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Fig. 5 | Acta Neuropathologica Communications

Fig. 5

From: Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Fig. 5

Model of expanded C9orf72 transcripts processing explaining the main pathological features of c9ALS/FTD. Retention of intron 1 generates a C9orf72 mRNA with an enlarged 5’-UTR containing the G4C2 repeat sequence. The majority of intron 1-retaining C9orf72 mRNA accumulates in the nucleus where it is targeted to a specific degradation pathway unable to process G4C2 RNA repeats that subsequently aggregate into foci. A small proportion of intron 1-retaining C9orf72 mRNA is exported to the cytoplasm for RAN translation into DPRs

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Acta Neuropathologica Communications

ISSN: 2051-5960

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