ArticlePLoS genetics2017
Excess of genomic defects in a woolly mammoth on Wrangel island.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed.
- Ancient DNA as a temporal lens: reconstructing evolution, migration, and disease dynamics.Journal, genetic engineering & biotechnology · 2026Review
- Massive Genetic Diversity Loss Within Asian Elephant Subspecies: New Insights for Determining Conservation Priorities.Genome biology and evolution · 2026Article
- The evolution of structural variation across 500 million years of vertebrate evolution.bioRxiv : the preprint server for biology · 2026Article
- Structural variants are enriched in deleterious visible phenotypes inGenome research · 2026Article
- A refined chronology of the Naumann's elephant (Palaeoloxodon naumanni) provides a new insight on factors of their extinction.Scientific reports · 2026Article
- The relationship between genomic variation and genetic load: insights from small island populations.Heredity · 2026Article
- Article
- Illuminating the mystery of thylacine extinction: a role for relaxed selection and gene loss.Proceedings. Biological sciences · 2025Article
- Purifying Selection Influences the Comparison of Heterozygosities between Populations.Biology · 2024Article
- Whole genomes from the extinct Xerces Blue butterfly can help identify declining insect species.eLife · 2024Article
- Genomic signatures of bottleneck and founder effects in dingoes.Ecology and evolution · 2023Article
- Genetic Incompatibilities and Evolutionary Rescue by Wild Relatives Shaped Grain Amaranth Domestication.Molecular biology and evolution · 2023Article
- Genomic footprints of bottleneck in landlocked salmon population.Scientific reports · 2023Article
- Deleterious Variation in Natural Populations and Implications for Conservation Genetics.Annual review of animal biosciences · 2023Review
- CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data.PLoS computational biology · 2022Article
- Severe inbreeding, increased mutation load and gene loss-of-function in the critically endangered Devils Hole pupfish.Proceedings. Biological sciences · 2022Article
- Genomic signatures and evolutionary history of the endangered blue-crowned laughingthrush and other Garrulax species.BMC biology · 2022Article
- Evolutionary consequences of genomic deletions and insertions in the woolly mammoth genome.iScience · 2022Article
- Genetic load: genomic estimates and applications in non-model animals.Nature reviews. Genetics · 2022Review
- Review
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2 authors.
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Abstract
Woolly mammoths (Mammuthus primigenius) populated Siberia, Beringia, and North America during the Pleistocene and early Holocene. Recent breakthroughs in ancient DNA sequencing have allowed for complete genome sequencing for two specimens of woolly mammoths (Palkopoulou et al. 2015). One mammoth specimen is from a mainland population 45,000 years ago when mammoths were plentiful. The second, a 4300 yr old specimen, is derived from an isolated population on Wrangel island where mammoths subsisted with small effective population size more than 43-fold lower than previous populations. These extreme differences in effective population size offer a rare opportunity to test nearly neutral models of genome architecture evolution within a single species. Using these previously published mammoth sequences, we identify deletions, retrogenes, and non-functionalizing point mutations. In the Wrangel island mammoth, we identify a greater number of deletions, a larger proportion of deletions affecting gene sequences, a greater number of candidate retrogenes, and an increased number of premature stop codons. This accumulation of detrimental mutations is consistent with genomic meltdown in response to low effective population sizes in the dwindling mammoth population on Wrangel island. In addition, we observe high rates of loss of olfactory receptors and urinary proteins, either because these loci are non-essential or because they were favored by divergent selective pressures in island environments. Finally, at the locus of FOXQ1 we observe two independent loss-of-function mutations, which would confer a satin coat phenotype in this island woolly mammoth.
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