Aisling Coughlan

@coughlan-lab.bsky.social

Functional genomics and enhancer biology lab. Ad Astra Assistant Professor, UCD School of Medicine, Conway Institute.

Preprint alert! 🚨 We are very excited to share our new manuscript on Bohring-Opitz syndrome, a devastating rare monogenic disorder driven by truncating variants in ASXL1. This project was led by PhD student Emma Doyle, one of the OG Conway lab members 💪. 1/6 www.biorxiv.org/content/10.6...

Divergent Pathogenic PR-DUB Complex Variants Converge Functionally Via PRC2 Displacement From Chromatin

The PR-DUB complex is responsible for erasing the repressive histone modification, H2AK119ub1. ASXL1-3 proteins are mutually exclusive catalytic partners of BAP1 in the PR-DUB complex. Somatic heteroz...

biorxiv.org