Federica Mosti

Intraspecific sequence variation and complete genomes refine the identification of rapidly evolved regions in humans Humans exhibit significant phenotypic differences from other great apes, yet pinpointing the underlying genetic changes has been limited by incomplete reference genomes and a reliance on single assemb...

“Intraspecific sequence variation and complete genomes refine the identification of rapidly evolved regions in humans”
New work on HAQERs, by
@rimangan.bsky.social Yanting Luo Craig Lowe @debbysilver.bsky.social @manoliskellis.bsky.social & colleagues
🧪🧬

www.biorxiv.org/content/10.1...

Sharing our newest study led by the incredibly talented @federicamosti.bsky.social investigating new molecular mechanisms of human brain development. We discover a human-specific enhancer HAR1984 that influences chromatin looping to promote cortical size and folding! www.biorxiv.org/cgi/content/...

Thanks Cedric!

Mice grow bigger brains when given this stretch of human DNA Finding adds to the bigger picture of how humans developed such large brains.

Taking a snippet of genetic code that is unique to humans and inserting it into mice helps them grow bigger brains than usual

https://go.nature.com/3GOTQkz

Amazing work from the Silver Lab! Grateful to have been part of such meaningful story!

Happy to see my PhD work in the Fleischmann lab at Brown University @carneyinstitute.bsky.social published in
@natureneuro.bsky.social! -Single-cell genomics of the mouse olfactory cortex reveals contrasts with neocortex and ancestral signatures of cell type evolution nature.com/articles/s41...

Thanks Dmitry!

Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations Author summary DDX3X mutations are associated with neurodevelopmental disorders, including DDX3X syndrome and autism spectrum disorder. DDX3X is an RNA binding protein whose loss of function impairs b...

Happy to share some good news today, and our latest study on DDX3X! Led by super talented @federicamosti.bsky.social we use live imaging, transcriptomics and interaction studies to define how clinically diverse missense mutations in DDX3X influence neural development. dx.plos.org/10.1371/jour...