SRGAP2 (SLIT-ROBO Rho GTPase activating protein 2)
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SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2) directly regulates membrane deformation for proper neuronal migration and axon-dendrite morphogenesis. The human lineage underwent 3 partial duplication events, of which 1 is fixed and the other two remain polymorphic within the human population. The partial copies act as an inhibitor of the full length SRGAP2 protein, which results in delayed neuronal spine maturation and increased density of the longer spines. These duplication events are hypothesize to have resulted in human specific changes to the neocortex.
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication., , Cell, 2012 May 11, Volume 149, Issue 4, p.912-22, (2012)
Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation., , Cell, 2012 May 11, Volume 149, Issue 4, p.923-35, (2012)
Diversity of human copy number variation and multicopy genes., , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
The F-BAR domain of srGAP2 induces membrane protrusions required for neuronal migration and morphogenesis., , Cell, 2009 Sep 4, Volume 138, Issue 5, p.990-1004, (2009)
Lineage-specific gene duplication and loss in human and great ape evolution., , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)