This is a unique scientific paradigm: the first publication determining the role of human -
specific gene duplications during brain development came out of our laboratory recently (Charrier et al., 2012) and represents a milestone in our understanding of the genetic and neurobiological mechanisms underlying the emergence of human - specific traits of brain development, for example neoteny during synaptic maturation (Benavides - Piccione et al., 2002; Petanjek et al., 2011).
We are currently using this new paradigm to define the expression and function of other hominoid - and human -
specific gene duplications during brain development and evolution.
The group of Dr Evan Eichler has dated the emergence of these human -
specific gene duplications to approximately 3.4 and 2.4 million years ago respectively (Dennis et al., 2012)(Figure 1A - B).
We found that the two main human -
specific gene duplications (SRGAP2B and SRGAP2C) are partial and encode a truncated F - BAR domain involved in membrane deformation.
Not exact matches
This finding suggests that the homologous region may have resulted from a
duplication of an ancestral
gene and that the two
genes evolved further by recruitment of exons from other
genes, which provided the
specific functional domains of the LDL receptor and the EGF precursor.
This has led to the hypothesis that these evolutionarily recent
gene duplications might have participated in the emergence of human -
specific traits of brain development and function (Bailey and Eichler, 2006; Stankiewicz and Lupski, 2010).
With no tell - tale signs of whole genome
duplication, the researchers say, the octopus must have instead duplicated
specific regions of its genetic code — and acquired totally novel
genes — over the course of its evolution.
Nearly three - quarters of the 1,286 animal -
specific gene families arose by
gene duplication on the metazoan stem (Supplementary Note 9).