Year: 2025
Type: dissertation
Abstract: The (G4C2)n hexanucleotide repeat expansion in the C9ORF72 gene is the most common cause of familial ALS, thus has been extensively studied. Major gain-of-function hypotheses on C9ORF72 pathogenesis involve the toxic aggregation of RNA transcripts and accumulation of dipeptide repeat protein products. However, it remains unexplored whether higher order structures can also be observed at the DNA level. Here, I leverage Hi-C data to examine how chromosome conformation is altered in ALS neurons, and further integrate with transcriptomic and epigenetic datasets to investigate what factors may drive the observed chromosome disorganization.
DOI: 10.17615/8hbx-8y19
Author: Ellen Hu
Institution: University of North Carolina at Chapel Hill
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W6906437543
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