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标题：Evolutionary consequences of genomic deletions and insertions in the woolly mammoth genome
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作者：Tom van der Valk ; Marianne Dehasque ; J. Camilo Chacón-Duque 等
期刊名称：iScience
印刷版ISSN：2589-0042
出版年度：2022
卷号：25
期号：8
页码：1-12
DOI：10.1016/j.isci.2022.104826
语种：English
出版社：Elsevier
摘要：SummaryWoolly 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.Graphical abstractDisplay OmittedHighlights•Two new high-quality woolly mammoth genomes have been generated•A new method was used to identify deletions and insertions in woolly mammoths•At least 87 genes have been affected by deletions or indels in the mammoth lineage•Genes involved in skeletal morphology and hair growth are affected by deletionsNatural sciences; Biological sciences; Zoology; Evolutionary biology; Phylogenetics; Bioinformatics