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Updated: Jun 28, 2025

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在人类C9orf72敲入小鼠模型中,体内和代际G4C2六核酸重复不稳定性

Nada Kojak1, Junko Kuno1, Kristina E Fittipaldi1

  • 1Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.

Nucleic acids research
|April 10, 2024
PubMed
概括

一种新的小鼠模型揭示了与ALS和FTD相关的C9orf72基因突变中G4C2重复扩张的两个机制. 不匹配修复驱动小扩张,而DNA断裂则通过同质导向修复触发大扩张.

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Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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