Evolutionary consequences of genomic deletions and insertions in the woolly mammoth genome

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  • Tom van der Valk
  • Marianne Dehasque
  • J. Camilo Chacón-Duque
  • Nikolay Oskolkov
  • Sergey Vartanyan
  • Peter D. Heintzman
  • Chrzanová Pecnerová, Patrícia
  • David Díez-del-Molino
  • Love Dalén

Woolly mammoths had a set of adaptations that enabled them to thrive in the Arctic environment. Many mammoth-specific single nucleotide polymorphisms (SNPs) responsible for unique mammoth traits have been previously identified from ancient genomes. However, a multitude of other genetic variants likely contributed to woolly mammoth evolution. In this study, we sequenced two woolly mammoth genomes and combined these with previously sequenced mammoth and elephant genomes to conduct a survey of mammoth-specific deletions and indels. We find that deletions are highly enriched in non-coding regions, suggesting selection against structural variants that affect protein sequences. Nonetheless, at least 87 woolly mammoth genes contain deletions or indels that modify the coding sequence, including genes involved in skeletal morphology and hair growth. These results suggest that deletions and indels contributed to the unique phenotypic adaptations of the woolly mammoth, and were potentially critical to surviving in its natural environment.

Original languageEnglish
Article number104826
JournaliScience
Volume25
Issue number8
Number of pages11
ISSN2589-0042
DOIs
Publication statusPublished - 2022

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© 2022 The Author(s)

    Research areas

  • Bioinformatics, Biological sciences, Evolutionary biology, Natural sciences, Phylogenetics, Zoology

ID: 321949662