Article
A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.
Science advances - 1 Dec 2016
Florio Marta, Namba Takashi, Pääbo Svante, Hiller Michael, Huttner Wieland B
Abstract excerpt
The gene ARHGAP11B promotes basal progenitor amplification and is implicated in neocortex expansion. It arose on the human evolutionary lineage by partial duplication of ARHGAP11A, which encodes a Rho guanosine triphosphatase-activating protein (RhoGAP). However, a lack of 55 nucleotides in ARHGAP11B mRNA leads to loss of RhoGAP activity by GAP domain truncation and addition of a human-specific carboxy-terminal...
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