articleScienceApr 27, 2023GREEN OA

Evolutionary constraint and innovation across hundreds of placental mammals

MJMatthew J. ChristmasIMIrene M. KaplowDPDiane P. GenereuxMXMichael X. DongGMGraham M. Hughes

Uppsala University · Science for Life Laboratory · +51 more institutions

PubMed
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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,…

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Topics & keywords

Topics
Keywords
  • Constraint (computer-aided design)
  • Evolutionary biology
  • Biology
  • Biological evolution
  • Computational biology
  • Genetics
  • Mathematics
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