Mutations in the FUS gene cause aggressive amyotrophic lateral sclerosis (ALS-FUS). Beyond mRNA, FUS generates partially processed transcripts retaining introns 6 and 7. We demonstrate that these FUSint6&7-RNA molecules form nuclear condensates, scaffolded by the highly structured intron 7 and associated with nuclear speckles. Using hybridization-proximity labeling proteomics, we show that the FUSint6&7-RNA condensates are enriched for splicing factors and the N6-methyladenosine (m6A) reader YTHDC1. These ribonucleoprotein structures facilitate posttranscriptional FUS splicing and depend on m6A/YTHDC1 for integrity. In cells expressing mutant FUS, FUSint6&7-RNAs become hypermethylated, which in turn stimulates their condensation and splicing. We further show that FUS protein is repelled by m6A. Thus, ALS-FUS mutations may cause abnormal activation of FUS posttranscriptional splicing through altered RNA methylation. Notably, ectopic expression of FUS intron 7 sequences dissolves endogenous FUSint6&7-RNA condensates, down-regulating FUS mRNA and protein. Our findings reveal a condensation-dependent mechanism regulating FUS splicing, with possible therapeutic implications for ALS.
M6A-dependent RNA condensation underlies FUS autoregulation and can be harnessed for ALS therapy development.
M6A依赖的RNA凝聚是FUS自身调节的基础,可用于ALS治疗的开发
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作者:Huang Wan-Ping, Kumar Vedanth, Yap Karen, An Haiyan, John Sabin J, Hodgson Rachel E, Avila Anna Sanchez, Day Emily, Ellis Brittany C S, Chung Tek Hong, Lord Jenny, Müller-McNicoll Michaela, Makeyev Eugene V, Shelkovnikova Tatyana A
| 期刊: | Science Advances | 影响因子: | 12.500 |
| 时间: | 2025 | 起止号: | 2025 Jul 25; 11(30):eadx1357 |
| doi: | 10.1126/sciadv.adx1357 | 研究方向: | 其它 |
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