Dissertations / Theses on the topic 'Genomic imprinting'
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Santure, Anna Wensley, and n/a. "Quantitative genetic models for genomic imprinting." University of Otago. Department of Zoology, 2006. http://adt.otago.ac.nz./public/adt-NZDU20060811.134008.
Full textWhitehead, Joanne. "Genomic Imprinting in Development and Evolution." Doctoral thesis, Uppsala universitet, Zoologisk utvecklingsbiologi, 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4491.
Full textMcCann, Jennifer. "Variability of genomic imprinting in human disease." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84294.
Full textWilms' tumour (WT) is a renal embryonal cancer associated with overexpression of the insulin-like growth factor 2 (IGF2). IGF2 is directed to the lysosomes for degradation by the mannose-6-phosphate/insulin-like growth factor two receptor (M6P/IGF2R) encoded by the IGF2R gene, a known tumour suppressor gene on 6826. IGF2R is imprinted in the mouse, with exclusive maternal expression. In humans, however, IGF2R imprinting is a polymorphic phenomenon only being found in a small subset of people. We present results suggesting that IGF2R imprinting provides the first "hit" in IGF2R inactivation in WT, and show the presence of a second "hit" in the form of deletions detectable as loss of heterozygosity.
Another disease investigated in this report is Type 1 diabetes (TID), an autoimmune, polygenic disease. Of the several T1D loci, IDDM8 on 6q, has been found to be subject to parent-of-origin effects and encompasses IGF2R. M6P/IGF2R is involved in immune system regulation. In this study we show an association between TID and IGF2R that is confined to maternally inherited alleles. Our results strongly suggest that IGF2R is a TID susceptibility gene and may be universally imprinted at some tissue or developmental stage not yet studied.
A third disease displaying both tissue-specific and isoform-specific imprinting is Silver-Russell syndrome (SRS), a growth disorder associated with double dose of a maternally expressed gene within 7p11.2--p13, a region in which the imprinted GRB10 gene was a prime candidate. We studied the complex tissue and isoform-dependence of GRB10 imprinting and demonstrated absence of imprinting in growth plate cartilage, the tissue most directly involved in linear growth thus eliminating GRB10 as the gene responsible for SRS.
It is evident that genomic imprinting plays a prominent role in various diseases. Imprinted genes can be expressed in a tissue-specific, isoform-specific or a temporally regulated manner. In addition, there is a wide variability of imprinting between individuals.
Sun, Bowen. "Genomic imprinting in mouse pluripotent stem cells." Thesis, University of Cambridge, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609478.
Full textZhou, 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 textLucifero, Diana. "Developmental regulation of genomic imprinting by DNA methylation." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=85573.
Full textRancourt, Rebecca Catherine. "Functional genomic analysis of an imprinting control region." Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608514.
Full textAdams, Sally. "Genomic imprinting in the endosperm of Arabidopsis thaliana." Thesis, University of Bath, 2002. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.760803.
Full textCoan, Philip Michael. "Placental development and genomic imprinting in the mouse." Thesis, University of Cambridge, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.613928.
Full textHore, 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 textMungall, Andrew James. "Evolution and gene regulation of the genomic imprinting mechanism." Thesis, Open University, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.487154.
Full textJames, Rowena Sarah. "Genomic imprinting and the aetiology of human chromosome abnormalities." Thesis, University of Southampton, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295874.
Full textMathers, Lucille Sarah. "The role of DNA methyltransferases in plant genomic imprinting." Thesis, University of Bath, 2008. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.512263.
Full textTucker, Kerry Lee. "A genetic investigation of the establishment of genomic imprinting." Thesis, Massachusetts Institute of Technology, 1997. http://hdl.handle.net/1721.1/46070.
Full textClayton, Crisenthiya Indunil. "Methylation and genomic imprinting in the bumblebee, Bombus terrestris." Thesis, University of Leicester, 2013. http://hdl.handle.net/2381/27798.
Full textPicard, Colette Lafontaine. "Dynamics of DNA methylation and genomic imprinting in arabidopsis." Thesis, Massachusetts Institute of Technology, 2019. https://hdl.handle.net/1721.1/122539.
Full textCataloged from PDF version of thesis.
Includes bibliographical references (pages 210-226).
DNA methylation is an epigenetic mark that is highly conserved and important in diverse cellular processes, ranging from transposon silencing to genomic imprinting. In plants, DNA methylation is both mitotically and meiotically heritable, and changes in DNA methylation can be generationally stable and have long-lasting consequences. This thesis aims to improve understanding of DNA methylation dynamics in plants, particularly across generations and during reproduction. In the first project, I present an analysis of the generational dynamics of gene body methylation using recombinant inbred lines derived from differentially methylated parents. I show that while gene body methylation is highly generationally stable, changes in methylation state occur nonrandomly and are enriched in regions of intermediate methylation.
Important DNA methylation changes also occur during seed development in flowering plants, and these changes underlie genomic imprinting, the phenomenon of parent-of-origin specific gene expression. In plants, imprinting occurs in the endosperm, a seed tissue that functions analogously to the mammalian placenta. Imprinted expression is linked to DNA methylation patterns that serve to differentiate the maternally- and paternally-inherited alleles, but the mechanisms used to achieve imprinted expression are often unknown. I next explore imprinted expression and DNA methylation in Arabidopsis lyrata, a close relative of the model plant Arabidopsis thaliana. I find that the majority of imprinted genes in A. lyrata endosperm are also imprinted in A. thaliana, suggesting that imprinted expression is generally conserved. Surprisingly, a subset of A. lyrata imprinted genes are associated with a novel DNA methylation pattern and may be regulated by a different mechanism than their A.
thaliana counterparts. I then explore the genetics of paternal suppression of the seed abortion phenotype caused by mutation of a maternally expressed imprinted gene. Finally, I present the first large single-nuclei RNA-seq dataset generated in plants, reporting data from 1,093 individual nuclei obtained from developing seeds. I find evidence of previously uncharacterized cell states in endosperm, and examine imprinted expression at the single-cell level. Together, these projects contribute to our understanding of DNA methylation and imprinting dynamics during plant development, and highlight the strong generational stability of certain DNA methylation patterns.
by Colette Lafontaine Picard.
Ph. D.
Ph.D. Massachusetts Institute of Technology, Computational and Systems Biology Program
Leung, Tsin-wah. "Imprinting genes in gestational trophoblastic diseases /." View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B36434504.
Full textLeung, Tsin-wah, and 梁展華. "Imprinting genes in gestational trophoblastic diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B45010845.
Full textBowden, 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 textHolmes, Rebecca Jane. "Analysis of a novel cluster of imprinted genes." Thesis, University of Oxford, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270370.
Full textTavoosidana, Gholamreza. "Epigenetic Regulation of Genomic Imprinting and Higher Order Chromatin Conformation." Doctoral thesis, Uppsala universitet, Zoologisk utvecklingsbiologi, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7435.
Full textTavoosidana, Gholamreza. "Epigenetics Regulation of Genomic Imprinting and Higher Order Chromatin Conformation /." Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7435.
Full textGygax, Derek. "Comprehensive Review on the Existence of Genomic Imprinting in Aves." VCU Scholars Compass, 2014. http://scholarscompass.vcu.edu/etd/3375.
Full textWroe, Stephanie Fay. "Identification of imprinted genes on mouse distal Chr 2 by suppression subtractive hybridisation and a candidate gene approach." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343038.
Full textZhou, 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 textNorris, Dominic Paul. "X chromosome inactivation in the mouse." Thesis, Open University, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282142.
Full textHore, Timothy Alexander. "The evolution of genomic imprinting and X chromosome inactivation in mammals /." View thesis entry in Australian Digital Theses Program, 2008. http://thesis.anu.edu.au/public/adt-ANU20081216.152553/index.html.
Full text陳春玲 and Chunling Chen. "A study of genomic imprinting and DNA methylation in gynecological cancers." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31241517.
Full textWakeling, Emma Louise. "Genomic imprinting and Silver-Russell syndrome : candidate genes on chromosome 7." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325386.
Full textRagsdale, 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 textAmarasinghe, Kankanamge Harindra Eranthi. "DNA methylation, genomic imprinting and polyphenism in the bumblebee, Bombus terrestris." Thesis, University of Leicester, 2015. http://hdl.handle.net/2381/32434.
Full textZhang, Fangyuan. "Detecting Genomic Imprinting and Maternal Effects in Family-Based Association Studies." The Ohio State University, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=osu1429820748.
Full textFrost, Jennfier May. "Genomic imprinting in human stem cells and human peripheral blood leukocytes." Thesis, Imperial College London, 2009. http://hdl.handle.net/10044/1/4661.
Full textChen, Chunling. "A study of genomic imprinting and DNA methylation in gynecological cancers /." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk/hkuto/record.jsp?B2344017X.
Full textMadon, Marta. "Characterisation of the imprinted genes in mouse, Grb10 and Dlk1." Thesis, University of Bath, 2012. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.557801.
Full textJones, Meaghan Jessica. "Characterization of a novel fluorescent reporter of genomic imprinting in the mouse." Thesis, University of British Columbia, 2010. http://hdl.handle.net/2429/23320.
Full textOh-McGinnis, Rosemary. "Placental phenotypes associated with abnormal genomic imprinting on distal mouse chromosome 7." Thesis, University of British Columbia, 2011. http://hdl.handle.net/2429/36801.
Full textSzeto, Yuk Yee. "Studies on genomic imprinting and gene expression of the mouse Peg3 locus." Thesis, University of Cambridge, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.620959.
Full textPerez, Julio David. "Genomic Imprinting in the Brain: the persistent influences from Mom and Dad." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17467497.
Full textBiology, Molecular and Cellular
Kinser, Taliesin. "Misregulation of Genomic Imprinting Drives Abnormal Seed Development in Hybrid Monkeyflowers (Mimulus)." W&M ScholarWorks, 2017. https://scholarworks.wm.edu/etd/1516639867.
Full textMagalhães, Hélida Regina. "Análise do padrão de metilação do gene Peg3 em diferentes regiões de cérebro de bovinos da raça Nelore." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-02032010-145407/.
Full textThe maternal behavior is essential to survival and development of mammalian offspring. Throughout pregnancy, females receive sensory and hormonal stimuli which promote modifications and prepare the mothers brain to the onset of maternal behavior patterns (for example, by increasing numbers of neurons producing oxytocin in the hypothalamus). Studies have identified the hypothalamus as the main responsible for these changes, but other areas of the brain are also involved in the maternal behavior process. Peg3, an imprinted paternally expressed gene, is known to control maternal behavior in mice. Peg3 knockout females failed in increasing food intake, milk ejection and some maternal activities as placentofagia and nest building. This study aimed to determine the methylation patterns of the differently methylated region of Peg3 (DMR-Peg3) of animals from Nellore cattle breed in several areas of the brain. Samples were collected from the following areas of cattle brain: the frontal, occipital, temporal and parietal cortices, hippocampus and hypothalamus, in a total of 8 animals (4 males and 4 females). The methylation pattern of these samples was analyzed by the protocol COBRA (Combined Bisulfite-Restriction Analysis), which combines DNA modification by sodium bisulfite, PCR amplification and digestion by restriction enzymes. It was found different methylation patterns among the samples. There was a predominance of hypomethylation among male samples, while different patterns were found among the female samples. Variation in the methylation patterns was more markedly observed among samples of the same cerebral region among different animals, then among samples of several regions within an animal. The results suggest that there may be a variation in the imprinting status at a population level, but further assays, with an increased number of samples are needed to verify the statistical significance of this variation.
Tevendale, Maxine Christine Lesley. "An embryological and mechanistic analysis of genomic imprinting of mouse distal chromosome 12." Thesis, University of Cambridge, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.619900.
Full textJiang, Shan. "Establishing genomic imprinting by cell differentiation a model system using embryonic germ cells /." Available to US Hopkins community, 2000. http://wwwlib.umi.com/dissertations/dlnow/3099377.
Full textKiefer, Christine Mione. "The identification, establishment, and maintenance of genomic imprints." [Gainesville, Fla.] : University of Florida, 2005. http://purl.fcla.edu/fcla/etd/UFE0010118.
Full textTypescript. Title from title page of source document. Document formatted into pages; contains 137 pages. Includes Vita. Includes bibliographical references.
Hu, Yueqing. "Some topics in the statistical analysis of forensic DNA and genetic family data." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/hkuto/record/B38831491.
Full textPandey, Gaurav Kumar. "Regulatory Roles of Noncoding RNA in Development and Disease." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-209596.
Full textJeffries, Sean Joseph. "Imprint erasure and DNA demethylation in mouse development." Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608949.
Full textRobinett, Sheldon J. (Sheldon Jay). "Genomic imprinting: support for the concept from a study of Prader-Willi Syndrome patients." Thesis, University of North Texas, 1994. https://digital.library.unt.edu/ark:/67531/metadc332745/.
Full textNeugebauer, Nadine [Verfasser]. "Investigations on the importance of genomic imprinting for genetic variation in livestock / Nadine Neugebauer." Kiel : Universitätsbibliothek Kiel, 2010. http://d-nb.info/1019904429/34.
Full textElves, Rachel Leigh. "Consequences of mitotic loss of heterozygosity on genomic imprinting in mouse embryonic stem cells." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/1564.
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