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Rozprawy doktorskie na temat „Genomic imprinting”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

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.

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A gene is imprinted when its expression is dependent on the sex of the parent from which it was inherited. An increasing number of studies are suggesting that imprinted genes have a major influence on medically, agriculturally and evolutionarily important traits, such as disease severity and livestock production traits. While some genes have a large effect on the traits of an individual, quantitative characters such as height are influenced by many genes and by the environment, including maternal effects. The interaction between these genes and the environment produces variation in the charact

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Whitehead, 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.

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Genetic information is encoded by the linear sequence of the DNA double helix, while epigenetic information is overlayed as the packaging of DNA and associated proteins into the chromatin structure. Variations in chromatin structure play a vital role in establishing and maintaining patterns of gene expression during differentiation and development of higher eukaryotes, and disruption of this epigenetic gene regulation can lead to cancer. Mammals display an epigenetic phenomenon known as genomic imprinting, which provides an ideal model system for the study of epigenetics. Genes subject to geno

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McCann, 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.

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Genomic imprinting is the differential expression of genetic material depending on the parent from which it is transmitted. It is involved in the pathogenesis of many diseases, especially those involved in development, growth abnormalities and cancer. We examined the extent of and the variability of genomic imprinting amongst individuals in three human diseases, Wilms' tumour, Type 1 diabetes and Silver-Russell syndrome.<br>Wilms' 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 degra

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4

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.

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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.

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Lucifero, 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.

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Maintaining appropriate patterns of gene expression in the gametes and during early embryogenesis is essential for normal development. DNA methylation is an epigenetic means of regulating gene expression and is an important molecular mark regulating the sex-specific expression of genes subject to genomic imprinting. Imprinted genes are expressed from only one of two inherited chromosomes and are differentially marked during gametogenesis to allow for their parental allele specific expression. These genes affect embryo growth, placental function, behavior after birth and are implicated i

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7

Rancourt, 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.

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8

Adams, 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.

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9

Coan, 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.

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10

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.

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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 place

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11

Mungall, 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.

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Genomic imprinting describes an epigenetic mechanism by which genes are active or silent depending on their parental origin. Imprinting exists in plants and mammals, but how this monoallelic expression mechanism has evolved is not understood at the molecular leveL Here I describe the mapping, sequencing and analysis of vertebrate orthologous imprinted regions spanning 11.5 Mb of genomic sequence from species with and without genomic imprinting. In eutherian (placental) mammals, imprinting can be regulated by differential DNA methylation, non-coding RNAs, enhancers and insulator elements. The s

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12

James, 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.

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13

Mathers, 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.

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Genomic imprinting is the epigenetic modification of loci, primarily by DNA methylation, which results in parent-of-origin-specific monoallelic expression of a small subset of genes. In plants, imprinting occurs during endosperm development and a balance of maternally- and paternally-expressed imprinted genes is essential for normal seed development. Dependence on DNA methylation for imprinting highlights the potential to manipulate seed development, and consequently seed size, by altering DNA methyltransferase activity. DNA METHYLTRANSFERASE 1 (MET1) is the primary plant maintenance DNA methy

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14

Tucker, Kerry Lee. "A genetic investigation of the establishment of genomic imprinting." Thesis, Massachusetts Institute of Technology, 1997. http://hdl.handle.net/1721.1/46070.

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Clayton, Crisenthiya Indunil. "Methylation and genomic imprinting in the bumblebee, Bombus terrestris." Thesis, University of Leicester, 2013. http://hdl.handle.net/2381/27798.

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Genomic imprinting, the parent-of-origin specific silencing of alleles, plays an important role in phenotypic plasticity and consequently evolution. The leading explanation for genomic imprinting is Haig's conflict theory, which suggests that alleles from each parent have evolved under different selectional pressures, resulting in the differential expression of patrigenes and matrigenes. Previous studies have mainly used mammals and flowering plants to test Haig’s theory. However, there is a lack of independent evidence to support the theory. My PhD thesis attempts to conduct an independent te

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16

Picard, Colette Lafontaine. "Dynamics of DNA methylation and genomic imprinting in arabidopsis." Thesis, Massachusetts Institute of Technology, 2019. https://hdl.handle.net/1721.1/122539.

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Thesis: Ph. D., Massachusetts Institute of Technology, Computational and Systems Biology Program, 2019<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references (pages 210-226).<br>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 d

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17

Leung, Tsin-wah. "Imprinting genes in gestational trophoblastic diseases /." View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B36434504.

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18

Leung, 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.

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19

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.

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20

Holmes, 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.

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21

Tavoosidana, 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.

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The genetic information encoded by the DNA sequence, can be expressed in different ways. Genomic imprinting is an epigenetic phenomenon that results in monoallelic expression of imprinted genes in a parent of origin-dependent manner. Imprinted genes are frequently found in clusters and can share common regulatory elements. Most of the imprinted genes are regulated by Imprinting Control Regions (ICRs). H19/Igf2 region is a well known imprinted cluster, which is regulated by insulator function of ICR located upstream of the H19 gene. It has been proposed that the epigenetic control of the insula

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22

Tavoosidana, 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.

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23

Gygax, Derek. "Comprehensive Review on the Existence of Genomic Imprinting in Aves." VCU Scholars Compass, 2014. http://scholarscompass.vcu.edu/etd/3375.

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Genomic imprinting results in monoallelic parent-of-origin gene expression. Therian mammals show conclusive evidence for imprinting, while the evidence in Aves is conflicting. It’s unclear if Aves have the proteins necessary for establishment and maintenance of imprinting loci. Every examined avian orthologue to mammalian imprinted genes shows biallelic expression providing evidence for a lack of imprinting in Aves. While the known parent-of-origin quantitative trait loci in chicken do not overlap with differentiated methylated regions, further analysis with a larger sample size is required. N

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24

Wroe, 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.

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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.

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Norris, Dominic Paul. "X chromosome inactivation in the mouse." Thesis, Open University, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282142.

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Hore, 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.

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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.

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Wakeling, 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.

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30

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.

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31

Amarasinghe, 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.

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Genomic imprinting, the parent-of-origin specific expression of alleles is an important area of research in evolutionary biology and human health (cancers and developmental syndromes). Haig’s kinship theory suggests that the maternally and paternally derived alleles of offspring resource allocation genes have evolved under different selectional pressures. Thus within different kin related individuals they are expressed unequally, each allele favouring their own inclusive fitness. Social insects provide the best independent model system to study the evolution of imprinting. However, imprinting

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32

Zhang, 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.

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Frost, 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.

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Genomic imprinting in mammals is the monoallelic expression of genes in a parent-of origin dependent manner. Imprinting can be transient and tissue specific, indicative of its role in specific developmental regimes. Placental specific imprinting has been found to be non-conserved between humans and mice. A new model of human trophoblast, trophoblast stem cells (hTS), differentiated from human embryonic stem (hES) cells, allows analysis of placental specific imprinting during the earliest stages of placentation. The use of cell lines to characterise imprinting in vivo is limited by epigenetic a

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Chen, 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.

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Madon, 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.

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Genomic imprinting provides an exception to the Mendelian rule of inheritance, as imprinted genes are preferentially expressed in a parent-of-origin specific manner. They play important roles in the development of embryonic and extra-embryonic lineages and postnatally in the maintenance of correct metabolic homeostasis as well as regulation of adult behaviour. The parental conflict theory predicts that maternally expressed genes act as growth suppressors, limiting the usage of maternal resources, and that paternally expressed genes function in an opposite manner to promote growth at the expens

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Jones, 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.

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Regulation of inserted transcriptional units by epigenetic means has been reported for many years, and has been used to study characteristics of epigenetic regulation. Some of these transgenes have become regulated by genomic imprinting, and thus are expressed from only one of the two parental chromosomes and, occasionally, acquire parent-of-origin-specific epigenetic markings such as DNA methylation. These transgenes in particular have been useful in elucidating mechanisms of imprinted regulation. Here is described the first imprinted fluorescent transgene, a green fluorescent protein (GFP)

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Oh-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.

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Imprinted genes are expressed either from the maternal or paternal allele during development and tend to be found in clusters throughout the mammalian genome, suggesting they may be regulated by long-range mechanisms. Many of them have important roles in placental development. The Beckwith-Wiedemann Syndrome (BWS) region on human chromosome 11p15.5 contains two imprinted subdomains each regulated by their own differentially methylated regions, known as imprinting centres (IC1 and IC2). These two imprinted subdomains are separated by an evolutionarily conserved region of about 300 kilobases. Di

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Szeto, 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.

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Perez, 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.

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Most mammalian genes are equally expressed from the two inherited parental alleles. However, a puzzling subgroup known as imprinted genes are preferentially expressed from either the maternally- or paternally-inherited copy. Interestingly, many imprinted genes identified so far are expressed in the brain and mutations cause striking defects in brain development and function, in some cases leading to mental disorders such as autism-spectrum disorders. To better understand the extent of genomic imprinting in the brain and gain insights into its potential roles, I have investigated genomic imprin

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Kinser, Taliesin. "Misregulation of Genomic Imprinting Drives Abnormal Seed Development in Hybrid Monkeyflowers (Mimulus)." W&M ScholarWorks, 2017. https://scholarworks.wm.edu/etd/1516639867.

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Genomic imprinting is the preferential expression of one allele over the other. It is an epigenetic phenomenon that occurs in the placentas of mammals and the endosperm of angiosperms. Endosperm, like placentas, is a nutrient rich tissue that supports the growing embryo within the seed. All grains are predominantly composed of this tissue. It is the product of a second fertilization event, resulting in both maternal and paternal alleles. Some alleles are regulated differentially, resulting in imprinted genes. There are both paternally expressed imprinted genes (PEGs) and maternally expressed i

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41

Magalhães, 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/.

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O comportamento materno é essencial para a sobrevivência e desenvolvimento do filhote mamífero. Durante a prenhez, as fêmeas recebem estímulos sensoriais e hormonais capazes de modificar e preparar o cérebro da mãe para o início dos padrões de comportamento materno (por exemplo, aumentando o número neurônios produtores de oxitocina no hipotálamo). Estudos têm identificado o hipotálamo como o principal responsável por estas mudanças, porém outras áreas do cérebro também estão envolvidas no processo do comportamento materno. Peg3, um gene marcado paternalmente expresso, é conhecido por controlar

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42

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.

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Jiang, 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.

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44

Kiefer, Christine Mione. "The identification, establishment, and maintenance of genomic imprints." [Gainesville, Fla.] : University of Florida, 2005. http://purl.fcla.edu/fcla/etd/UFE0010118.

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Thesis (Ph.D.)--University of Florida, 2005.<br>Typescript. Title from title page of source document. Document formatted into pages; contains 137 pages. Includes Vita. Includes bibliographical references.

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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.

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Pandey, 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.

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Long noncoding RNAs (lncRNAs) are being realized as important players in gene regulation and their misregulation has been considered as one of the underlying causes for tumor initiation and progression in many human pathologies. In the current thesis, I have addressed the functional role of lncRNAs in development and disease model systems. Genomic imprinting is an epigenetic phenomenon by which subset of genes are expressed in a parent of origin-specific manner. The Kcnq1 imprinted locus is epigenetically regulated by Kcnq1ot1 lncRNA. Deletion of an 890bp region at the 5’ end of Kcnq1ot1 in mo

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Jeffries, 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.

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Robinett, 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/.

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In this study, nineteen cases of suspected or clinically diagnosed Prader-Willi Syndrome (PWS) were tested for molecular deletions by in situ hybridization with two DNA probes, IR4-3R and GABRB3. Both probes are specific for sequences within the chromosome region 15q11-13, with IR4-3R located within the putative PWS region and GABRB3 in the distal area associated with Angelman Syndrome.

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Neugebauer, 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.

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Elves, 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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Epigenetic differences between maternally inherited and paternally inherited chromosomes, such as CpG methylation, render the maternal and paternal genome functionally inequivalent, a phenomenon called genomic imprinting. This functional inequivalence is exemplified with imprinted genes, whose expression is parent-of-origin specific. The dosage of imprinted gene expression is disrupted in cells with uniparental disomy (UPD), which is an unequal parental contribution to the genome. I have derived mouse embryonic stem (ES) cell sub-lines with maternal UPD (mUPD) for mouse chromosome 6 (MMU6) to

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