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

Author

Listed:
  • Cory Y. McLean

    (Stanford University)

  • Philip L. Reno

    (Stanford University School of Medicine
    Howard Hughes Medical Institute, Stanford University School of Medicine
    Present address: Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16801, USA (P.L.R.); Department of Genetics, University of Georgia, Athens, Georgia 30602, USA (D.B.M.).)

  • 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
    Howard Hughes Medical Institute, Stanford University School of Medicine)

  • Vahan B. Indjeian

    (Stanford University School of Medicine
    Howard Hughes Medical Institute, Stanford University School of Medicine)

  • Xinhong Lim

    (Stanford University School of Medicine)

  • Douglas B. Menke

    (Stanford University School of Medicine
    Howard Hughes Medical Institute, Stanford University School of Medicine
    Present address: Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16801, USA (P.L.R.); Department of Genetics, University of Georgia, Athens, Georgia 30602, USA (D.B.M.).)

  • Bruce T. Schaar

    (Stanford University School of Medicine)

  • Aaron M. Wenger

    (Stanford University)

  • Gill Bejerano

    (Stanford University
    Stanford University School of Medicine)

  • David M. Kingsley

    (Stanford University School of Medicine
    Howard Hughes Medical Institute, Stanford University School of Medicine)

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.

Suggested Citation

  • 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. Wenge, 2011. "Human-specific loss of regulatory DNA and the evolution of human-specific traits," Nature, Nature, vol. 471(7337), pages 216-219, March.
    • Handle: RePEc:nat:nature:v:471:y:2011:i:7337:d:10.1038_nature09774
    DOI: 10.1038/nature09774
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    Cited by:

    1. Felix M Key & Benjamin Peter & Megan Y Dennis & Emilia Huerta-Sánchez & Wei Tang & Ludmila Prokunina-Olsson & Rasmus Nielsen & Aida M Andrés, 2014. "Selection on a Variant Associated with Improved Viral Clearance Drives Local, Adaptive Pseudogenization of Interferon Lambda 4 (IFNL4)," PLOS Genetics, Public Library of Science, vol. 10(10), pages 1-12, October.

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