4.8 Article

An RNA gene expressed during cortical development evolved rapidly in humans

Journal

NATURE
Volume 443, Issue 7108, Pages 167-172

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/nature05113

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Funding

  1. NIGMS NIH HHS [R01 GM040478] Funding Source: Medline

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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.

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