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Transcriptomic convergence and the female protective effect in autism.
Nature · · Journal Article · Open access
Andersen, Talukdar + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
Disrupting 18 ASD genes in human neural progenitor cells converges on shared transcriptomic effects, including widespread downregulation of other ASD genes.
- Why it matters: The field lacks a mechanistic explanation for how diverse, individually rare ASD gene disruptions produce core ASD biology and for the female protective effect.
- What they did: The study reconstructed a gene regulatory network from de novo data to identify central transcriptional regulators driving convergence, highlighting CHD8 and candidates like REST. It also implicated X-linked ZFX as a key activator of many ASD genes.
- The result: Higher ZFX expression in the female brain is proposed to buffer damaging mutations across diverse ASD genes, offering molecular insight into the female protective effect.
The findingWhy it mattersWhat they didThe result
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- Open access
- 9 cites