Structural and dynamics study of G-rich sequences relevant to genomic disorders
Aberrant DNA repeat expansions have been linked to several (> 30) neurological and muscular disorders. In this dissertation, we present structural studies performed on two such repeat sequences GGGGCC and TGG using Nuclear Magnetic Resonance Spectroscopy (NMR) and other biophysical techniques....
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| Format: | Thesis-Doctor of Philosophy |
| Language: | English |
| Published: |
Nanyang Technological University
2020
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| Online Access: | https://hdl.handle.net/10356/141701 |
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| Institution: | Nanyang Technological University |
| Language: | English |
| Summary: | Aberrant DNA repeat expansions have been linked to several (> 30) neurological and
muscular disorders. In this dissertation, we present structural studies performed on two
such repeat sequences GGGGCC and TGG using Nuclear Magnetic Resonance
Spectroscopy (NMR) and other biophysical techniques. The GGGGCC repeat in human
chromosome 9 was recently identified as the most common genetic abnormality in
familial ALS/FTD. The TGG repeat is present in abundance in multiple genomic
locations that are associated with neurodevelopmental abnormalities and
spinocerebellar ataxia. Given the fact that complex DNA and/or RNA secondary
structures are hypothesized to play crucial roles in the development of the diseases,
structures obtained from our work provides new target for the concerned diseases.
Furthermore, the structure obtained from the TGG repeat sequence study also helps to
unravel the folding principles of G-quadruplex structures of sequences devoid of
consensus G3+ tracts and containing irregularly spaced short G-tracts. |
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