Wednesday, August 23, 2006

An RNA gene expressed during cortical development evolved rapidly in humans

I can't say it any better than the abstract by Pollard et al. does:

"The developmental and evolutionary mechanisms behind the emergence of human-specific brain features remain largely unknown. However, the recent ability to compare our genome to that of our closest relative, the chimpanzee, provides new avenues to link genetic and phenotypic changes in the evolution of the human brain. We devised a ranking of regions in the human genome that show significant evolutionary acceleration. Here we report that the most dramatic of these 'human accelerated regions', HAR1, is part of a novel RNA gene (HAR1F) that is expressed specifically in Cajal–Retzius neurons in the developing human neocortex from 7 to 19 gestational weeks, a crucial period for cortical neuron specification and migration. HAR1F is co-expressed with reelin, a product of Cajal–Retzius neurons that is of fundamental importance in specifying the six-layer structure of the human cortex. HAR1 and the other human accelerated regions provide new candidates in the search for uniquely human biology."

The work suggests that protein-coding genes may not be the movers and shakers of human evolution. Rather, the non-coding 'dark matter' of genomes may harbour most of these vital changes, such as the set of 49 HAR regions - with HAR1 having accrued 18 changes in sequence since our divergence from chimpanzees, whereas only 1 or 2 substitutions would have been expected by chance.

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