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/
Two new papers that I enjoyed working on and that provide further evidence for the special role played by the #cerebellum (and subcortical structures) in the evolution of our lineage are out 🧠🧵
Thanks @TavernaElena for the invitation to contribute to the volume she is co-editing, and to @david_machugh and @FabriMafe for very thoughtful comments during the reviewing process. They made the paper better.
Kaz Okanoya has done extensive work documenting differences between the songs of the domesticated Bengalese finch and the songs of its wild relative, the white-dumped munia.
Various measures point to increased variability and 'complexity' in the song of the Bengalese finch.
We built on work @Thomas_ORourke and I did showing that the glutamate neurotransmitter system is disproportionately targeted in the evolution of domesticates: sciencedirect.com/science/articl…
We decided to take a closer look at the the four major regions of the human genome depleted of Neanderthal introgression presented in Chen et al (overlapping with those identified in previous work by @melanoidin) sciencedirect.com/science/articl…
Looking at the brain expression of genes found in these regions, compared to other regions, we found the highest transcriptomic divergence in the cerebellum, the striatum & the prenatal thalamus (intriguing, given the expression profile of #FOXP2, found in one of these regions)
We find evidence for very early mutations impacting the facial phenotype, and much more recent molecular events linked to specific brain regions such as the cerebellum or the precuneus. 2/
I enjoyed working on this with my students @AGMAndirko & @juanandres_mp in otherwise difficult circumstances (lockdowns). They are terrific researchers. I am thankful for the opportunity to work again with friends @MKuhlwilm@polvere7@gtesta72, the best part of the job, IMO. 3/
Very cool comparative cognition study (h/t @Limor_Raviv) making “the case for the universality of the sequence organization observable in informal human conversational interaction” 1/
My favorite part comes at the end, where the authors note “one of the most basic units of human social interaction, ..., has apparent homologs in the social interaction of nonhuman primates” but 2/
they find “the more elaborate structures that occur in human interaction” lacking in our closest living relatives. Why? “non-human primates appear to be limited in their ability to learn and represent the hierarchical structure of sequences” 3/