PT  - JOURNAL ARTICLE
AU  - Juan Moriano
AU  - Cedric Boeckx
TI  - Modern human changes in regulatory regions implicated in cortical development
AID  - 10.1101/713891
DP  - 2019 Jan 01
TA  - bioRxiv
PG  - 713891
4099  - http://biorxiv.org/content/early/2019/10/17/713891.short
4100  - http://biorxiv.org/content/early/2019/10/17/713891.full
AB  - Recent paleogenomic studies have highlighted a very small set of proteins carrying modern human-specific missense changes in comparison to our closest extinct relatives. Despite being frequently alluded to as highly relevant, species-specific differences in regulatory regions remain understudied. Here, we integrate data from paleogenomics, chromatin modification and physical interaction, and single-cell gene expression of neural progenitor cells to report a set of genes whose enhancers and/or promoters harbor modern human single nucleotide changes that appeared after the split from the Neanderthal/Denisovan lineage. These regulatory regions exert their functions at early stages of cortical development and control a set of genes among which those related to chromatin regulation stand out. This functional category has not yet figured prominently in modern human evolution studies. Specifically, we find an enrichment for the SETD1A histone methyltransferase complex, known to regulate WNT-signaling for the generation and proliferation of intermediate progenitor cells.