High-resolution comparative analysis of great ape genomes-Reference-Cited by-同舟云学术

High-resolution comparative analysis of great ape genomes

Published:2018-06-08 Issue:6393 Volume:360 Page:
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Kronenberg Zev N.¹,Fiddes Ian T.²^ORCID,Gordon David¹³^ORCID,Murali Shwetha¹³,Cantsilieris Stuart¹,Meyerson Olivia S.⁴^ORCID,Underwood Jason G.¹⁵,Nelson Bradley J.¹^ORCID,Chaisson Mark J. P.¹⁶,Dougherty Max L.¹^ORCID,Munson Katherine M.¹^ORCID,Hastie Alex R.⁷^ORCID,Diekhans Mark²^ORCID,Hormozdiari Fereydoun⁸,Lorusso Nicola⁹^ORCID,Hoekzema Kendra¹,Qiu Ruolan¹,Clark Karen¹⁰,Raja Archana¹³,Welch AnneMarie E.¹,Sorensen Melanie¹^ORCID,Baker Carl¹,Fulton Robert S.¹¹,Armstrong Joel²^ORCID,Graves-Lindsay Tina A.¹¹,Denli Ahmet M.¹²^ORCID,Hoppe Emma R.¹^ORCID,Hsieh PingHsun¹^ORCID,Hill Christopher M.¹^ORCID,Pang Andy Wing Chun⁷^ORCID,Lee Joyce⁷^ORCID,Lam Ernest T.⁷,Dutcher Susan K.¹¹^ORCID,Gage Fred H.¹²^ORCID,Warren Wesley C.¹¹^ORCID,Shendure Jay¹³^ORCID,Haussler David²¹³^ORCID,Schneider Valerie A.¹⁰,Cao Han⁷^ORCID,Ventura Mario⁹^ORCID,Wilson Richard K.¹¹,Paten Benedict²,Pollen Alex⁴¹⁴^ORCID,Eichler Evan E.¹³^ORCID

Affiliation:

1. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

2. UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.

3. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

4. Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.

5. Pacific Biosciences (PacBio) of California, Inc., Menlo Park, CA 94025, USA.

6. Computational Biology and Bioinformatics, University of Southern California, Los Angeles, CA 90089, USA.

7. Bionano Genomics, San Diego, CA 92121, USA.

8. Department of Biochemistry and Molecular Medicine, University of California, Davis, Davis, CA 95817, USA.

9. Department of Biology, University of Bari, Aldo Moro, Bari 70121, Italy.

10. National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.

11. Departments of Medicine and Genetics, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA.

12. The Salk Institute for Biological Studies, La Jolla, CA 92037, USA.

13. Howard Hughes Medical Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.

14. Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA.

Abstract

A spotlight on great ape genomes Most nonhuman primate genomes generated to date have been “humanized” owing to their many gaps and the reliance on guidance by the reference human genome. To remove this humanizing effect, Kronenberg et al. generated and assembled long-read genomes of a chimpanzee, an orangutan, and two humans and compared them with a previously generated gorilla genome. This analysis recognized genomic structural variation specific to humans and particular ape lineages. Comparisons between human and chimpanzee cerebral organoids showed down-regulation of the expression of specific genes in humans, relative to chimpanzees, related to noncoding variation identified in this analysis. Science , this issue p. eaar6343

Funder

National Institutes of Health

Ministero dell’Istruzione, dell’Università e della Ricerca

Howard Hughes Medical Institute

National Health and Medical Research Council

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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