules a effectuer une activite transcriptionnelle regulee a ete examinee en utilisant des transgenes microinjectes comportant le gene lacz et un promoteur minimum sous controle de sequences activatrices d'expression dans les cellules souches embryonnaires, placees en position proche ou a distance du promoteur. Nous montrons que, dans le pronoyau male de l'oeuf feconde bloque, il existe une competence pour l'activation transcriptionnelle proximale mais pas pour l'activation transcriptionnelle a distance. Celle ci apparait pendant la periode allant de la phase g2 du stade 1-cellule a celle du stade 2-cellules sous la dependance de la replication d'adn dans l'oeuf feconde. La comparaison de l'expression de trois transgenes apres microinjection ou a l'etat integre dans le genome de souris transgeniques montre aussi que le genome exerce des effets represseurs sur leur expression dans l'oeuf feconde seul, voire dans l'embryon 2-cellules selon les transgenes, et que ces effets sont leves au stade 2- ou 4-cellules sous la dependance de la replication d'adn au stade precedent respectif. L'absence d'activation transcriptionnelle a distance et un etat non permissif du genome pourraient etre impliques dans l'inactivite genique au debut du developpement. Des differences d'expression ont ete observees selon l'origine parentale des transgenes integres : l'expression des transgenes d'origine maternelle apparait systematiquement a des stades plus tardifs que celle de leurs correspondants d'origine paternelle, mais toujours avant l'implantation. Plusieurs caracteristiques indiquent que l'expression des transgenes est regulee de facon transitoire par une empreinte maternelle durant le developpement qui precede l'implantation. Les implications pour le processus d'impression parentale des genes sont discutees.
13
Ragsdale, Gillian. "Genomic imprinting and human cognition : parent-of-origin effects on behaviour." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611803.
Full text
14
Arnold, Brenda Elaine. "Identification Of Candidate Genes For Self-Compatibility In A Diploid Population Of Potato Derived From Parents Used In Genome Sequencing." Thesis, Virginia Tech, 2013. http://hdl.handle.net/10919/51653.
Full textAbstract:
Gametophytic self-incompatibility limits the ability to derive inbred lines of potato through self-pollination and is prevalent in diploid potato. Within a population of F1 hybrids between two genotypes used in potato genome sequencing, we observed fruit set on many greenhouse-grown plants. Subsequently, after controlled self-pollinations, we confirmed fruit set in 32 of 103 F1 plants. Our goal was to identify genes responsible for self-compatibility in this population and to advance selfed progeny to develop highly homozygous inbred lines. The F1 population was genotyped using a single nucleotide polymorphism (SNP) array. Polymorphic and robust SNPs were analyzed by Fisher\'s Exact Test to identify allelic states segregating with the self-compatible phenotype. Filtering 1966 SNPs to retain only those with p-values less than 0.0001 yielded 95 highly significant SNPs, with all SNPs on anchored scaffolds located on chromosome 12. Candidate genes encoding for multiple notable proteins including an S-protein homologue were identified near highly significant SNPs on the Potato Genome Browser. Seeds obtained after self-pollination of self-compatible individuals were used to advance the population for three generations. SNP chip genotyping of the S3 generation revealed entirely different SNPs segregating for self-compatibility on nine different chromosomes. Comparison of the allelic state of SNPs in the F1 and S3 generations revealed a heterozygosity reduction by 80%, with fixation of many SNPs including those surrounding the S-protein homologue. We conclude that the genes responsible for segregation of self-compatibility in the S3 generation are different from those in the F1 generation.Master of Science
15
Ladejobi, Olufunmilayo Olubukola. "Testing new genetic and genomic approaches for trait mapping and prediction in wheat (Triticum aestivum) and rice (Oryza spp)." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/277449.
Full textAbstract:
Advances in molecular marker technologies have led to the development of high throughput genotyping techniques such as Genotyping by Sequencing (GBS), driving the application of genomics in crop research and breeding. They have also supported the use of novel mapping approaches, including Multi-parent Advanced Generation Inter-Cross (MAGIC) populations which have increased precision in identifying markers to inform plant breeding practices. In the first part of this thesis, a high density physical map derived from GBS was used to identify QTLs controlling key agronomic traits of wheat in a genome-wide association study (GWAS) and to demonstrate the practicability of genomic selection for predicting the trait values. The results from GBS were compared to a previous study conducted on the same association mapping panel using a less dense physical map derived from diversity arrays technology (DArT) markers. GBS detected more QTLs than DArT markers although some of the QTLs were detected by DArT markers alone. Prediction accuracies from the two marker platforms were mostly similar and largely dependent on trait genetic architecture. The second part of this thesis focused on MAGIC populations, which incorporate diversity and novel allelic combinations from several generations of recombination. Pedigrees representing a wild rice MAGIC population were used to model MAGIC populations by simulation to assess the level of recombination and creation of novel haplotypes. The wild rice species are an important reservoir of beneficial genes that have been variously introgressed into rice varieties using bi-parental population approaches. The level of recombination was found to be highly dependent on the number of crosses made and on the resulting population size. Creation of MAGIC populations require adequate planning in order to make sufficient number of crosses that capture optimal haplotype diversity. The third part of the thesis considers models that have been proposed for genomic prediction. The ridge regression best linear unbiased prediction (RR-BLUP) is based on the assumption that all genotyped molecular markers make equal contributions to the variations of a phenotype. Information from underlying candidate molecular markers are however of greater significance and can be used to improve the accuracy of prediction. Here, an existing Differentially Penalized Regression (DiPR) model which uses modifications to a standard RR-BLUP package and allows two or more marker sets from different platforms to be independently weighted was used. The DiPR model performed better than single or combined marker sets for predicting most of the traits both in a MAGIC population and an association mapping panel. Overall the work presented in this thesis shows that while these techniques have great promise, they should be carefully evaluated before introduction into breeding programmes.
16
Al, Adhami Hala. "Identification d’un réseau de gènes soumis à empreinte génomique parentale et son rôle dans le contrôle des transitions entre prolifération, quiescence et différenciation." Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20136.
Full textAbstract:
L'empreinte génomique parentale est un mécanisme de régulation épigénétique conduisant à la répression d'un allèle d'un gène en fonction de son origine parentale. Ce mécanisme affecte un nombre restreint de gènes chez les mammifères métathériens et euthériens. Ces gènes, dits gènes soumis à empreinte (GSE), ont des fonctions moléculaires variées et sans lien apparent. Cependant, deux thèmes reviennent de manière récurrente dans leurs fonctions: le contrôle de la croissance embryonnaire et la tumorigenèse. Ma thèse a consisté à démontrer l'existence d'un lien fonctionnel entre les GSE. Nous montrons que les GSE s'inscrivent dans un même réseau de co-expression transcriptionnelle et qu'ils sont co-régulés dans différentes situations biologiques lors des transitions entre les différents états cellulaires. En effet, une induction coordonnée de la plupart des GSE a lieu lors des sorties du cycle cellulaire, réversibles (quiescence) ou non (différenciation). Les perturbations individuelles de l'expression de plusieurs GSE dans le modèle des pré-adipocytes 3T3-L1 confirment un rôle du réseau des GSE dans le contrôle des transitions entre prolifération, quiescence et différenciation. De plus, l'analyse des gènes bi-alléliques inclus dans le même réseau de co-régulation que les GSE montre un enrichissement en gènes de la matrice extracellulaire. La fonction associée à ce réseau serait donc le contrôle des transitions entre les différents états cellulaires, via le remodelage de la matrice extracellulaire. Pour conclure, outre l'identification d'une fonction commune aux GSE, nos résultats suggèrent un scénario pour le ciblage de ces gènes par l'empreinte génomique parentale au cours de l'évolution des mammifèresGenomic imprinting is an epigenetic mechanism leading to the repression of one allele of a gene, depending on its parental origin. This mechanism affects a small number of genes in metatherian and eutherian mammals. These genes, named imprinted genes (IGs), display various molecular functions and thus seem unrelated. However, their alterations are frequently associated with the control of embryonic growth and tumorigenesis. My PhD project has consisted in demonstrating a functional link between IGs. We show that IGs are frequently co-expressed and belong to a common gene network. They are co-regulated in biological situations corresponding to the transitions between different cellular states. Coordinated induction of most IGs takes place at the outputs of the cell cycle. Loss and gain of function experiments of several IGs in the 3T3-L1 pre-adipocyte model demonstrate a role of the IG network in controlling transitions between cellular states (proliferation, quiescence and differentiation). In addition to IGs, this network also includes bi-allelic genes, with many extracellular matrix genes. Therefore, the function associated with the IG network could be the fine control of transitions between cellular states through a remodeling of the extracellular matrix.To conclude, in addition to the identification of a common cellular function for IGs, our results suggest a possible scenario for the targeting of these genes by parental genomic imprinting during mammalian evolution
17
Bowden, Lucy M. "Analysis of parent-specific gene expression in the mouse using high resolution two-dimensional electrophoresis of proteins." Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.337986.
Full text
18
Zhou, Jiyuan, and 周基元. "Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B4308543X.
Full text
19
Montibus, Bertille. "Régulation et fonction de la chromatine bivalente chez les mammifères : l'emprunte parentale comme modèle." Thesis, Clermont-Ferrand 1, 2016. http://www.theses.fr/2016CLF1MM23.
Full textAbstract:
La différenciation et le développement requièrent une régulation fine de l’expression desgènes, médiée en partie par les modifications épigénétiques. Parmi les modificationsd’histones, la chromatine bivalente, signature chromatinienne atypique associant lesmarques permissive H3K4me2/3 et répressive H3K27me3, est de par sa plasticité, pressentiepour jouer un rôle décisionnel dans l’acquisition d’une identité cellulaire. Pour étudier le rôlede la chromatine bivalente au cours du développement, nous avons choisi d’utiliserl’empreinte parentale. Ce cadre développemental bien caractérisé, conduit à l’expression decertains gènes à partir d’un seul des deux allèles selon son origine parentale. La méthylationdifférentielle de l’ADN d’une région clé, appelée ICR (Imprinting Control Region), bienqu’absolument requise pour l’expression mono-allélique de ces gènes, n’est pas suffisantepour rendre compte de la complexité du profil d’expression de ces gènes suggérantl’implication d’autres mécanismes. Sur 15 ICR méthylés sur l’allèle maternel, nous avonsprécisément mis en évidence que la chromatine bivalente est présente par défaut sur l’allèlenon-méthylé lorsque celui-ci est transcriptionnellement inactif, quel que soit le stadedéveloppemental ou le tissu étudié, participant ainsi à la régulation fine de l’expressiontissu-spécifique à partir de ces régions. Dans leur ensemble, nos données révèlent que lachromatine bivalente joue un rôle moins dynamique que pressentie. Ainsi, au niveau del’empreinte parentale, sa fonction principale serait de protéger l’allèle non-méthylé des ICRcontre l’acquisition de méthylation tout en aidant à le maintenir réprimé dans certainstissus. Nous proposons que la chromatine bivalente joue un rôle similaire sur l’ensemble desîlots CpG du génome, contribuant ainsi à la protection de l’identité cellulaire. Afin decompléter cette première étude, j’ai étudié la régulation de l’expression d’un candidat de larégulation de la dynamique de la chromatine bivalente, l’histone déméthylase pourH3K27me3, JMJD3. Les résultats obtenus suggèrent que l’induction d’expression observéeau cours de la différenciation neurale s’appuie sur une dynamique de la structuretridimensionnelle de la chromatine qui pourrait elle-même être régulée par la transcriptiond’un eARN (enhancer ARN) et l’hydroxyméthylation. Ce modèle souligne un mode derégulation complexe de ce nouvel acteur épigénétique, impliquant des régionsintragéniques, et pourrait notamment permettre de comprendre les mécanismes impliquésdans sa dérégulation dans les cancersFine-tuned regulation of gene expression is required for cell fate determination anddevelopment. Epigenetics modifications are well documented to be instrumental in thisprocess. Among them, bivalent chromatin, an unusual chromatin signature, which associatesthe permissive mark H3K4me2/3 and the repressive mark H3K27me3, is believed to arbitrategene expression during cell commitment. To study its precise role in development, we haveundertaken to study bivalency in the context of genomic imprinting. This well-defineddevelopmental frame is a process restricting expression of some genes to one parental alleleonly. The constitutive differential DNA methylation at the key region called ICR (ImprintingControl Region), is absolutely required but not sufficient to explain the complexity of themono-allelic expression pattern of imprinted genes, indicating that other mechanisms couldbe involved. Specifically, on 15 maternally methylated ICR, we showed that bivalentchromatin is acquired by default on the unmethylated allele of ICR when it istranscriptionally inactive whatever the developmental stage or the tissue studied and thuscontribute to tissue-specific expression from these regions. Altogether, our results revealthat chromatin bivalency is much less dynamic than proposed. In the context of genomicimprinting, it seems to plays more a safeguard function at ICR by protecting theunmethylated allele against DNA methylation acquisition while keeping it silent in a subsetof tissues. To complete this study, I studied the regulation of JMJD3, a histone demethylasefor H3K27me3, candidate to regulate bivalency dynamic. Our results suggest that theinduction of Jmjd3 expression observed during neural differentiation rely on the dynamic ofthe tridimensional architecture at the locus which could be regulated by the transcription ofan eRNA (enhancer RNA) and by hydroxymethylation. This model highlight a complex way ofregulation for this new epigenetics actor, involving intragenic regions and could help tounderstand how Jmjd3 expression is deregulated in a pathological context such as in cancer
20
RIVA, EGIDIO. "Il valore della conciliazione. L'equilibrio lavoro-vita tra scelta e necessità." Doctoral thesis, Università Cattolica del Sacro Cuore, 2007. http://hdl.handle.net/10280/177.
Full textAbstract:
La conciliabilità lavorativa è un nodo complesso del nostro tempo, che fatica ad essere sciolto. Non si tratta di un problema individuale da risolvere a livello personale, quanto piuttosto di una tematica a rilevanza societaria che richiede pertanto un intreccio virtuoso di progettazione politica, intervento legislativo e misure aziendali a supporto.
La questione tuttavia, non si gioca solo a livello istituzionale. Come mostrato dal presente lavoro di ricerca, infatti, lavoratori e le lavoratrici si trovano ad essere, in un quadro di generale incertezza, attori protagonisti di un lento e difficoltoso processo di trasformazione sociale e organizzativa che richiede un consenso unanime ed un accordo trasversale, pena la sua incompiutezza e contraddittorietà. Da qui l'importanza di chiarire e mettere in luce le differenti, e a volte contrapposte, valenze che il tema assume tra i diversi protagonisti del mondo del lavoro e mostrare come le relazioni personali e lavorative, familiari e di coppia, intervengano nella definizione e nell'utilizzo delle misure di conciliazione.Work-life integration is a complicated knot of our society, difficult to be undone. It is not a personal problem to be solved individually; rather it is a social issue and therefore needs a coherent mix of policy, legislation, organizational measures. Anyway the institutional level is not enough. Actually, as this work shows, men and women are the main characters of a slow and tough process of social and organizational change that requires the agreement of all the parties concerned. Thus it is important to make clear the different, and sometimes contrary, meanings of work-life integration among subjects acting in the labour market and to show how family, gender and labour relationships affect the definition and usage of work-life balance benefits.
21
Lillie, Natasha. "Experiences of Adolescents and their Parents after Receiving Genomic Screening Results for the Adolescent." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin162326020995405.
Full text
22
He, Feng, and 贺峰. "Detection of parent-of-origin effects and association in relation to aquantitative trait." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B44921408.
Full text
23
Evano, Brendan. "Identification et caractérisation de la fonction d’un réseau de gènes soumis à empreinte." Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20023/document.
Full textAbstract:
Chez les mammifères, l'empreinte génomique parentale est un mécanisme épigénétique restreignant l'expression d'une centaine de gènes à un seul allèle, déterminé selon son origine parentale. Les gènes affectés et les mécanismes sous-jacents à leur expression mono-allélique sont essentiellement déterminés par une marque épigénétique différentielle portés par les allèles maternel et paternel. D'un point de vue fonctionnel et au niveau physiologique, l'empreinte est actuellement comprise comme un mécanisme contrôlant la quantité de ressources attribuées par la mère à sa progéniture. Les gènes soumis à empreinte s'inscrivent dans un même réseau transcriptionnel (IGN), et plusieurs études indiquent qu'ils contrôleraient l'équilibre entre prolifération et quiescence de cellules souches adultes. A travers cette étude, nous montrons une induction coordonnée de la plupart des gènes soumis à empreinte lors de la sortie du cycle cellulaire, que celle-ci soit réversible (quiescence) ou non (différenciation). De plus, dans un modèle de pré-adipocytes 3T3-L1, la perturbation de la dynamique d'expression de plusieurs de ces gènes semble conforter l'hypothèse d'un contrôle des transitions entre différents états cellulaires (prolifération, quiescence et différenciation) par l'IGN. Outre l'identification d'une fonction cellulaire commune aux gènes soumis à empreinte, nos résultats ouvrent la voie d'une meilleure compréhension des mécanismes de régulation de la quiescence. De plus, nos conclusions permettent de suggérer un nouveau scénario pour la sélection de l'empreinte parentale au cours de l'évolution des mammifèresMammalian genomic imprinting is an epigenetic mechanism that restrains the expression of about a hundred genes to a single allele, in a parent-of-origin specific manner. The identity of imprinted genes and the molecular basis of their monoallelic expression mostly rely on a differential epigenetic marking of the parental alleles. Presently, imprinting is understood as a mechanism aimed at controlling the amount of maternal resources allocated to the offspring. Imprinted genes belong to the same transcriptional network (IGN) and, according to different reports, they seem to control the balance between proliferation and quiescence of adult stem cells. In this study, we show that most imprinted genes are induced upon cell cycle exit, whether reversible (quiescence) or not (differentiation). In addition, within the 3T3-L1 preadipocytes cell line, impairing the dynamics of expression of several imprinted genes impairs the transitions between different cellular states, namely proliferation, quiescence and differentiation. Our results highlight the existence of a common cellular function of imprinted genes, and provide a new frame to understand cellular quiescence, at a molecular level. Furthermore, they suggest a new plausible scenario for the implementation of genomic imprinting during mammalian evolution
24
Patel, Vipul Kumar [Verfasser], George [Gutachter] Coupland, and Achim [Gutachter] Tresch. "Genotyping by sequencing from sparse sequenced genomes representations from bi- and multi- parental mapping population using a HMM approach / Vipul Kumar Patel ; Gutachter: George Coupland, Achim Tresch." Köln : Universitäts- und Stadtbibliothek Köln, 2016. http://d-nb.info/1118687140/34.
Full text
25
Xu, Yongqin. "Studies on parental genomic imprinting of insulin-like growth factor-IImannose 6-phosphate receptor gene in humans : phenomenon, mechanism, and relevance to disease." Thesis, McGill University, 1997. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=37552.
Full text
26
Xu, Yongqin. "Studies on parental genomic imprinting of insulin-like growth factor-II/mannose 6-phosphate receptor gene in humans, phenomenon, mechanism, and relevance to disease." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0019/NQ44633.pdf.
Full text
27
BELLEY, MONTFORT LUCILE. "Utilisation de transgenes pour l'analyse de la permissivite transcriptionnelle des genomes parentaux au cours de la gametogenese et du developpement chez la souris." Paris 11, 1999. http://www.theses.fr/1999PA112256.
Full textAbstract:
Chez les vertebres, la methylation de l'adn genomique sur les dinucleotides cpg a un effet represseur sur l'expression genique. Le genome des mammiferes connait d'importantes variations de son niveau de methylation durant le developpement. L'adn des cellules germinales precoces et des embryons au stade blastocyste est globalement hypomethyle mais celui de l'embryon a l'implantation est hypermethyle. Afin de tester si les variations de la methylation globale du genome peuvent affecter l'expression genique, nous avons etudie le profil d'expression des transgenes lacz, riches et pauvres en cpg, sous le controle d'un promoteur, fort ou faible, de gene ubiquitaire. Nous avons mis en evidence un profil d'expression complexe des genes rapporteurs lacz, riches et pauvres en cpg, durant la gametogenese et durant le developpement. Premierement, les periodes de repression d'expression du gene lacz riche en cpg sont directement correlees aux variations de la methylation globale du genome, quelque soit le promoteur. La reduction du nombre de cpg dans le gene rapporteur diminue fortement sa sensibilite a ces variations lorsqu'il est associe a un promoteur fort, mais pas lorsqu'il est associe a un promoteur faible de gene ubiquitaire. Deuxiemement, une expression sexe-dependante des transgenes, liee a la densite en cpg du gene rapporteur lacz, se manifeste durant l'ovogenese et dans le noyau zygotique avant le stade morula. Nous avons montre que cette repression du gene rapporteur lacz, riche en cpg, peut-etre abolie dans l'embryon 2-cellules par des inhibiteurs d'histones deacetylases suggerant que, au moins a ce stade du developpement, cette repression cpg-dependante agit par la deacetylation des histones. De plus, nous avons montre que l'element de controle de region du locus de la -globine et d'autres elements du genome levent completement la repression installee au moment de l'implantation de l'embryon. L'implication possible des contraintes imposees par la methylation de l'adn dans l'expression genique au cours du developpement et revelees par cette etude est discutee.
28
Cailleau, Aurélie. "Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale." Thesis, Montpellier 2, 2010. http://www.theses.fr/2010MON20242/document.
Full textAbstract:
Chez les plantes à graine, l'albumen est un tissu nourricier surprenant, puisqu'il résulte de la double fécondation, qui est la fécondation concomitante de l'oosphère d'une part, et de la cellule mère de l'albumen, la cellule centrale, d'autre part. Dans cette thèse, nous étudions les pressions de sélection qui déterminent l'évolution de l'albumen et pourraient expliquer l'évolution (1) de la double fécondation, (2) d'un doublement des contributions maternelles dans la cellule centrale, (3) de la polysporie, qui consiste en la participation de plusieurs produits de méiose à la formation du gamétophyte, et (4) de l'empreinte parentale, l'expression différentielle des allèles maternels et paternels.Ces innovations modifient l'hétérozygotie dans le tissu nourricier et par conséquent, ont le potentiel de changer l'hétérosis de la graine. Dans cette thèse, nous commençons par étudier comment les changements génétiques qui découlent de la double fécondation, du doublement des contributions maternelles, de la polysporie et de l'empreinte parentale modifient l'hétérosis, ce qui peut jouer en faveur ou en défaveur de leurs évolutions. Puis, nous faisons une revue des données disponibles dans la littérature pour tester si ces traits sont le résultat d'un conflit mâle-femelle sur l'allocation des ressources. Enfin, nous étudions de manière expérimentale les patrons de l'allocation des ressources chez le maïs, pour tester si les embryons sont en compétition pour les ressources, ce qui est une des conditions nécessaires pour qu'un conflit sur l'allocation des ressources ait lieu.Nos modèles théoriques nous permettent de décrire un conflit mâle-femelle sur l'exposition des allèles délétères dans les tissus pour lesquels l'expression des gènes est asymétrique. Ce conflit n'avait jamais été décrit auparavant, et ouvre de nouvelles perspectives pour la compréhension de l'évolution de l'expression génétique. L'analyse des données indique que les théories alternatives à la théorie du conflit sur l'allocation des ressources ont parfois un bon pouvoir explicatif, et méritent par conséquent d'être d'avantage explorées. Enfin, notre étude expérimentale sur le maïs montre que la compétition entre embryons est prédominante lors de l'allocation des ressources chez cette espèce, ce qui est concordant avec les prédictions de la théorie du conflit sur l'allocationIn seed plants, the endosperm is a surprising nutritive tissue, because it results from double fertilization, an eccentricity which results from the parallel fertilization of the egg cell on the one hand, and of the mother cell of the endosperm, the central cell, on the other hand. In this thesis, we study the selective pressures which drive the evolution of the endosperm and may explain the evolution of (1) double fertilization, (2) a doubling of maternal contributions in the central cell, (3) polyspory, the participation of several meiotic products to the gametophyte and (4) imprinting, the differential expression of maternal and paternal alleles. These innovations modify heterozygosity in the endosperm and as a consequence, have the potential to change heterosis in the seed. In this thesis, we first investigate how genetic changes that result from double fertilization, doubling of maternal contribution, polyspory and imprinting modify heterosis, which may play in favour or against the evolution of these traits. Second, we review the available data to test whether these traits are the result of a male-female conflict over resource allocation. Finally, we study experimentally patterns of resource allocation in maize to assess whether embryos compete for resources, which is a necessary condition for the conflict over resource allocation to occur. Our theoretical models allow us to describe a male-female conflict over the exposition of deleterious alleles in tissues with asymmetrical gene expression. This conflict had never been described before and opens perspectives for understanding the evolution of gene expression. We conclude from our analysis of data that theories which are alternative to the conflict theory over resource allocation may have a better explanatory power and therefore deserve to be further explored. Finally, our experimental study in maize shows that competition between embryos drives resource allocation in this species, which is consistent with predictions of the conflict over resource allocation theory
29
Glaser, Juliane. "Functional characterization of the imprinted Liz/Zdbf2 locus in mice : from the early embryo to adult physiology." Electronic Thesis or Diss., Sorbonne université, 2018. http://www.theses.fr/2018SORUS243.
Full textAbstract:
L’empreinte parentale est un mécanisme de régulation épigénétique qui réduit l’expression d’environ 120 gènes à une seule dose parentale. L’expression monoallélique dépend de marques différentielles de méthylation de l’ADN, établies dans l’ovocyte et le spermatozoïde et maintenues après fécondation dans l’individu en développement. Chez les mammifères, les gènes soumis à empreinte sont essentiels au développement embryonnaire et à certaines fonctions comportementales et physiologiques après la naissance. Définir les mécanismes de régulation et la fonction des gènes soumis à empreinte est une question cruciale en biologie du développement et en pathologie. Mon travail de thèse a concerné l’étude fonctionnelle du locus Zdbf2 chez la souris. Zdbf2 est un gène exprimé paternellement, conservé chez l’humain, mais dont la fonction était inconnue. J’ai pu démontrer que l’activation de Zdbf2 dans le cerveau de souris pré-pubères dépend d’un signal épigénétique indélébile mis en place dès les premiers jours de développement embryonnaire. Cette programmation précoce de Zdbf2 assure une croissance normale du nouveau-né. Mes résultats indiquent de plus que la dose, mais pas l’origine parentale de Zdbf2 est essentielle. Ces découvertes ont été possibles par la création de divers modèles mutants avec des variations de la dose de Zdbf2 dans l’axe hypothalamo-hypophysaire. Ce travail met en lumière la fonction cruciale d’un gène soumis à empreinte, de sa régulation dans l’embryon précoce à son rôle sur la physiologie adulteGenomic imprinting refers to the epigenetic mechanism by which approximately 120 genes are expressed in a parent-of-origin manner. This parental asymmetry in gene expression is mediated through differential profiles of DNA methylation established in the oocyte and the sperm and maintained after fertilization in the developing individual. In mammals, imprinted genes are essential for normal embryo development as well as behavioral and physiological functions after birth. Clarifying the regulation and the function of those genes is thus fundamental in the field of developmental biology and health. During my PhD, I functionally characterized the imprinted Zdbf2 locus in mice. Zdbf2 is a paternally expressed gene, conserved from mouse to human, whose biological function was unknown. I revealed that Zdbf2 activation in the post-natal brain requires an indelible epigenetic signal that is established during the first days of embryogenesis. Additionally, I provided in vivo evidence that early programming of Zdbf2 is essential for proper growth after birth. By generating multiple CRISPR-mediated genetic mutants with varied doses of Zdbf2 in the hypothalamo-pituitary axis, I finally demonstrated that Zdbf2 is a growth-promoting gene, with a dose-sensitive effect and acting independently of its parental origin. Altogether, my work shed light onto the crucial function of a mammalian imprinted gene, from its regulation in the early embryo to its role in adult physiology
30
Martinet-Corbineau, Clémence. "Rôle du gène H19 dans les cellules souches musculaires." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB004/document.
Full textAbstract:
Le gène H19, soumis à l’empreinte parentale, est fortement exprimé durant le développement embryonnaire, cependant, son expression est réprimée après la naissance dans l’ensemble des tissus à l’exception du muscle squelettique, et plus particulièrement des cellules souches musculaires : les cellules satellites. L’objectif de ma thèse a été de déterminer le rôle du gène H19 dans la mise en place et dans la fonction de ces cellules souches durant la myogénèse adulte. En utilisant un modèle murin présentant une délétion du gène H19, les souris H19∆3, notre laboratoire avait montré que le gène H19 est capable de moduler, dans le muscle embryonnaire, l’expression de neuf gènes appartenant à un réseau de gènes soumis à l’empreinte parentale (IGN) impliqué dans la croissance. Au cours de ma thèse, j’ai étudié le phénotype des muscles de ces souris mutantes qui présentent une hyperplasie et une hypertrophie des fibres musculaires. Ce phénotype est accompagné d’une diminution du nombre de cellules satellites qui apparait lors de l’entrée en quiescence de ces cellules. De façon étonnante, nous avons observé une meilleure capacité de régénération, malgré le nombre réduit de cellules satellites, dans les muscles H19∆3 comparée à celle des muscles wt. Cela indique que la capacité d’auto-renouvellement des cellules satellites n’est pas influencée par l’absence du gène H19. De même, nous avons observé une surexpression de plusieurs gènes appartenant à l’IGN lors de la régénération musculaire des muscles mutants comparés aux muscles wt. Ces résultats indiquent que le gène H19 module l’expression des gènes de l’IGN durant l’embryogénèse et par la suite, durant les étapes de régénération de la myogénèse adulteThe imprinted H19 gene is highly expressed during embryonic development. H19 is fully repressed after birth in all tissues, with the exception of skeletal muscle, and especially of the muscle stem cells: the satellite cells. The aim of my thesis was to define the function of the H19 gene in the satellite cells establishment and function during adult myogenesis. Using loss-of-function H19∆3 mice, the laboratory had shown that the H19 gene was able to modulate the expression of several genes belonging to an imprinted gene network (IGN) in the embryonic muscle. During my thesis, I studied the muscle phenotype of these adult mice, which present both fiber hyperplasia and hypertrophy. This phenotype is accompanied by an important reduction of the satellite cell number, probably due to a delay in their entry into quiescence. Unexpectedly, despite the reduction in the number of satellite cells in mutant mice, the self-renewal capacity of the satellite cells is fully retained. In addition, we observe a better regeneration potential of the mutant muscles compared with wt muscles. This is accompanied by the enhanced expression of several genes from the IGN. These results indicate that H19 gene can modulate IGN gene expression both during embryogenesis and after birth, in adult myogenesis
31
Sundström, Veronica. "Cancer i familjen : Kvinnors upplevelser av att genomgå cancerbehandling i relation till närstående." Thesis, Umeå universitet, Institutionen för omvårdnad, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-133945.
Full textAbstract:
ABSTRAKT Bakgrund: Var tredje person i Sverige drabbas någon gång i livet av cancer. Vanliga cancerformer hos kvinnor är bröstcancer, gynekologisk cancer och colo-rektalcancer. Många drabbade kvinnor lever i familj och har ansvar för barn och andra närstående, vilket ställer särskilda krav under sjukdomstiden. Syfte: Att belysa kvinnors erfarenhet av att ha genomgått cancerbehandling i relation till familj och närstående. Metod: Semistrukturerade intervjuer genomfördes år 2016 med tio cancerbehandlade kvinnor som lever i familj. Som analysmetod användes kvalitativ innehållsanalys. Resultat: Studien utmynnade i ett huvudtema: ”Familj och närstående är i en interpersonell process med den sjuka”, och tre teman: ”Att vara en belastning och i utanförskap, ”Kampen att värna familjen” och ”Familj i förändring”, samt tio subteman. Cancerdrabbade kvinnor bar ett praktiskt och känslomässigt ansvar för familjen. Nya insikter om närstående erfors och ensamhetskänslor uppstod då de inte orkade finnas till hands, vilket orsakade en känsla av alienation. Barn och partner gav också tröst och kvinnorna upplevde en gemensam styrka i familjen. Tillit och bättre kommunikation uppstod i familjen. Slutsats: När en mamma drabbas av cancer involveras hela familjen, då den fungerar som ett system där den interpersonella processen påverkar helheten. För att omvårdnad ska fungera tillfredsställande behöver familjen involveras under sjukdomstiden. Nyckelord: Cancer, familj, förälder, gender, kommunikation, omvårdnad, sjuksköterskor, system.ABSTRACT Background: In Sweden, one third of the population is afflicted with cancer at some point in life. Dominant forms among women are breast cancer, gynaecological cancer and colo-rectal cancer. Many afflicted women live in family settings and are responsible for children and other relatives, which poses special demands during their illness. Aim: To illuminate women's experience of undergoing cancer treatment in relation to the family and related parties. Method: Semi-structured interviews were undertaken in 2016 with ten women who had gone through cancer treatment while living in a family setting. The applied method was qualitative contents analysis. Results: The study resulted in the main theme” Families and related parties are in an inter-personal process with the ill person” and three themes: “To be a burden and alienation”,” The struggle to safeguard the family”, “Family affected by change” and ten sub themes. Women afflicted by cancer had practical and emotional responsibilities for their families. New insights about members were gleaned and feelings of loneliness arose when others could not offer enough support, and a sense of alienation could follow. But children and partners were also sources of consolation and many women found strength in their families. Trust and deeper communications developed. Conclusion: When a mother is afflicted by cancer, her whole family is involved, as families function systemically through inter-personal processes. Satisfactory nursing thus requires family involvement during the time of illness. Key words: Cancer, family, parent, gender, communications, nursing, nurses, system.
32
Perry, Katherine. "Negotiating Discordance: How Adolescent-parent Dyads Reach a Joint Decision regarding which Genomic Results to Learn during a Research Study." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1626356893073779.
Full text
33
Rozental, Alexander. "Möjligheter och förbehåll – en diskursanalytisk studie av lesbiska kvinnors erfarenheter av att bilda familj genom assisterad befruktning inom svensk sjukvård." Thesis, Linköpings universitet, Institutionen för beteendevetenskap och lärande, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-68123.
Full textAbstract:
Syftet med studien är att utforska och förstå de resonemang lesbiska par begagnar sig av i beslutsfattandet om reproduktionsmetod. Här ingår även berättelser kring de erfarenheter paren har av möten med professionella inom svensk sjukvård och myndighetsutövning. Studien består av tio intervjuer med lesbiska par, vilka har fått barn inom den offentliga sjukvården sedan detta blev tillgängligt den 1 juli år 2005. Materialet har analyserats med hjälp av kvalitativ metod i det diskursanalytiska fältet. Resultatet visar att parens beslut har föregåtts av en process där alternativ har vägts mot varandra. Här återfinns två typer av tolkningsrepertoarer där svensk sjukvård har fått företräde på grundval av externa omständigheter. Den ena kretsar kring ett samhällsperspektiv där olika juridiska faktorer används retoriskt för att framhäva valet som rimligt. Den andra utgår ifrån ett familjeperspektiv, där det externa synliggörs genom konsekvenserna de får för den egna familjebilden. Resultatet visar samtidigt på de erfarenheter paren har av att genomföra assisterad befruktning i Sverige. Dels beskrivs upplevelserna utifrån utsatthet, där rollen som vårdtagare och homosexuell framställs som en dubbel sårbarhet. Dels framkommer resonemang om acceptans, genom vilken paren hanterar och föregår bristande bemötande med olika argument som reducerar potentiella stressorer.
34
Denizot, Anne-Lyse. "Identifying the role of the imprinted gene Pw1/Peg3 in the central nervous system." Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066389/document.
Full textAbstract:
Chez les mammifères, une centaine de gènes sont soumis à une régulation épigénétique où seule la copie maternelle, ou paternelle, est exprimée. Ce phénomène appelé empreinte parentale alimente encore différentes théories liées à la reproduction, notamment celles du conflit parental et de la coadaptation entre mère et enfant. Pw1/Peg3 est un gène d'empreinte paternellement exprimé. Cependant, à l'aide de deux modèles de souris bien distincts, une souris rapporteur (Pw1IRESnLacZ) et une nouvelle souris knockout pour Pw1/Peg3, nous avons détecté des transcrits Pw1/Peg3 maternels dans le cerveau périnatal. Plus précisément, nous avons mis en évidence une expression bi-allélique du gène rapporteur Pw1IRESnLacZ restreinte aux deux futures niches de cellules souches neurales adultes. In vitro, nous avons conclu, via des cultures primaires de cellules souches neurales, que l'expression bi-allélique endogène de Pw1/Peg3 est un évènement ponctuel rare. D'ailleurs lors de la caractérisation de notre modèle de souris Pw1/Peg3 knockout, nous avons observé un retard de croissance uniquement lors de la délétion de l'allèle Pw1/Peg3 paternel. Ce phénotype n'est pas lié à un problème de prise alimentaire chez les nouveaux-nés et contrairement à ce qui a été précédemment décrit, nous n'avons détecté aucun défaut de comportement maternel chez les femelles mutantes pour Pw1/Peg3. La lactation n'est pas non plus impactée par la délétion de Pw1/Peg3. Ces résultats démontrent que Pw1/Peg3 favorise intrinsèquement la croissance postnatale et que, désormais, ce gène d'empreinte ne peut plus être utilisé afin d'illustrer la théorie de coadaptation entre mère et enfantIn mammals, a hundred of genes are preferentially expressed from one specific parental allele; a phenomenon referred as genomic imprinting. Establishing theories to explain the emergence of such a gene dosage strategy is challenging. Pw1/Peg3 is a paternally expressed gene. Using both a reporter mouse model and a novel constitutive knockout mouse model, we detected Pw1/Peg3 transcription from the maternal allele, which is normally silent, in the perinatal brain. Specifically, we observed that a putative Pw1/Peg3 bi-allelic expression is mainly restricted to the two future adult neural stem cells niches. In vitro experiments on primary neural stem cells allowed us to conclude that imprinting relaxation of the Pw1/Peg3 maternal allele is a rare event. Whether it affects the mouse phenotype is currently under investigation. In parallel, consistent with previously established mutant mouse models we confirmed that paternal Pw1/Peg3 deletion leads to growth retardation. However we did not find any impairment in maternal behaviors upon heterozygous or homozygous loss of Pw1/Peg3. Lactation was also not disrupted and mutant pups exhibited a normal suckling ability. Taken together, PW1/PEG3 promotes growth intrinsically and can no longer be used to illustrate the popular coadaptation theory between mother and infant
35
Zale, Peter J. "GERMPLASM COLLECTION, CHARACTERIZATION, AND ENHANCEMENT OF EASTERN PHLOX SPECIES." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1417694536.
Full text
36
PARMIANI, LISA CHIARA. "Legami tra generazioni e difficoltà di separazione-individuazione durante la transizione all'età adulta. Il ruolo del divorzio dei genitori e del genere in un campione di giovani italiani." Doctoral thesis, Università Cattolica del Sacro Cuore, 2008. http://hdl.handle.net/10280/234.
Full textAbstract:
Abbiamo esaminato il ruolo della separazione coniugale e del genere nello spiegare il coinvolgimento in processi familiari disfunzionali, le difficoltà di separazione-individuazione e il benessere psicologico dei figli giovani adulti. È stata privilegiata la dimensione etica dei rapporti tra le generazioni, espressa nelle percezioni di giustizia e cura nelle relazioni familiari.
Un primo studio, quantitativo, è stato condotto su un campione di 264 soggetti tra i 20 e i 30 anni, provenienti da nuclei separati e intatti, a cui è stato somministrato un questionario self report. I figli di separati tendono ad esprimere più marcatamente sentimenti di ingiustizia relativi alla famiglia d'origine, e ad enfatizzare la propria indipendenza affettiva dai genitori. Le femmine esprimono un maggiore sovraccarico legato alla cura emotiva dei familiari, riportano tendenze depressive e più intensi timori di perdere l'affetto dei genitori .
Nel secondo studio, sperimentando un approccio metodologico composito, abbiamo approfondito il tema dei confini generazionali e delle difficoltà di separazione-individuazione in un piccolo campione di giovani donne provenienti da genitori separati. Abbiamo riscontrato che la transizione all'età adulta risulta rallentata dalle responsabilità di cura assunte verso la madre, o al contrario accelerato, nel bisogno di prendere le distanze da lei.
Nel terzo studio, illustrando alcuni dei risultati emersi attraverso l'analisi di due casi, abbiamo rilevato la significatività della funzione paterna per la separazione delle figlie nei nuclei monogenitoriali successivi alla separazione coniugale.We examined the role of parental divorce and gender in young adults' involvement in dysfunctional family processes, as well as in their difficulties of separation-individuation and their psychological well-being. The first study is quantitative and was conducted with a sample of 264 subjects, aged between 20 and 30, who filled in a self report questionnaire. Results showed that children of divorced parents express more feelings of unfairness towards their family of origin, and emphasize their emotional independence from their parents. Females feel the burden of emotional caregiving for their parents more than males and are more vulnerable to depression. Moreover, females are more afraid of losing their parents' love. In the second study we used a mixed method approach to study generational boundaries and separation-individuation difficulties in a small sample of young women with divorced parents. Results showed that the transition to adulthood may either be hindered by the emotional burden of children's responsibilities towards the parents (especially the mother) or accelerated by the need to put one's familiar experience at a distance. In the third study, through two case studies, we explored some of the results obtained in the multimethodological section. This analysis suggested the importance of considering the role of the paternal function in helping young women separate from their mothers in single parent families.
37
Alexis, Mariana, and Österberg Martin. "Icke-farmakologiska interventioner som reducerar preoperativ oro och ångest hos föräldrar till barn som ska genomgå kirurgi : En systematisk litteraturstudie." Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-102431.
Full textAbstract:
Bakgrund: Hälften av samtliga föräldrar upplever ångest inför att barnet ska genomgå anestesi. Preoperativ oro och ångest hos föräldrar kan exempelvis bero på att operationsmiljön upplevs skrämmande och att barnet kan tänkas uppleva smärta under vårdförloppet, men kan även relateras till anestesiinduktion och den separation från barnet som uppkommer härvid. Den ångest som föräldrar upplever kan överföras och inverka negativt på barnet. Syfte: Syftet var att undersöka tillgängliga interventioner samt deras effekt med avsikten att reducera preoperativ oro och ångest hos föräldrar till barn som ska genomgå kirurgi. Metod: En systematisk litteraturstudie genomfördes där 12 kvantitativa originalstudier söktes fram i databaserna Cinahl, Pubmed och PsycInfo, vilka kvalitetsgranskades och systematiskt analyserades. Relevanta resultat ur artiklarna extraherades i enlighet med Bettany-Saltikov och McSherry där avsikten var att via syntetisering generera föreliggande studies resultat. Resultat: Den systematiska litteraturstudien påvisar att preoperativa förberedelser i form av Undervisning via digitala hjälpmedel, Distraktion via lek, humor och musik, Förberedelser via preoperativ information samt Kombinerad preoperativ undervisning, medicinsk lek och rundvandring är interventioner som reducerar preoperativ oro och ångest hos föräldrar. Slutsats: Resultatet påvisade att flera interventioner hade en reducerande effekt avseende preoperativ oro och ångest hos föräldrar, men därtill att interventioner måste vara individuellt anpassade och i tillräckligt hög grad vara riktade till föräldrar för att erhålla önskvärd effekt.Background: Half of all parents experience anxiety before the child undergoes anesthesia. Preoperative worry and anxiety in parents may, for example, be due to the fact that the surgical environment is experienced as frightening and that the child may experience pain during the course of care, but may also be related to anesthesia induction and the separation from the child that arises. The anxiety that parents experience can be transmitted to and cause negative effects on the child. Aim: The aim was to examine available interventions and their effects regarding intention of reducing preoperative worry and anxiety in parents of children undergoing surgery. Method: A systematic literature review was conducted where 12 quantitative original studies were applied from the databases Cinahl, Pubmed and PsycInfo, which were quality checked and systematically analyzed. Relevant results from the articles were extracted in accordance to Bettany-Saltikov and McSherry where the intention was to generate the results of this review by synthesization. Results: The systematic literature review demonstrates that preoperative preparations in terms of Teaching by digital aids, Distraction by play, humor and music, Preparation by preoperative information and Combined preoperative teaching, medical play and tour are interventions reducing preoperative worry and anxiety in parents. Conclusion: The results demonstrate that several interventions had a reducing effect regarding preoperative worry and anxiety in parents, but in addition that interventions must be individually customized and sufficiently directed at parents to obtain the desired effect.
38
Abi, Habib Walid. "Identification de nouveaux mécanismes moléculaires dans les pathologies de croissance fœtale et postnatale des syndromes de Beckwith-Wiedemann et de Silver-Russell : approche génétique et épigénétique." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066151.
Full textAbstract:
La croissance fœtale et postnatale est un processus finement régulé par des facteurs génétiques, épigénétiques et environnementaux complexes. Le système des IGFs (insulin-like growth factors) est l’un des acteurs principaux jouant un rôle crucial dans le développement fœtal et postnatal. Chez l’humain, plusieurs mutations des gènes IGF1 et IGF-1R ainsi qu’une mutation d’origine paternelle d’IGF2 ont été rapportées chez des patients ayant un retard de croissance intra-utérin (RCIU) qui peut persister et/ou s’aggraver en postnatal. Par ailleurs, les phénomènes épigénétiques comme la méthylation de l’ADN et le code histone jouent également un rôle prépondérant dans le développement fœtal et postnatal. L’empreinte parentale, mise en place grâce à des marques épigénétiques, est un des mécanismes important pour le développement fœtal. Chez l’humain, une anomalie de régulation de gènes soumis à empreinte parentale est associée à plusieurs syndromes de retard de croissance intra-utérin et postnatal ou à l’inverse de croissance excessive. Ce travail comporte deux parties: nous nous sommes dans un premier temps particulièrement intéressés à l’étude génétique et épigénétique de la région 11p15.5 et de son centre d’empreinte régulant le domaine IGF2/H19 dans une population de patients ayant une croissance excessive ou bien un RCIU (syndromes de Beckwith-Wiedemann et Silver-Russell respectivement), afin de mieux comprendre la régulation de ce domaine. Puis, la deuxième partie de notre étude a porté sur l’identification de nouvelles causes génétiques et épigénétiques de syndrome de Silver-Russell, altérant l’expression d’IGF2 mais n’étant pas directement secondaires à un défaut moléculaire de la région 11p15.5Fetal and postnatal growth is a process finely regulated by genetic, epigenetic and environmental complex. The IGFs system (insulin-like growth factors) is one of the main actors playing a crucial role in fetal and postnatal development. In humans, several mutations of IGF1 and IGF-1R genes and a paternal IGF2 mutation have been reported in patients with intrauterine growth restriction (IUGR), which can persist and/or worsen in postnatal life. Moreover, epigenetic phenomena such as DNA methylation and histone code also play a major role in fetal and postnatal development. Genomic imprinting, established due to epigenetic marks, is one of the major mechanisms for fetal development. In humans, abnormal regulation of genes subject to imprinting is associated with several syndromes of intrauterine and postnatal growth restriction or conversely excessive growth. This work has two parts: we initially particularly interested in the genetic and epigenetic study of the 11p15.5 region and its imprinting control region regulating the IGF2/H19 domain in a population of patients with overgrowth or IUGR (Beckwith-Wiedemann syndrome and Russell-Silver respectively), to better understand the regulation of this area. Then, the second part of our study focused on the identification of new genetic and epigenetic causes of Silver-Russell syndrome, altering the expression of IGF2, without being directly caused by a molecular defect of 11p15.5 region
39
Cercy, Jil. "Vers l'identification des facteurs impliqués dans la régulation concertée des gènes soumis à empreinte dans le cerveau." Thesis, Université Clermont Auvergne (2017-2020), 2019. http://www.theses.fr/2019CLFAC061.
Full textAbstract:
Un challenge majeur concernant l’empreinte parentale est de comprendre comment l’expression des loci à empreinte peut être différentiellement régulée selon les stades de développement et les tissus. Cette question est importante dans le cerveau car l’expression précise de cette classe de gènes est impliquée dans de nombreux processus neurologiques. Récemment, l’équipe d’accueil a révélé que la chromatine bivalente aux régions de contrôle de l’empreinte (ICR), combinant les marques H3K4me3 (permissive) et H3K27me3 (répressive), contribue à l’expression tissu-spécifique des gènes soumis à empreinte. L’objectif de ma thèse est d’identifier les facteurs de transcription (FT) qui contrôlent la dynamique de H3K27me3 aux ICR dans les lignées neurales, en utilisant un modèle adapté de corticogenèse in vitro. Grâce à une première approche gène-candidat, j’ai identifié la protéine TET3 (ten-eleven translocation 3) comme étant impliquée dans le maintien du différentiel de méthylation ADN aux ICR Peg10, Impact et Zrsr1 dans les lignées neurales. De plus, TET3 régule indirectement d’autres loci d’empreinte, tels que Mest et Peg3, potentiellement en activant l’expression d’un gène codant pour une déméthylase de H3K27me3, Jmjd3 (jumonji domain containing 3). En parallèle, mon projet principal de thèse vise à identifier ces FT de manière exhaustive, grâce à la mise en place d’une approche non biaisée originale. Notre rationnel est que la régulation des gènes soumis à empreinte dépend de réseaux d’interaction médiés par les facteurs Polycomb et les FT qui régulent la dynamique de H3K27me3 aux ICR. Avec le modèle de corticogenèse, nous avons récemment généré une carte résolutive des signatures moléculaires et tridimensionnelles des loci à empreinte, en s’appuyant en particulier sur des expériences de 4C (circular chromosome conformation capture) alléliques dans lesquelles 10 ICR sont utilisées comme ancre. Grâce à une analyse préliminaire de ces données, nous avons pu observer que les ICR sont capables de s’associer physiquement avec certains promoteurs de gènes à empreinte en cis, et que ces contacts sont très fréquemment médiés par l’allèle paternel de l’ICR. Ces analyses questionnent sur le rôle potentiel d’enhancer des ICR. L’analyse complète des données haut-débit de RNA-seq, ChIP-seq, RRBS et 4C à deux étapes de la corticogenèse nous fournira une vue intégrative, allélique et dynamique des signatures linéaires, comme les marques histones et la transcription, mais aussi de l’organisation 3D des ICR. Ces ressources inédites seront traitées par modélisation mathématique afin d’identifier des candidats robustes impliqués dans l’expression cerveau-spécifique des gènes à empreinte. Une fois ce projet abouti, nous disposerons d'un outil pertinent qui fait défaut aujourd’hui, permettant de révéler les mécanismes contrôlant l'empreinte dans le cerveau dans un contexte sain et pathologiqueOne major challenge in genomic imprinting is to understand how the expression of imprinted loci is regulated at different developmental stages and tissues. This issue is of particular importance in brain where the fine-tuned regulation of imprinted expression is involved in various neurological processes. Recently, my host team revealed that the so-called bivalent chromatin structure at Imprinting Control Regions (ICR), combining the permissive H3K4me3 and repressive H3K27me3 marks, contributes to the appropriate tissue-specific expression of imprinted genes. My objective is to identify the transcription factors (TF) controlling H3K27me3 dynamic at ICR during neural lineage commitment by using a validated in vitro model of murine corticogenesis. By a candidate-based approach, I identified TET3 (ten-eleven translocation 3) as a regulator potentially involved in differential DNA methylation maintenance at Peg10, Impact and Zrsr1 ICR. Moreover, TET3 indirectly regulates other imprinted loci, such as Mest and Peg3, possibly by activating the H3K27me3-specific demethylase gene Jmjd3 (jumonji domain containing 3) in neural lineages. Meanwhile, the main part of my thesis aims to identify those TF exhaustively by conducting an original non-biased approach. Our rational is that the regulation of imprinted genes relies on Polycomb- and TF-mediated physical networks that regulate H3K27me3 dynamic at ICR. With the model of corticogenesis, we have recently generated a high-resolution map of allelic molecular signatures and genome architecture at imprinted domains, mainly by the mean of allelic 4C (circular chromosome conformation capture) experiments using 10 ICR as bait. In this manuscript, a preliminary analysis allowed us to observe that ICR are involved in cis-interactions with imprinted genes promoters, and that these contacts are frequently mediated by paternal unmethylated allele of ICR. Those observations raise the question about the potential enhancer function of ICR. Once high-throughput data from RNA-seq, ChIP-seq, RRBS and 4C at two steps of corticogenesis fully analyzed, it will provide an allelic and integrative view of linear genomics features dynamic, such as histone modifications and transcription, in combination with the dynamic of the 3D organization at ICR. This unprecedented resource will be treated by mathematical modeling to identify robust candidate actors of brain-specific imprinted expression. Outcome of this project will provide us relevant, and so far missing, tools to decipher the underlying mechanisms involved in brain-specific imprinting in normal and pathological contexts
40
Forde, Alison Christine. "Genome Size Diversity and Patterns within the Annelida." Thesis, 2013. http://hdl.handle.net/10214/5375.
Full textAbstract:
This thesis concerns genomic variation within the Annelida, for which genome size studies are few and provide data for only a handful of groups. Genome size estimates were generated using Feulgen image analysis densitometry for 35 species of leeches and 61 polychaete species. Relationships were explored utilizing collection location and supplementary biological data from external sources. A novel, inverse correlation between genome size and maximum adult body size was found across all leeches. Leeches that provide parental care had significantly larger genome sizes than leeches that do not. Additionally, specimens identified as Nephelopsis obscura exhibited geographic genome size variation. Within the Polychaeta, Polar region polychaete genomes were significantly larger than those of Atlantic and Pacific polychaetes. These studies represent the first exploration of leech genome sizes, and provide base evidence for numerous future studies to examine relationships between genome size and life history traits across and within different annelid groups.
41
Xiang, Ruidong. "Differential maternal and paternal genome effects on placental and fetal phenotype and gene expression at midgestation." Thesis, 2014. http://hdl.handle.net/2440/104056.
Full textAbstract:
Lifelong development is largely programmed prenatally. Genetic and epigenetic factors, such as mitochondrial (mt) DNA variation and parent-of-origin effects, significantly contribute to variation in important prenatal phenotypes that determine lifetime development, including placenta and fetal musculoskeletal system. Such effects initially impact on transcriptome expression levels and eventually give rise to altered phenotypic traits. However, data regarding the overall magnitude and specificity of maternal and paternal genome effects in mammalian prenatal development is lacking. The present study aimed to dissect and quantify differential maternal and paternal genome effects on specific placental and fetal traits, and associated transcriptomic events which drive prenatal development. A large bovine fetal resource (n=73), consisting of both purebreds and reciprocal hybrids with Bos taurus taurus (Angus) and Bos taurus indicus (Brahman) (epi) genetics, was used in this study. We examined 41 gross- and histo-morphological placental and fetal traits, 51 fetal bone weight and geometry parameters, and 22 myofibre characteristics and muscle mass parameters using morphometrical and/or immunohistochemical methods. Expression of the long non-coding RNA H19 in fetal muscle was determined by real time quantitative PCR. Profiles of mRNA and microRNA expression were obtained with microarrays that contained 24,027 and 13,133 mammalian probe sets, respectively, to assess transcript abundances in fetal liver. Phenotypic data were analysed by Analysis of Variance (ANOVA) using general linear models with nested effects and transcriptome data were analysed with microarray ANOVA procedures. The analyses identified 49 significant placental and fetal traits, including five principal components representing 51 bone parameters, and H19 gene expression levels in muscle, with ANOVA model significance levels (P) ranging from 3×10⁻²-9×10⁻¹⁷. We showed that parental genomes contributed to the largest proportion of variation explained by linear models for a majority of placental and fetal traits. Fetal sex was the next most significant factor to explain variation in these traits and non-genetic maternal effects, such as post-conception weight gain and final maternal weight, explained the least amount of variation. Significant effects of the maternal genome (P<5×10⁻²-5×10⁻¹³) predominantly contributed to genetic variation in: (i) Gross- and histo-morphological placental traits and fetal organ weights (59.6−99.9%,); (ii) most extracted principle components (PCs) representing bone weight and geometry traits, including PC1/bone mass (74%), PC3/limb elongation (73%), PC4/flat bone elongation (74%) and PC5/axial skeletal growth (97%) and (iii) most myofibre characteristics including fast myofibre cross-sectional area (CSA, 93%), total cell CSA (82%), absolute mass of studied muscles (59-88%) and H19 transcript abundance in fetal muscle (76%). Conversely, significant paternal genome (P<4×10⁻²-7×10⁻⁸) predominantly contributed to genetic variation in: (i) Fetal fluids weight (73%), umbilical cord weight and length (73%), maternal placenta (70%) and umbilical cord (83%) efficiencies; (ii) PC2/limb ossification (95%) and (iii) Relative mass of studied muscles to fetal weight (54-97%). Further, using nested effects in ANOVA, we found that maternal genome strongly determined regressions between placental weights and umbilical cord traits (P<4×10⁻²-2×10⁻⁶), whereas paternal genome and/or fetal sex determined regressions between weight of fetus, fetal organ and fetal fluid s and umbilical cord traits (P<5×10⁻²-10×10⁻⁸). For fetal liver transcription profiles, maternal genome strongly affected expression levels of: (i) Twenty-four mRNA transcripts (false discovery rate, FDR adjusted P<4×10⁻²-10×10⁻⁶), 13 of which were located in the mt genome and (ii) ten autosomal non-coding RNA transcripts including mammalian SNORD113-9, small nucleolar (sno)RNA, MIR187 and MIR1973 microRNA (FDR adjusted P<5×10⁻²-8×10⁻³). Paternal genome moderately affected expression levels of: (i) Forty-seven autosomal mRNA transcripts (FDR adjusted, P<5×10⁻²-4×10⁻²) (ii) MIR184 microRNA transcripts in five mammalian species (FDR adjusted, P<5×10⁻²-4×10⁻²). Two significant coexpression networks, between 86 significant mRNAs and non-coding RNA transcripts, were also identified for differential maternal and paternal genome effects. Our results show, for the first time, that a wide range of phenotypic and molecular traits within the placental-fetal system are affected by differential maternal and paternal genome and fetal sex effects. Identified differential maternal and paternal genome effects on specific placental and fetal traits are consistent with expression patterns of parent-of-origin effects predicted by both conflict-of-interest and maternal-offspring coadapdation hypotheses, thereby providing important insights to accommodate both hypotheses that explain the evolutionary basis of genomic imprinting effects. Observed complex, and predominantly maternal genome, effects are suggested to result from interaction between epigenetic factors from nuclear and mt genomes via RNA interference. This is further evidence for complex epigenetic crosstalk and coordination that contributes to mammalian prenatal development. Identified morphological and transcriptional modules within the placental-fetal system help to provide a new level of understanding prenatal development, i.e., systematic integration of omics data. Detailed molecular profiles of all core tissues and organs are now required to elucidate genetic, epigenetic and non-genetic components and interactions that control variation in placental and fetal phenotype. Future studies linking genome and epigenome with phenome data covering the complete placental-fetal system will provide a new multi-layer picture of understanding coordination for molecular and phenotypic events driving mammalian prenatal development.Thesis (Ph.D.) -- University of Adelaide, School of Animal and Veterinary Sciences , 2014.
42
Guo, Zheng Kun, and 郭政昆. "Distinguishing of parental genomes in nicotiana somatic hybrids by in situ hybridization." Thesis, 1994. http://ndltd.ncl.edu.tw/handle/42548124217972304808.
Full text
43
Chung, Ping-Yuan, and 鍾秉元. "Determination of Parental Lines for Biparental Crossing in Rice using Genomic Prediction." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/cq8dmv.
Full textAbstract:
碩士國立臺灣大學
農藝學研究所
107
The determination of parental lines is the first and most important step to a successful bi-parental crossing plant breeding program. A set of superior parental lines can lead to high performing recombinant inbred lines (RILs). In this study, we propose to select parental lines of rice based on genomic prediction (GP). The GP is applied to predict genomic estimated breeding values (GEBVs) for all the candidate parental lines and the RILs after several generations of self-pollinating. Some strategies of selecting the parental lines are investigated through simulation studies based on a high-quality rice genome dataset. It is shown that the best strategy in general takes both the GEBVs and the genomic diversity of parental lines into account. In this study, we present a set of parental lines for each of 21 quantitative traits. We also investigate the best selection strategy for 6 different combinations of two target traits. Our proposed systematic analysis procedure can be applicable to other self-pollinated crops, and it is readily extended to the more complex multi-trait situations with three or more target traits. Some R functions are provided for users to exercise the analysis procedure.
44
Hore, Tim. "The Evolution of Genomic Imprinting and X Chromosome Inactivation in Mammals." Phd thesis, 2008. http://hdl.handle.net/1885/49309.
Full textAbstract:
Genomic imprinting is responsible for monoallelic gene expression that depends on the sex of the parent from which the alleles (one active, one silent) were inherited. X-chromosome inactivation is also a form of monoallelic gene expression. One of the two X chromosomes is transcriptionally silenced in the somatic cells of females, effectively equalising gene dosage with males who have only one X chromosome that is not complemented by a gene poor Y chromosome. X chromosome inactivation is random in eutherian mammals, but imprinted in marsupials, and in the extraembryonic membranes of some placentals. Imprinting and X inactivation have been studied in great detail in placental mammals (particularly humans and mice), and appear to occur also in marsupial mammals. However, both phenomena appear to have evolved specifically in mammals, since there is no evidence of imprinting or X inactivation in non-mammalian vertebrates, which do not show parent of origin effects and possess different sex chromosomes and dosage compensation mechanisms to mammals.¶ In order to understand how imprinting and X inactivation evolved, I have focused on the mammals most distantly related to human and mouse. I compared the sequence, location and expression of genes from major imprinted domains, and genes that regulate genomic imprinting and X-chromosome inactivation in the three extant mammalian groups and other vertebrates. Specifically, I studied the evolution of an autosomal region that is imprinted in humans and mouse, the evolution of the X-linked region thought to control X inactivation, and the evolution of the genes thought to establish and control differential expression of various imprinted loci. This thesis is presented as a collection of research papers that examines each of these topics, and a review and discussion that synthesizes my findings.¶ ...
45
Frappier, Andrée-Ann. "Par-delà le rose et le bleu : l'expérience des parents d'enfants transgenres." Thèse, 2018. http://hdl.handle.net/1866/20724.
Full text
46
Tremblay, Isabelle. "Utilisation des tests génétiques en neuro-développement : perspectives médicales et parentales." Thèse, 2018. http://hdl.handle.net/1866/22558.
Full text
47
Shapiro, Jonathan. "A Novel Approach to Identify Candidate Imprinted Genes in Humans." Thesis, 2012. http://hdl.handle.net/1807/32278.
Full textAbstract:
Many imprinted genes are necessary for normal human development. Approximately 70 imprinted genes have been identified in humans. I developed a novel approach to identify candidate imprinted genes in humans using the premise that imprinted genes are often associated with nearby parent-of-origin-specific DNA differentially methylated regions (DMRs). I identified parent-of-origin-specific DMRs using sodium bisulfite-based DNA (CpG) methylation profiling of uniparental tissues, mature cystic ovarian teratoma (MCT) and androgenetic complete hydatidiform mole (AnCHM), and biparental tissues, blood and placenta. In support of this approach, the CpG methylation profiling led to the identification of parent-of-origin-specific differentially methylated CpG sites (DMCpGs) in known parent-of-origin-specific DMRs. I found new DMRs for known imprinted genes NAP1L5 and ZNF597. Most importantly, I discovered many new DMCpGs, which were associated with nearby genes, i.e., candidate imprinted genes. Allelic expression analyses of one candidate imprinted gene, AXL, suggested polymorphic imprinting of AXL in human blood.