Title Information
Title
The Trouble with Triples:Elucidating the Behavior of Trinucleotide Repeats in Chromatin
Name: Personal
Name Part
Volle, Catherine B
Role
Role Term: Text
creator
Origin Information
Copyright Date
2014
Physical Description
Extent
xviii, 224 p.
digitalOrigin
born digital
Note
Thesis (Ph.D. -- Brown University (2014)
Name: Personal
Name Part
Delaney, Sarah
Role
Role Term: Text
Director
Name: Personal
Name Part
Gerbi, Susan
Role
Role Term: Text
Reader
Name: Personal
Name Part
Freiman, Richard
Role
Role Term: Text
Reader
Name: Personal
Name Part
Zhitkovich, Anatoly
Role
Role Term: Text
Reader
Name: Personal
Name Part
Freudenreich, Catherine
Role
Role Term: Text
Reader
Name: Corporate
Name Part
Brown University. BIOMED: Molecular Biology, Cell Biology, and Biochemistry
Role
Role Term: Text
sponsor
Genre (aat)
theses
Abstract
Trinucleotide repeats (TNRs) occur throughout the genome and their expansion can affect varied cellular processes such as gene expression, mRNA processing, and protein folding. TNR expansion, facilitated by formation of stable non-canonical secondary structures (e.g. hairpins), has been linked to several neurodegenerative diseases, such as Huntington’s Disease (caused by expansion of CAG/CTG repeats) and Fragile X Syndrome (caused by expansion of CGG/CCG repeats). TNR structure and expansion has been studied in vitro using both oligonucleotides and TNRs incorporated into plasmids; however, genomic DNA is packaged into chromatin, and little is know about the effect of packaging on the ability of repetitive DNA to expand. Previous studies have shown that disease-length, expanded CAG/CTG repeats readily incorporate into the basic unit of chromatin packing, the nucleosome core particle (NCP), composed of 146 base pairs of DNA wrapped around a core of eight histone proteins. However, long CGG/CCG repeats exclude NCP formation. Here, we seek to investigate not only the properties associated with healthy-length repeats incorporated into NCPs, but also the effect of the flanking gene sequence. Additionally we investigate the behavior of a hairpin formed by CAG repeats when flanked by well-matched duplex, forming a three- way junction, and how hairpin formation can affect chromatin packaging. To assess the global forces regulating interaction between the TNRs and the histone core, we performed competitive nucleosome exchanges to determine the efficiency with which various TNR sequences incorporate into NCPs. We then used enzymatic and chemical probing to determine the effect of histone occupancy on the TNRs, including the formation of possible non-canonical structures. Understanding the intricacies underlying the interaction between unexpanded TNRs and the histone core is important to understanding how TNRs expand in the genome.
Subject
Topic
Nucleosome
Subject
Topic
DNA Hairpin
Subject (FAST) (authorityURI="http://id.worldcat.org/fast", valueURI="http://id.worldcat.org/fast/1199837")
Topic
Trinucleotide repeats
Subject (FAST) (authorityURI="http://id.worldcat.org/fast", valueURI="http://id.worldcat.org/fast/859922")
Topic
Chromatin
Record Information
Record Content Source (marcorg)
RPB
Record Creation Date (encoding="iso8601")
20141006
Language
Language Term: Code (ISO639-2B)
eng
Language Term: Text
English
Identifier: DOI
10.7301/Z0K935W9
Access Condition: rights statement (href="http://rightsstatements.org/vocab/InC/1.0/")
In Copyright
Access Condition: restriction on access
Collection is open for research.
Type of Resource (primo)
dissertations