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R-Loop f in hexanucleotide repeat in C9orf72
Description
The hexanucleotide repeat expansion (HRE) in C9orf72 consists of GGGGCC. In affected individuals the repeat expansion can measure in the hundreds and thousands. HRE forms many secondary structures, such as G-quadruplexes, I-motifs, and R-Loops.
Here the R-Loop is shown with the transcribed RNA, nucleating to the G-cluster in the HRE and extending along the GC-rich sequence.
The R-Loop in the HRE is persistent and more thermodynamically stable as a result of the high GC, leading to toxicity.
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