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Genetics and the making of Homo sapiens

Abstract

Understanding the genetic basis of the physical and behavioural traits that distinguish humans from other primates presents one of the great new challenges in biology. Of the millions of base-pair differences between humans and chimpanzees, which particular changes contributed to the evolution of human features after the separation of the Pan and Homo lineages 5–7 million years ago? How can we identify the ‘smoking guns’ of human genetic evolution from neutral ticks of the molecular evolutionary clock? The magnitude and rate of morphological evolution in hominids suggests that many independent and incremental developmental changes have occurred that, on the basis of recent findings in model animals, are expected to be polygenic and regulatory in nature. Comparative genomics, population genetics, gene-expression analyses and medical genetics have begun to make complementary inroads into the complex genetic architecture of human evolution.

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Figure 1: The timescale and phylogeny of hominids.
Figure 2: Comparative neuroanatomy of humans and chimpanzees.

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Acknowledgements

Thanks to B. Hopkins and C. Cantalupo for guidance on Fig. 2, and to L. Olds for illustrations; to B. Williams, A. Kopp, S. Paddock, A. Rokas, D. Bownds, J. Doebley, N. Shubin and J. Crow for comments on the manuscript; to P., N. and J. Carroll for inspiration, and to J. Carroll for preparation of the manuscript. S.B.C. is an Investigator of the Howard Hughes Medical Institute.

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Carroll, S. Genetics and the making of Homo sapiens. Nature 422, 849–857 (2003). https://doi.org/10.1038/nature01495

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