Publication Type: Journal Article
Authors: 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; Birren, Bruce W; Gazal, Steven; Hubley, Robert M; Koepfli, Klaus-Peter; Marques-Bonet, Tomas; Meyer, Wynn K; Nweeia, Martin; Sabeti, Pardis C; Shapiro, Beth; Smit, Arian F A; Springer, Mark S; Teeling, Emma C; Weng, Zhiping; Hiller, Michael; Levesque, Danielle L; Lewin, Harris A; Murphy, William J; Navarro, Arcadi; Paten, Benedict; Pollard, Katherine S; Ray, David A; Ruf, Irina; Ryder, Oliver A; Pfenning, Andreas R; Lindblad-Toh, Kerstin; Karlsson, Elinor K
Corporate Author: Zoonomia Consortium§
Year of Publication: 2023
Journal: Science
Volume: 380
Issue: 6643
Pagination: eabn3943
Date Published: 2023 Apr 28
Publication Language: eng
ISSN: 1095-9203
Keywords: Animals, Conserved Sequence, Eutheria, Evolution, Molecular, Female, Genome, Human, Humans
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.
DOI: 10.1126/science.abn3943
Alternate Journal: Science
