Article
Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.
Cell stem cell - 5 Nov 2020
Long Hannah K, Osterwalder Marco, Welsh Ian C, Hansen Karissa, Davies James O J, Liu Yiran E, Koska Mervenaz, Adams Alexander T, Aho Robert, Arora Neha, Ikeda Kazuya, Williams Ruth M, Sauka-Spengler Tatjana, Porteus Matthew H, Mohun Tim, Dickel Diane E, Swigut Tomek, Hughes Jim R, Higgs Douglas R, Visel Axel, Selleri Licia, Wysocka Joanna
Abstract excerpt
Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a human stem cell differentiation model, we identify two clusters of enhancers within the PRS-associated region that regulate SOX9 expression during a restricted window of facial progenitor development at distances up to 1.45 Mb. Enhancers...
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