Beautiful work from J. Wysocka's lab out in @CellStemCell: Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder (h/t @polvere7) [Thread 1/] cell.com/cell-stem-cell…
The study shows how mandible development is sensitive to perturbation of SOX9 gene dosage 2/
"even such a slight reduction in Sox9 gene dosage results in measurable changes in lower jaw shape and reduction in postnatal growth" 3/
This has interesting implications for the evolution of the human face: [the regulatory region] "featured in this study, overlaps a Neanderthal-specific hypomethylated region from bone samples" 4/
"this suggests that the Neanderthal enhancer element might have retained regulatory activity longer during development ... compared with the human enhancer, which becomes decommissioned during chondrogenesis and is hypermethylated in human bones of various origins" 5/
This is fully in line with the great work by @David_Gokhman @meshorer1 @lirancarmel 6/
nature.com/articles/s4146…
It also meshes well with the predicted effects of BAZ1B dosage we explored in this work led by @MatteoZanella88 @polvere7 @gtesta72
advances.sciencemag.org/content/5/12/e…
Congratulations to first author @Hannah_K_Long (apologies I did not know your twitter handle); great work!
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