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Evolutionary constraint and innovation across hundreds of placental mammals

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.
Source :
Science
Publication Year :
2023

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.

Subjects

Subjects :
Article

Details

Language :
English
Database :
OpenAIRE
Journal :
Science
Accession number :
edsair.pmid..........f225b7868f432d45ffcabbebb5203162