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 8 of 8 for “"non-B DNA"”.
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The involvement of non-B DNA forming sequences in mediating missense mutations, micro-deletions and micro-insertions in human inherited disease
The involvement of the local DNA sequence features (repetitive elements capable of adopting non-B structures, hotspot motifs, mononucleotide runs and tandem repeats) and epigenetic marks in mediating germline missense and nonsense mutations, micro-deletions and micro-insertions causing human …
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Structural determinants of mutability across cancer genomes
… of this variation. Here the role of alternative DNA structures was investigated across a multitude of whole-genome sequenced cancers. Sequences that are predisposed to fold in alternative DNA structures can be identified by the primary DNA sequence of the human genome and are collectively known …
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Genetic interactions of repriming and translesion synthesis
… It has been previously shown to restart DNA synthesis past replication impediments such as DNA damage or non-B-DNA secondary structures. To probe the genetic interactions of PRIMPOL, genome-wide CRISPR/Cas9 knockout screens were undertaken in the human TK6 cell line. The most interesting …
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Double-Strand Break Repair Pathways In Dna Structure-Induced Genetic Instability
… In the absence of exogenous sources of DNA damage, the DNA structure itself has been implicated in genetic instability. When the canonical B-DNA helix is naturally altered to form a non-canonical DNA structure such as a Z-DNA or H-DNA, this can lead to genetic instability in the form of …
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DNA topology and Pol II CTD phosphorylation as stepwise regulators of chromatin architecture in differentiating human stem cells
… from heterochromatin, and repositioned through DNA looping. While each of these features of Pol II regulation has been well studied in individual cell types, it remains unclear how a single genome can support hundreds of distinct fates. Combinatorial transcription factor binding explains part of …
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Computational analyses of non-canonical architectural and structural features associated with alternative splicing
… machines currently known. Even though the canonical splicing signals that drive the precise recognition of splice sites are well-characterised, recent advances in transcriptome profiling technologies and computational method development have enabled widespread identification of non-canonical …
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Unveiling Global Roles of G-Quadruplexes and G4-22 In Human Genetics
<p>G-quadruplexes are non-B DNA structures formed by four or more runs of repeated guanines that confer unique features to living organism’s genomes. These sequences are enriched in regulatory regions, such as promoters and 5’ UTRs, and have distinct regulatory roles in both health and disease …