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Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.
Warren, Wesley C; Harris, R Alan; Haukness, Marina; Fiddes, Ian T; Murali, Shwetha C; Fernandes, Jason; Dishuck, Philip C; Storer, Jessica M; Raveendran, Muthuswamy; Hillier, LaDeana W; Porubsky, David; Mao, Yafei; Gordon, David; Vollger, Mitchell R; Lewis, Alexandra P; Munson, Katherine M; DeVogelaere, Elizabeth; Armstrong, Joel; Diekhans, Mark; Walker, Jerilyn A; Tomlinson, Chad; Graves-Lindsay, Tina A; Kremitzki, Milinn; Salama, Sofie R; Audano, Peter A; Escalona, Merly; Maurer, Nicholas W; Antonacci, Francesca; Mercuri, Ludovica; Maggiolini, Flavia A M; Catacchio, Claudia Rita; Underwood, Jason G; O'Connor, David H; Sanders, Ashley D; Korbel, Jan O; Ferguson, Betsy; Kubisch, H Michael; Picker, Louis; Kalin, Ned H; Rosene, Douglas; Levine, Jon; Abbott, David H; Gray, Stanton B; Sanchez, Mar M; Kovacs-Balint, Zsofia A; Kemnitz, Joseph W; Thomasy, Sara M; Roberts, Jeffrey A; Kinnally, Erin L; Capitanio, John P.
Afiliação
  • Warren WC; Department of Animal Sciences, Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA. warrenwc@missouri.edu jr13@bcm.edu eee@gs.washington.edu.
  • Harris RA; Department of Surgery, School of Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Haukness M; Institute of Data Science and Informatics, University of Missouri, Columbia, MO 65211, USA.
  • Fiddes IT; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Murali SC; Computational Genomics Laboratory, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • Fernandes J; Inscripta Inc., Boulder, CO 80301, USA.
  • Dishuck PC; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Storer JM; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Raveendran M; Department of Biomolecular Engineering, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • Hillier LW; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Porubsky D; Department of Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, USA.
  • Mao Y; Institue for Systems Biology, Seattle, WA 98109, USA.
  • Gordon D; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Vollger MR; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Lewis AP; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Munson KM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • DeVogelaere E; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Armstrong J; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Diekhans M; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Walker JA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Tomlinson C; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Graves-Lindsay TA; Computational Genomics Laboratory, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • Kremitzki M; Computational Genomics Laboratory, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • Salama SR; Computational Genomics Laboratory, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • Audano PA; Department of Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, USA.
  • Escalona M; McDonnell Genome Institute, Washington University, St. Louis, MO 63108, USA.
  • Maurer NW; McDonnell Genome Institute, Washington University, St. Louis, MO 63108, USA.
  • Antonacci F; McDonnell Genome Institute, Washington University, St. Louis, MO 63108, USA.
  • Mercuri L; Department of Biomolecular Engineering, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • Maggiolini FAM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Catacchio CR; Department of Biomolecular Engineering, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • Underwood JG; Department of Biomolecular Engineering, University of California-Santa Cruz, Santa Cruz, CA 95064, USA.
  • O'Connor DH; Department of Biology, University of Bari 'Aldo Moro', 70125 Bari, Italy.
  • Sanders AD; Department of Biology, University of Bari 'Aldo Moro', 70125 Bari, Italy.
  • Korbel JO; Department of Biology, University of Bari 'Aldo Moro', 70125 Bari, Italy.
  • Ferguson B; Department of Biology, University of Bari 'Aldo Moro', 70125 Bari, Italy.
  • Kubisch HM; Pacific Biosciences of California, Seattle, WA 94025, USA.
  • Picker L; Department of Pathology and Laboratory Medicine, Wisconsin National Primate Research Center, University of Wisconsin-Madison, Madison, WI 53711, USA.
  • Kalin NH; European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany.
  • Rosene D; European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany.
  • Levine J; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR 97006, USA.
  • Abbott DH; Tulane National Primate Research Center, Covington, LA 70433, USA.
  • Gray SB; Oregon National Primate Research Center and Vaccine and Gene Therapy Institute, Oregon Health Sciences University, Beaverton, OR 97006, USA.
  • Sanchez MM; Department of Psychiatry, University of Wisconsin School of Medicine and Public Health, Madison, WI 53719, USA.
  • Kovacs-Balint ZA; Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02118, USA.
  • Kemnitz JW; Department of Neuroscience, University of Wisconsin, Madison, WI 53175, USA.
  • Thomasy SM; Wisconsin National Primate Research Center, University of Wisconsin, Madison, WI 53171, USA.
  • Roberts JA; Wisconsin National Primate Research Center, University of Wisconsin, Madison, WI 53171, USA.
  • Kinnally EL; Department of Obstetrics and Gynecology, Wisconsin National Primate Research Center, University of Wisconsin, Madison, WI 53715, USA.
  • Capitanio JP; The University of Texas MD Anderson Cancer Center, Michale E. Keeling Center for Comparative Medicine and Research, Bastrop, TX 78602, USA.
Science ; 370(6523)2020 12 18.
Article em En | MEDLINE | ID: mdl-33335035
The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Macaca mulatta Limite: Animals / Humans Idioma: En Revista: Science Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Macaca mulatta Limite: Animals / Humans Idioma: En Revista: Science Ano de publicação: 2020 Tipo de documento: Article