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Evolutionary constraint and innovation across hundreds of placental mammals.
Christmas, Matthew J; Kaplow, Irene M; Genereux, Diane P; Dong, Michael X; Hughes, Graham M; Li, Xue; Sullivan, Patrick F; Hindle, Allyson G; Andrews, Gregory; Armstrong, Joel C; Bianchi, Matteo; Breit, Ana M; Diekhans, Mark; Fanter, Cornelia; Foley, Nicole M; Goodman, Daniel B; Goodman, Linda; Keough, Kathleen C; Kirilenko, Bogdan; Kowalczyk, Amanda; Lawless, Colleen; Lind, Abigail L; Meadows, Jennifer R S; Moreira, Lucas R; Redlich, Ruby W; Ryan, Louise; Swofford, Ross; Valenzuela, Alejandro; Wagner, Franziska; Wallerman, Ola; Brown, Ashley R; Damas, Joana; Fan, Kaili; Gatesy, John; Grimshaw, Jenna; Johnson, Jeremy; Kozyrev, Sergey V; Lawler, Alyssa J; Marinescu, Voichita D; Morrill, Kathleen M; Osmanski, Austin; Paulat, Nicole S; Phan, BaDoi N; Reilly, Steven K; Schäffer, Daniel E; Steiner, Cynthia; Supple, Megan A; Wilder, Aryn P; Wirthlin, Morgan E; Xue, James R.
Afiliação
  • Christmas MJ; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University, 751 32 Uppsala, Sweden.
  • Kaplow IM; Department of Computational Biology, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
  • Genereux DP; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
  • Dong MX; Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA.
  • Hughes GM; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University, 751 32 Uppsala, Sweden.
  • Li X; School of Biology and Environmental Science, University College Dublin, Belfield, Dublin 4, Ireland.
  • Sullivan PF; Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA.
  • Hindle AG; Morningside Graduate School of Biomedical Sciences, UMass Chan Medical School, Worcester, MA 01605, USA.
  • Andrews G; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School, Worcester, MA 01605, USA.
  • Armstrong JC; Department of Genetics, University of North Carolina Medical School, Chapel Hill, NC 27599, USA.
  • Bianchi M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
  • Breit AM; School of Life Sciences, University of Nevada Las Vegas, Las Vegas, NV 89154, USA.
  • Diekhans M; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School, Worcester, MA 01605, USA.
  • Fanter C; Genomics Institute, University of California Santa Cruz, Santa Cruz, CA 95064, USA.
  • Foley NM; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University, 751 32 Uppsala, Sweden.
  • Goodman DB; School of Biology and Ecology, University of Maine, Orono, ME 04469, USA.
  • Goodman L; Genomics Institute, University of California Santa Cruz, Santa Cruz, CA 95064, USA.
  • Keough KC; School of Life Sciences, University of Nevada Las Vegas, Las Vegas, NV 89154, USA.
  • Kirilenko B; Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843, USA.
  • Kowalczyk A; Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143, USA.
  • Lawless C; Fauna Bio, Inc., Emeryville, CA 94608, USA.
  • Lind AL; Fauna Bio, Inc., Emeryville, CA 94608, USA.
  • Meadows JRS; Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94158, USA.
  • Moreira LR; Gladstone Institutes, San Francisco, CA 94158, USA.
  • Redlich RW; Faculty of Biosciences, Goethe-University, 60438 Frankfurt, Germany.
  • Ryan L; LOEWE Centre for Translational Biodiversity Genomics, 60325 Frankfurt, Germany.
  • Swofford R; Senckenberg Research Institute, 60325 Frankfurt, Germany.
  • Valenzuela A; Department of Computational Biology, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
  • Wagner F; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
  • Wallerman O; School of Biology and Environmental Science, University College Dublin, Belfield, Dublin 4, Ireland.
  • Brown AR; Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94158, USA.
  • Damas J; Gladstone Institutes, San Francisco, CA 94158, USA.
  • Fan K; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University, 751 32 Uppsala, Sweden.
  • Gatesy J; Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA.
  • Grimshaw J; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School, Worcester, MA 01605, USA.
  • Johnson J; Department of Biological Sciences, Mellon College of Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
  • Kozyrev SV; School of Biology and Environmental Science, University College Dublin, Belfield, Dublin 4, Ireland.
  • Lawler AJ; Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA.
  • Marinescu VD; Department of Experimental and Health Sciences, Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra, 08003 Barcelona, Spain.
  • Morrill KM; Museum of Zoology, Senckenberg Natural History Collections Dresden, 01109 Dresden, Germany.
  • Osmanski A; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University, 751 32 Uppsala, Sweden.
  • Paulat NS; Department of Computational Biology, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
  • Phan BN; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
  • Reilly SK; The Genome Center, University of California Davis, Davis, CA 95616, USA.
  • Schäffer DE; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School, Worcester, MA 01605, USA.
  • Steiner C; Division of Vertebrate Zoology, American Museum of Natural History, New York, NY 10024, USA.
  • Supple MA; Department of Biological Sciences, Texas Tech University, Lubbock, TX 79409, USA.
  • Wilder AP; Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA.
  • Wirthlin ME; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University, 751 32 Uppsala, Sweden.
  • Xue JR; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
Science ; 380(6643): eabn3943, 2023 04 28.
Article em En | MEDLINE | ID: mdl-37104599
ABSTRACT
Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect fitness and alter disease risk. At least 332 million bases (~10.7%) in the human genome are unusually conserved across species (evolutionarily constrained) relative to neutrally evolving repeats, and 4552 ultraconserved elements are nearly perfectly conserved. Of 101 million significantly constrained single bases, 80% are outside protein-coding exons and half have no functional annotations in the Encyclopedia of DNA Elements (ENCODE) resource. Changes in genes and regulatory elements are associated with exceptional mammalian traits, such as hibernation, that could inform therapeutic development. Earth's vast and imperiled biodiversity offers distinctive power for identifying genetic variants that affect genome function and organismal phenotypes.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Evolução Molecular / Eutérios Limite: Animals / Female / Humans Idioma: En Revista: Science Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suécia
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Evolução Molecular / Eutérios Limite: Animals / Female / Humans Idioma: En Revista: Science Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suécia