Article

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

2021-05-13

Abstract excerpt

The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental targets and at the facioscapulohumeral muscular dystrophy associated macro-array, D4Z4. Heightened SMCHD1 silencing perturbs developmental Hox gene activation, causing a homeoti...

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Literature Corpus work: e3ec2e06-7e7f-5218-87b9-2fdff792befc
DOI: 10.1101/2021.05.12.443934

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