Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth
Woolly mammoths were among the most abundant cold-adapted species during the Pleistocene. Their once-large populations went extinct in two waves, an end-Pleistocene extinction of continental populations followed by the mid-Holocene extinction of relict populations on St. Paul Island ∼5,600 years ago...
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Online Access: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7094797/ http://www.ncbi.nlm.nih.gov/pubmed/32031213 https://doi.org/10.1093/gbe/evz279 |
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ftpubmed:oai:pubmedcentral.nih.gov:7094797 2023-05-15T18:44:22+02:00 Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth Fry, Erin Kim, Sun K Chigurapti, Sravanthi Mika, Katelyn M Ratan, Aakrosh Dammermann, Alexander Mitchell, Brian J Miller, Webb Lynch, Vincent J 2020-02-07 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7094797/ http://www.ncbi.nlm.nih.gov/pubmed/32031213 https://doi.org/10.1093/gbe/evz279 en eng Oxford University Press http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7094797/ http://www.ncbi.nlm.nih.gov/pubmed/32031213 http://dx.doi.org/10.1093/gbe/evz279 © The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. CC-BY Research Article Text 2020 ftpubmed https://doi.org/10.1093/gbe/evz279 2020-04-05T00:38:25Z Woolly mammoths were among the most abundant cold-adapted species during the Pleistocene. Their once-large populations went extinct in two waves, an end-Pleistocene extinction of continental populations followed by the mid-Holocene extinction of relict populations on St. Paul Island ∼5,600 years ago and Wrangel Island ∼4,000 years ago. Wrangel Island mammoths experienced an episode of rapid demographic decline coincident with their isolation, leading to a small population, reduced genetic diversity, and the fixation of putatively deleterious alleles, but the functional consequences of these processes are unclear. Here, we show that a Wrangel Island mammoth genome had many putative deleterious mutations that are predicted to cause diverse behavioral and developmental defects. Resurrection and functional characterization of several genes from the Wrangel Island mammoth carrying putatively deleterious substitutions identified both loss and gain of function mutations in genes associated with developmental defects (HYLS1), oligozoospermia and reduced male fertility (NKD1), diabetes (NEUROG3), and the ability to detect floral scents (OR5A1). These data suggest that at least one Wrangel Island mammoth may have suffered adverse consequences from reduced population size and isolation. Text Wrangel Island PubMed Central (PMC) Wrangel Island ENVELOPE(-179.385,-179.385,71.244,71.244) Genome Biology and Evolution 12 3 48 58 |
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Research Article Fry, Erin Kim, Sun K Chigurapti, Sravanthi Mika, Katelyn M Ratan, Aakrosh Dammermann, Alexander Mitchell, Brian J Miller, Webb Lynch, Vincent J Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth |
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Research Article |
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Woolly mammoths were among the most abundant cold-adapted species during the Pleistocene. Their once-large populations went extinct in two waves, an end-Pleistocene extinction of continental populations followed by the mid-Holocene extinction of relict populations on St. Paul Island ∼5,600 years ago and Wrangel Island ∼4,000 years ago. Wrangel Island mammoths experienced an episode of rapid demographic decline coincident with their isolation, leading to a small population, reduced genetic diversity, and the fixation of putatively deleterious alleles, but the functional consequences of these processes are unclear. Here, we show that a Wrangel Island mammoth genome had many putative deleterious mutations that are predicted to cause diverse behavioral and developmental defects. Resurrection and functional characterization of several genes from the Wrangel Island mammoth carrying putatively deleterious substitutions identified both loss and gain of function mutations in genes associated with developmental defects (HYLS1), oligozoospermia and reduced male fertility (NKD1), diabetes (NEUROG3), and the ability to detect floral scents (OR5A1). These data suggest that at least one Wrangel Island mammoth may have suffered adverse consequences from reduced population size and isolation. |
format |
Text |
author |
Fry, Erin Kim, Sun K Chigurapti, Sravanthi Mika, Katelyn M Ratan, Aakrosh Dammermann, Alexander Mitchell, Brian J Miller, Webb Lynch, Vincent J |
author_facet |
Fry, Erin Kim, Sun K Chigurapti, Sravanthi Mika, Katelyn M Ratan, Aakrosh Dammermann, Alexander Mitchell, Brian J Miller, Webb Lynch, Vincent J |
author_sort |
Fry, Erin |
title |
Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth |
title_short |
Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth |
title_full |
Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth |
title_fullStr |
Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth |
title_full_unstemmed |
Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth |
title_sort |
functional architecture of deleterious genetic variants in the genome of a wrangel island mammoth |
publisher |
Oxford University Press |
publishDate |
2020 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7094797/ http://www.ncbi.nlm.nih.gov/pubmed/32031213 https://doi.org/10.1093/gbe/evz279 |
long_lat |
ENVELOPE(-179.385,-179.385,71.244,71.244) |
geographic |
Wrangel Island |
geographic_facet |
Wrangel Island |
genre |
Wrangel Island |
genre_facet |
Wrangel Island |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7094797/ http://www.ncbi.nlm.nih.gov/pubmed/32031213 http://dx.doi.org/10.1093/gbe/evz279 |
op_rights |
© The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.1093/gbe/evz279 |
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Genome Biology and Evolution |
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12 |
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3 |
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48 |
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58 |
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1766235033174016000 |