New preprint 📣! Excited to share the result of several years of work, led by @ellylewerissa.bsky.social & @olivieroleonardi.bsky.social, in collaboration with friends @naelnadifkasri-lab.bsky.social & Giuseppe Testa. On CHD2, a chromatin remodeller, its role in evolution & development [🧵] 🧪🧠🧫🧬 - ThreadSky

cedricboeckx.bsky.social • 33 days ago

New preprint 📣! Excited to share the result of several years of work, led by @ellylewerissa.bsky.social & @olivieroleonardi.bsky.social, in collaboration with friends @naelnadifkasri-lab.bsky.social & Giuseppe Testa. On CHD2, a chromatin remodeller, its role in evolution & development [🧵]
🧪🧠🧫🧬

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cedricboeckx.bsky.social•33 days ago

In one sentence (but see 🧵 for details): we show that CHD2 dosage critically regulates the autolysosomal pathway, which in turn impacts neurodevelopmental tempo. This matters for disease (epilepsy/autism), but also for evolution (neoteny/bradychrony)
https://www.biorxiv.org/content/10.1101/2025.01.21.634145v1

cedricboeckx.bsky.social•33 days ago

The relatively slow pace of cortical development in humans has long been thought to have made a big difference in making us ... us.

cedricboeckx.bsky.social•33 days ago

A lot of great work has been done on this topic; @felinewlindhout.bsky.social @lancasterlab.bsky.social and
@brainevodevo.bsky.social @jenellewallace.bsky.social have nice recent reviews on this topic:
https://www.nature.com/articles/s41586-024-07521-x
https://www.nature.com/articles/s41583-023-00760-3

cedricboeckx.bsky.social•33 days ago

But experimental work has mostly focused on differences between us and mice, or between us and chimpanzees. Was there a tempo difference between us and our closely extinct relatives, the Neandertals and Denisovans?

cedricboeckx.bsky.social•33 days ago

Building on work I did with Juan Moriano, and with @kuhlwilm.bsky.social, we zoom in on a single nucleotide variant, virtually fixed in contemporary human populations, which resides in an enhancer region active during early cortical development
https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-6706-x

cedricboeckx.bsky.social•33 days ago

The variant is predicted to significantly affect CHD2 expression, a chromatin remodeller known to play an important role in neural development: CHD2 haploinsufficiency is associated with epilepsy and autism

dizachster.bsky.social•33 days ago

Congrats! I'll try to work this into my new seminar that asks 'is the human brain special?' 🤔

cedricboeckx.bsky.social•33 days ago

Thanks so much!

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