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

van der Valk, Tom ; Dehasque, Marianne ; Chacón-Duque, J. Camilo ; Oskolkov, Nikolay LU ; Vartanyan, Sergey ; Heintzman, Peter D. ; Pečnerová, Patrícia ; Díez-del-Molino, David and Dalén, Love LU (2022) In iScience 25(8).
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Bioinformatics, Biological sciences, Evolutionary biology, Natural sciences, Phylogenetics, Zoology
in
iScience
volume
25
issue
8
article number
104826
publisher
Elsevier
external identifiers
  • pmid:35992080
  • scopus:85135699106
ISSN
2589-0042
DOI
10.1016/j.isci.2022.104826
language
English
LU publication?
yes
id
3d1f8e25-b3af-4749-8837-f7bc1d3f8827
date added to LUP
2022-10-07 13:13:57
date last changed
2024-04-18 14:49:09
@article{3d1f8e25-b3af-4749-8837-f7bc1d3f8827,
  abstract     = {{<p>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.</p>}},
  author       = {{van der Valk, Tom and Dehasque, Marianne and Chacón-Duque, J. Camilo and Oskolkov, Nikolay and Vartanyan, Sergey and Heintzman, Peter D. and Pečnerová, Patrícia and Díez-del-Molino, David and Dalén, Love}},
  issn         = {{2589-0042}},
  keywords     = {{Bioinformatics; Biological sciences; Evolutionary biology; Natural sciences; Phylogenetics; Zoology}},
  language     = {{eng}},
  number       = {{8}},
  publisher    = {{Elsevier}},
  series       = {{iScience}},
  title        = {{Evolutionary consequences of genomic deletions and insertions in the woolly mammoth genome}},
  url          = {{http://dx.doi.org/10.1016/j.isci.2022.104826}},
  doi          = {{10.1016/j.isci.2022.104826}},
  volume       = {{25}},
  year         = {{2022}},
}