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If it's not one thing, it's another

Among the many neurodegenerative diseases caused by repeat expansions, spinocerebellar ataxia type 8 (SCA8) has been something of a puzzle. Now, a new study shows that the CTG/CAG expansion in ATXN8OS (formerly SCA8) is transcribed in both directions, raising the possibility that two molecular mechanisms contribute to disease.

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Figure 1: The ATXN8OS (formerly SCA8) locus (red line) can be transcribed in either direction (blue and green lines), generating both a noncoding CUG transcript and a polyQ-encoding CAG transcript.

Kim Caesar

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Paulson, H. If it's not one thing, it's another. Nat Genet 38, 743–744 (2006). https://doi.org/10.1038/ng0706-743

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