An RNA gene expressed during cortical development evolved rapidly in humans

Katherine S. Pollard, Sofie R. Salama, Nelle Lambert, Marie-Alexandra Lambot, Sandra Coppens, Jakob S. Pedersen, Sol Katzman, Bryan King, Courtney Onodera, Adam Siepel, Andrew D. Kern, Colette Dehay, Haller Igel, Manuel Ares, Pierre Vanderhaeghen and David Haussler ()
Additional contact information
Katherine S. Pollard: Center for Biomolecular Science & Engineering
Sofie R. Salama: Center for Biomolecular Science & Engineering
Nelle Lambert: Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Free University of Brussels (ULB)
Marie-Alexandra Lambot: Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Free University of Brussels (ULB)
Sandra Coppens: Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Free University of Brussels (ULB)
Jakob S. Pedersen: Center for Biomolecular Science & Engineering
Sol Katzman: Center for Biomolecular Science & Engineering
Bryan King: Center for Biomolecular Science & Engineering
Courtney Onodera: Center for Biomolecular Science & Engineering
Adam Siepel: Center for Biomolecular Science & Engineering
Andrew D. Kern: Center for Biomolecular Science & Engineering
Colette Dehay: INSERM, U371, Stem Cell & Brain Research Institute
Haller Igel: University of California
Manuel Ares: University of California
Pierre Vanderhaeghen: Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Free University of Brussels (ULB)
David Haussler: Center for Biomolecular Science & Engineering

Nature, 2006, vol. 443, issue 7108, 167-172

Abstract: Abstract 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.

Date: 2006
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DOI: 10.1038/nature05113

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