ARHGAP11B is a human-specific gene that likely played a crucial role in human neocortex evolution by inducing hallmarks of cortical expansion. In contrast to its ancestral paralog, ARHGAP11A, ARHGAP11B does not act as a Rho GTPase Activating Protein in the nucleus but is localized in mitochondria and increases glutaminolysis. This increase is a prerequisite for increased basal progenitor proliferation – one essential basis for cortical expansion.
ARHGAP11B | NOTCH2NLA | NOTCH2NLB |
---|---|---|
neocortex size ↑ | basal progenitors ↑ | apical progenitor ↑ |
cortical folding ↑ | basal intermediate progenitors ↑ | cortical progenitor proliferation ↑ |
cortical plate thickness ↑ | cortical progenitor differentiation ↓ | |
upper-layer neurons ↑ | neuronal output ↑ | |
oSVZ thickness ↑ | ||
basal progenitors ↑ | ||
basal radial glia ↑ |
ARHGAP11B | Le Pichon et al., 2010 [26] | Endris et al., 2010 [23] | Spielmann et al., 2011 [27] | Le Pichon et al., 2013 [28] | Masurel-Paulet et al., 2014 [25] |
---|---|---|---|---|---|
chr15:30,918,879–30,931,023 | chr15:30,931,644–32,914,281 | chr15:29,085,644–32,511,004 (paternal) 1 chr15:31,122,986–32,511,004 (maternal) 1 |
chr15:30,971,330–32,439,084 | chr15:30,931,644–32,914,281 | chr15:30,938,215–32,510,863 (three patients) |
This entry is adapted from the peer-reviewed paper 10.3390/cells10051209