Reference : Evolution and cell-type specificity of human-specific genes preferentially expressed ...
Scientific journals : Article
Human health sciences : Neurology
Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex.
Florio, Marta* [> >]
Heide, Michael* [> >]
Pinson, Anneline mailto [Université de Liège - ULiège > > >]
Brandl, Holger [> >]
Albert, Mareike [> >]
Winkler, Sylke [> >]
Wimberger, Pauline [> >]
Huttner, Wieland B.* [> >]
Hiller, Michael* [> >]
* These authors have contributed equally to this work.
eLife Sciences Publications
Yes (verified by ORBi)
United Kingdom
[en] Animals ; Cell Proliferation/genetics ; Embryonic Stem Cells/cytology/metabolism ; Evolution, Molecular ; Gene Expression Profiling ; Gene Expression Regulation, Developmental ; Humans ; Neocortex/cytology/embryology/metabolism ; Neural Stem Cells/cytology/metabolism ; Neurogenesis/genetics ; Neurons/cytology/metabolism ; Primates/classification/genetics ; Receptor, Notch2/genetics ; Species Specificity ; developmental biology ; gene evolution ; human ; human-specific genes ; mouse ; neocortex development ; neocortex evolution ; neural stem cells ; neuroscience ; primate-specific genes ; stem cells
[en] 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.
© 2018, Florio et al.

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