Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 50 for “"chromosomal rearrangements"”.
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Molecular cytogenetics and genetic characterisation of chromosomal rearrangements
… technologies to investigate germline and somatic chromosomal rearrangements in humans. Firstly, 16 patients with cytogenetically detectable deletions of 3p25-p26 were analysed with high density single nucleotide polymorphism (SNP) microarrays; Affymetrix 250K SNP microarrays (n=14) and Affymetrix …
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Comparative genomics of chromosomal rearrangements in malaria mosquitoes
To better understand the evolutionary dynamics of chromosomal inversions, a physical map for an Asian malaria vector, Anopheles stephensi, was created and compared with the maps of the major African malaria vectors A. gambiae and A. funestus No interchromosomal transposition was observed between A. …
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Analysis of Chromosomal Rearrangements in Host Specific Salmonella Serovars
All three techniques indicate that there is no inherent difference in recombination frequency, ability to tolerate inversions, or rate of inversion at rrn operons in either generalist or host-specific serovar of Salmonella enterica. Analysis of inversions at rrn operons suggests that both …
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The Extent and Nature Of Chromosomal Rearrangements in B Lymphocytes
<p>Chromosomal rearrangements, including translocations, require formation and joining of DNA double strand breaks (DSBs). These events disrupt the integrity of the genome and are frequently involved in producing leukemias, lymphomas and sarcomas. Mature B cell lymphomas are unique among tumors in …
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Uniparental disomy as a cause for congenital malformations and or developmental delay in inherited apparently balanced chromosomal rearrangements
Chromosomal translocations are said to be balanced if there is no apparent gain or loss of genetic material. Apparently balanced chromosomal rearrangements are usually associated with a normal phenotype [Therman 1986, Daniel 1988]. However the frequency of mental retardation and congenital …
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DNA FRAGILE SITE BREAKAGE AS A MEASURE OF CHEMICAL EXPOSURE AND PREDICTOR OF THE SUSCEPTIBILITY TO FORM CHROMOSOMAL REARRANGEMENTS
… by various genetic abnormalities including chromosomal translocations which require DNA breakage. These DNA breaks can occur through exogeneous chemical exposures and/or at regions particularly susceptible to breakage termed “common fragile sites (CFS)”. To test the hypothesis that fragile …
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The Molecular Basis of Fragile Site FRA16B and its Role in inv(16)(p13q22) in Acute Myeloid Leukemia
… correspond to DNA breakpoints in a number of chromosomal rearrangements observed in tumor cells, but there has been no comprehensive examination of the location of fragile sites relative to breakpoints in all known cancer-specific abnormalities, or direct evidence of a role for fragile sites …
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The Molecular Mechanism of Break Induced Replication
… of collapsed replication forks and several chromosomal instabilities. Recently, our lab demonstrated that the fidelity of DNA synthesis associated with BIR in yeast Saccharomyces Cerevisiae is extremely low. The level of frameshift mutations associated with BIR is 1000-fold higher as …
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Fusion genes in breast cancer
Fusion genes caused by chromosomal rearrangements are a common and important feature in haematological malignancies, but have until recently been seen as unimportant in epithelial cancers. The discovery of recurrent fusion genes in prostate and lung cancer suggests that fusion genes may play an …
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Next Generation Sequencing: Applications for the Clinic
… is a process designed to identify and interpret chromosomal rearrangements that are related to disease. And finally, the third is a technique used to calculate the copy number of mitochondrial DNA. These methods were developed for use in the clinical lab and can have a practical role in …
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Epigenetic Determinants of CRISPR-Cas9 genotoxicity
… and the likelihood of off-target effects or chromosomal rearrangements. However, these events are rare enough to be beyond the sensitivity of standard sequencing technologies, so their identification requires bespoke approaches. To assess genotoxicity linked to Cas9-mediated genome editing, …
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Development of broadly applicable transgenic tools for the transposon mutagenesis of the red flour beetle, Tribolium castaneum
… sites can be precisely identified and designed chromosomal rearrangements (inversions, duplications and deletions) created. Here I could present a universal system, which can be introduced into non-drosophilid species and enables such chromosomal rearrangements, which I could successfully …
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Helitrons are enriched in lichenized fungi with long generation length and small distribution sizes
… mutations and causing structural instability and chromosomal rearrangements, particularly under conditions like environmental or genetic stress. In this study, we generated 18 new long-read reference genomes for lichenized fungi, which form obligate mutualistic symbioses with algae or a …
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Genetic Control of Genomic Alterations Induced in Yeast by Interstitial Telomeric Sequences
… adjacent to the ITS as well as several types of chromosomal rearrangements. The major class of these rearrangements was the terminal inversion, which inverted the chromosome segment between the ITS and the “true” chromosome telomere. In the current study, we examined the genetic control of these …
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FROM MICRONUCLEI TO EMT: MOLECULAR MECHANISMS OF GENOMIC INSTABILITY AND CELLULAR PLASTICITY
Chromosomal instability and its cellular consequences represent critical aspects of cancer progression and genomic instability. The research presented in this thesis encompasses two complementary projects, focusing on distinct yet interconnected molecular pathways. The first project investigates …
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Sculpting 3d Chromatin Folding Via Genome Editing
… Pathogenic domain disruptions can result from chromosomal rearrangements or perturbation of architectural factors. However, such broad-scale alterations are insufficient to define the minimal requirements for domain formation. Moreover, to what extent domains can be engineered is only beginning …
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Contribuição à citotaxonomia dos Scorpaeniformes (Osteichthyes - Teleostei): estudos citogenéticos em espécies do litoral do Rio de Janeiro, Brasil
… chromosomes morphology, as the result of several chromosomal rearrangements, especially pericentric inversions followed by Robertsonian translocations. This great chromosomal diversity found in a group of essentially marine fishes, differs from what is found in the majority of the other marine …
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Mechanisms and Consequences of Chromosomal Instability in Malignant tumours
… bridging was found to be associated with chromosomal instability in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural chromosomal aberrations and was also associated with …
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