Emerging role of rna-dna hybrids in c9orf72-linked neurodegeneration

Jiou Wang, Aaron R. Haeusler, Eric Aj Simko

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations


RNA plays an active role in structural polymorphism of the genome through the formation of stable RNA-DNA hybrids (R-loops). R-loops can modulate normal physiological processes and are also associated with pathological conditions, such as those related to nucleotide repeat expansions. A guanine-rich hexanucleotide repeat expansion in chromosome 9 open reading frame 72 ( C9orf72) has been linked to a spectrum of neurological conditions including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we discuss the possible roles, both locally and genome-wide, of R-loops that may arise from the C9orf72 hexanucleotide repeat. R-loops have the potential to infl uence the pathological processes identified in many repeat expansion diseases, such as repeat instability, transcriptional dysregulation, epigenetic modification, and antisense-mediated gene regulation. We propose that, given the wide-ranging consequences of R-loops in the cell, these structures could underlie multiple pathological processes in C9orf72-linked neurodegeneration.

Original languageEnglish (US)
Pages (from-to)526-532
Number of pages7
JournalCell Cycle
Issue number4
StatePublished - Feb 15 2015

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology


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