Human-specific loss of regulatory DNA and the evolution of human-specific traits

Cory Y. McLean, Philip L. Reno, Alex A. Pollen, Abraham I. Bassan, Terence D. Capellini, Catherine Guenther, Vahan B. Indjeian, Xinhong Lim, Douglas B. Menke, Bruce T. Schaar, Aaron M. Wenger, Gill Bejerano () and David M. Kingsley ()
Additional contact information
Cory Y. McLean: Stanford University
Philip L. Reno: Stanford University School of Medicine
Alex A. Pollen: Stanford University School of Medicine
Abraham I. Bassan: Stanford University School of Medicine
Terence D. Capellini: Stanford University School of Medicine
Catherine Guenther: Stanford University School of Medicine
Vahan B. Indjeian: Stanford University School of Medicine
Xinhong Lim: Stanford University School of Medicine
Douglas B. Menke: Stanford University School of Medicine
Bruce T. Schaar: Stanford University School of Medicine
Aaron M. Wenger: Stanford University
Gill Bejerano: Stanford University
David M. Kingsley: Stanford University School of Medicine

Nature, 2011, vol. 471, issue 7337, 216-219

Abstract: The lost DNA that makes us human A computational survey of the human genome has identified more than 500 human-specific genomic deletions that remove sequences that are highly conserved between chimpanzees and other animals. These are genomic changes that are likely to have contributed to unique features of human biology. Most of the deleted sequences are located in the non-coding regions of the genome. The human deletions are enriched near genes involved in neural development and steroid hormone signalling, consistent with previous suggestions that regulatory changes near key developmental control genes may have important roles in human evolution. Specific examples of human-specific deletions include one that affects penile anatomy and another relating to brain size.

Date: 2011
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DOI: 10.1038/nature09774

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