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. 2019 Nov 13;39(1):e101112. doi: 10.15252/embj.2018101112

Figure 2. C9ORF72 gene structure, transcription, and translation.

Figure 2

Four potentially pathogenic RNA species can be discerned. (1) At the pre‐mRNA level, transcription of v1 and v3 might stall at the repeat region, resulting in the generation of abortive transcripts. (2) Transcription of the repeat region in the antisense direction generates antisense transcripts. (3) Ineffective splicing of intron 1 in transcripts v1 and v3 might result in intron 1‐retaining transcripts. (4) Effective splicing of intron 1 in transcripts v1 and v3 might generate repeat‐containing spliced‐out intron 1.