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Dissertations / Theses on the topic 'Telomeric DNA; Genome'

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1

Brown, Karen E. "Telomere-directed breakage of the human Y chromosome." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.260731.

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2

Bhattacharjee, Anukana M. S. "Characterization of the DNA Binding Properties of CST (CTC1-STN1-TEN1) And Their Importance for CST Function in Telomeric as well as Genome-wide Replication." University of Cincinnati / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1504781845245038.

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3

Pataskar, Shashank S. "Structure Function Studies Of Biologically Important Simple Repetitive DNA Sequences." Thesis, Indian Institute of Science, 2000. http://hdl.handle.net/2005/261.

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The recent explosion of DNA sequence information has provided compelling evidence for the following facts. (1) Simple repetitive sequences-microsatellites and minisatellites occur commonly in the human genome and (2) these repetitive DNA sequences could play an important role in the regulation of various genetic processes including modulation of gene expression. These sequences exhibit extensive polymorphism in both length and the composition between species and between organisms of the same species and even cells of the same organism. The repetitive DNA sequences also exhibit structural polym
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4

Starling, Jacqueline. "Telomeres and related repetitive DNA in the mouse genome." Thesis, University of Edinburgh, 1992. http://hdl.handle.net/1842/14482.

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This project was designed to isolate and characterise interstitial telomere repeat containing loci from the human and mouse genomes and to investigate the nature of the mouse telomere. Cloning of the internal telomere repeat loci proved to be extremely difficult and so alternative methods such as restriction enzyme analysis, hybridisation analysis, inheritance studies, and mapping within recombinant inbred and backcross mouse strains were employed to characterise these regions within the mouse genome. Similar methods were used to characterise mouse telomeres. From these experiments it was show
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5

Khurana, Jaspreet S. "Drosophila piRNA Function in Genome Maintenance, Telomere Protection and Genome Evolution: A Dissertation." eScholarship@UMMS, 2010. https://escholarship.umassmed.edu/gsbs_diss/518.

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Upon fertilization, the early embryo sustains most of the cellular processes using the maternally deposited reserves in the egg itself until the zygotic gene expression takes charge. Among the plethora of essential components provided by the mother are small non-coding RNAs called PIWI-interacting RNAs (piRNAs), which provide immunity to the zygote against transposon challenge. In this thesis, I have presented three different functions of piRNAs in Drosophila melanogaster- in maintenance of genomic integrity, telomere protection and their role as an adaptive immune system against genomic paras
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6

Dechyeva, Daryna. "Molecular-cytogenetic analysis of repetitive sequences in genomes of Beta species and hybrids." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2006. http://nbn-resolving.de/urn:nbn:de:swb:14-1153318263914-87397.

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The elucidation of the composition and organization of genomes of higher plants is a fundamental problem of modern molecular biology. The genus Beta containing 14 species assigned to the sections Beta, Corollinae, Nanae and Procumbentes provides a suitable system for the comparative study of the nuclear genomes. Sugar beet Beta vulgaris has a genome size of 758 Mbp DNA with estimated 63 % repetitive sequences and the number of chromosomes n=9. The wild beet Beta procumbens is an important natural pool of resistance against pests and tolerance to unfavorable growth conditions. The subject of th
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7

Beyer, Tracey Elaine, and Tracey Elaine Beyer. "Ontogeny of Unstable Chromosomes Formed by Telomere Replication Error." Diss., The University of Arizona, 2016. http://hdl.handle.net/10150/621103.

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The integrity of the genome relies on the maintenance of chromosomes, the structural embodiment of the genetic material. Disruption of chromosome replication can lead to extensive genomic rearrangements, spanning kilobase (Kb) to megabase (Mb) regions. Some chromosome rearrangements are inherently dynamic, beginning as a single unstable rearrangement from which multiple rearrangements emerge. The rare formation and transient behavior of unstable chromosomes renders their study challenging. Here I characterize the genetic ontogeny of unstable chromosomes in a budding yeast model, from initial r
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8

Silva, João Paulo Lopes da. "Comparação dos Perfis Transcricionais de Genes de Reparo e Duplicação do DNA e Medidas de Comprimento Telomérico entre Grupos de Indivíduos Jovens, Idosos e Centenários." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-28072015-114601/.

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A instabilidade genômica tem sido implicada como um dos principais fatores relacionados ao processo de envelhecimento. Esta é consequência do acumulo de danos no DNA em células somáticas continuamente expostas a fatores endógenos e exógenos. Um grupo de proteínas que desempenha diversos papéis na manutenção e estabilidade do genoma é formado pelas RecQ helicases, atuando em vários processos do metabolismo celular, tais como replicação do DNA, recombinação, reparo do DNA e manutenção dos telômeros. Algumas evidencias relacionam a expressão aberrante destas proteínas ao envelhecimento precoce. C
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9

Monfouilloux, Sylvaine. "Etude de la structure et de l'évolution d'une région de translocations sous télomériques chez l'homme." Rouen, 1997. http://www.theses.fr/1997ROUES065.

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Les extrémités des chromosomes comportent le télomère puis la région sous télomérique. Ces deux domaines se distinguent des autres régions chromosomiques car ils évoluent par des échanges entre les chromosomes hétérologues. Le télomère est une structure spécialisée constituant la fin des chromosomes et indispensable à leur stabilité. Il joue un rôle important dans l'organisation spatiale des chromosomes en particulier dans l'agglutination des extrémités chromosomiques en périphérie nucléaire. La région sous télomérique, adjacente au télomère est très redondante entre les chromosomes hétérologu
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10

Burkert, Christian Martin. "Cis-regulation and genetic control of gene expression in neuroblastoma." Doctoral thesis, Humboldt-Universität zu Berlin, 2021. http://dx.doi.org/10.18452/23008.

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Genregulation beeinflusst Phänotypen im Kontext von Gesundheit und Krankheit. In Krebszellen regulieren genetische und epigenetische Faktoren die Genexpression in cis. Das Neuroblastom ist eine Krebserkrankung, die häufig im Kindesalter auftritt. Es ist gekennzeichnet durch eine geringe Anzahl exonischer Mutationen und durch häufige Veränderungen der somatischen Kopienzahl, einschließlich Genamplifikationen auf extrachromosomaler zirkulärer DNA. Bisher ist wenig darüber bekannt, wie lokale genetische und epigenetische Faktoren Gene im Neuroblastom regulieren. In dieser Arbeit kombiniere ich di
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11

Konstantinidis, Michalis. "Preimplantation genetic diagnosis : new methods for the detection of genetic abnormalities in human preimplantation embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:28611f65-7729-4293-9c3f-4fc3f0cc39d7.

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Preimplantation genetic diagnosis (PGD) refers to the testing of embryos produced through in vitro fertilization (IVF) in order to identify those unaffected by a specific genetic disorder or chromosomal abnormality. In this study, different methodologies were examined and developed for performance of PGD. Investigation of various whole genome amplification (WGA) methods identified multiple displacement amplification as a reliable method for genotyping single cells. Furthermore, this technology was shown to be compatible with subsequent analysis using single nucleotide polymorphism (SNP) microa
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12

Le, Guen Tangui. "Caractérisation phénotypique et moléculaire de déficiences humaines liées à des dysfonctions des télomères et / ou de la réparation de l’ADN." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T092/document.

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Le maintien de l'intégrité du génome est essentiel pour la survie cellulaire et la propagation de l'information génétique. Une mauvaise prise en charge des dommages de l’ADN et / ou une aberration de la maintenance de l’intégrité des télomères - les extrémités des chromosomes linéaires - provoquent chez l'homme des pathologies associées à une instabilité génétique. Ainsi, des dysfonctions télomériques sont à l’origine de la Dyskératose Congénitale (DC), et de sa forme rare et sévère, le Syndrome de Hoyeraal-Hreidarsson (HHS). Les DC et HHS se caractérisent principalement par une insuffisance m
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13

Ghosal, Gargi. "Biochemical Characterization Of Saccharomyces cerevisiae Mre11/Rad50/Xrs2 Using Telomeric DNA : A Role For The Endonucleolytic Activity Of Mre11 In Telomere Length Maintenance And Its Regulation By Rad50." Thesis, 2007. http://hdl.handle.net/2005/499.

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Meiotic recombination is a prerequisite for exchange of genetic information in all Sexually reproducing organisms. This process is initiated by the formation of double stranded breaks (DSBs) in DNA followed by homology directed repair. The process is subjected to surveillance mechanisms that control DSB formation and allow for repair of DSBs by halting cell cycle progression. Interestingly, though generation of DSBs is an Essential event in meiosis they are nevertheless regarded as the most lethal forms of DNA damage. If left unrepaired a single DSB can lead to gene deletion, duplication, tran
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14

Poon, Betty Po Kei. "Roles for the Cohibin Complex and its Associated Factors in the Maintenance of Several Silent Chromatin Domains in S. cerevisiae." Thesis, 2012. http://hdl.handle.net/1807/33494.

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In Saccharomyces cerevisiae, the telomeres and rDNA repeats are repetitive silent chromatin domains that are tightly regulated to maintain silencing and genome stability. Disruption of the Cohibin complex, which maintains rDNA silencing and stability, also abrogates telomere localization and silencing. Cohibin-deficient cells have decreased Sir2 localization at telomeres, and restoring telomeric Sir2 concentrations rescues the telomeric defects observed in Cohibin-deficient cells. Genetic and molecular interactions suggest that Cohibin clusters telomeres to the nuclear envelope by binding inn
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15

Benslimane, Yahya. "Genome-wide CRISPR screens for the interrogation of genome integrity maintenance networks." Thesis, 2020. http://hdl.handle.net/1866/25540.

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Le matériel génétique (l’ADN) d’un organisme contient l’information nécessaire à sa survie, sa croissance et sa reproduction. La perte de cette information affecte grandement la santé de l’organisme et cette altération est l’un des facteurs les plus courants dans le vieillissement ou le cancer. Quasiment toutes les cellules d’un organisme contiennent une copie de ce matériel génétique, communément appelé le génome, et font usage de plusieurs mécanismes pour en réparer les sections endommagées ainsi que pour le copier avec précision lors de la division cellulaire. Nous avons ch
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16

Stauropoulos, Dimitrios James. "An analysis of the interplay between telomeric factors and DNA repair proteins, in the human ALT pathway and cellular response to genomic double strand breaks." 2005. http://link.library.utoronto.ca/eir/EIRdetail.cfm?Resources__ID=478811&T=F.

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17

Ghadaouia, Sabrina. "Étude des mécanismes d'entrée en sénescence suite à une dysfonction de la chromatine télomérique." Thèse, 2016. http://hdl.handle.net/1866/18329.

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La sénescence réplicative est le phénomène associé à un arrêt de croissance permanent causé par le raccourcissement progressif des télomères à chaque division. Lorsqu’ils atteignent une longueur critique, les télomères perdent leur structure terminale protectrice en t-loop, ce qui révèle l’extrémité du chromosome et déclenche une Réponse aux dommages à l’ADN (RDA) p53-dépendante. Le nombre de télomères ouverts nécessaire à la mise en place de la sénescence n’est pas connu, mais plusieurs évidences suggèrent que la cellule pourrait en tolérer un certain nombre avant de s’arrêter définitivement.
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