Fig. 5: A model for HSS-relevant effects of the CHD6 mutation. | Nature Communications

Fig. 5: A model for HSS-relevant effects of the CHD6 mutation.

From: Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

Fig. 5

In individuals with wild-type CHD6 (top), co-recruitment of CHD6 and BAF/PBAF complexes to the promoters of autophagy genes ensure proper gene regulation in response to pro-autophagy and stress cues. In those carrying the I1600M mutation, the recruitment of BAF/PBAF co-factors is hindered and autophagy control is deregulated; as a result, the DNA damage response is compromised, senescent cell features emerge, and cell differentiation and specification processes can be impacted.

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