Extended Data Fig. 10: Proposed model explaining the induction of interferon signaling secondary to mutations in LSM11 or RNU7-1 (AGS8/9). | Nature Genetics

Extended Data Fig. 10: Proposed model explaining the induction of interferon signaling secondary to mutations in LSM11 or RNU7-1 (AGS8/9).

From: cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Extended Data Fig. 10: Proposed model explaining the induction of interferon signaling secondary to mutations in LSM11 or RNU7-1 (AGS8/9).

The U7 snRNP complex is essential for the processing of RDH pre-mRNAs in histone locus bodies (HLB). Mutations in LSM11 and RNU7-1 result in disturbed histone stoichiometry (perhaps particularly relating to linker histones), leading to increased binding of cGAS (green dots) to nuclear DNA and/or enhanced cGAS activation, and the subsequent induction of interferon signaling.

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