TY - JOUR TI - Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex AU - Florio, Marta AU - Heide, Michael AU - Pinson, Anneline AU - Brandl, Holger AU - Albert, Mareike AU - Winkler, Sylke AU - Wimberger, Pauline AU - Huttner, Wieland B AU - Hiller, Michael A2 - Gleeson, Joseph G VL - 7 PY - 2018 DA - 2018/03/21 SP - e32332 C1 - eLife 2018;7:e32332 DO - 10.7554/eLife.32332 UR - https://doi.org/10.7554/eLife.32332 AB - Understanding the molecular basis that underlies the expansion of the neocortex during primate, and notably human, evolution requires the identification of genes that are particularly active in the neural stem and progenitor cells of the developing neocortex. Here, we have used existing transcriptome datasets to carry out a comprehensive screen for protein-coding genes preferentially expressed in progenitors of fetal human neocortex. We show that 15 human-specific genes exhibit such expression, and many of them evolved distinct neural progenitor cell-type expression profiles and levels compared to their ancestral paralogs. Functional studies on one such gene, NOTCH2NL, demonstrate its ability to promote basal progenitor proliferation in mice. An additional 35 human genes with progenitor-enriched expression are shown to have orthologs only in primates. Our study provides a resource of genes that are promising candidates to exert specific, and novel, roles in neocortical development during primate, and notably human, evolution. KW - human-specific genes KW - primate-specific genes KW - neocortex development KW - neural stem cells KW - neocortex evolution KW - gene evolution JF - eLife SN - 2050-084X PB - eLife Sciences Publications, Ltd ER -