Functional Architecture of Deleterious Genetic Variants in the Genome of a Wrangel Island Mammoth
Abstract 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...
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Oxford University Press (OUP)
2020
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Online Access: | http://dx.doi.org/10.1093/gbe/evz279 http://academic.oup.com/gbe/advance-article-pdf/doi/10.1093/gbe/evz279/32353706/evz279.pdf http://academic.oup.com/gbe/article-pdf/12/3/48/32970481/evz279.pdf |
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croxfordunivpr:10.1093/gbe/evz279 2024-06-09T07:50:08+00:00 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 Baer, Charles 2020 http://dx.doi.org/10.1093/gbe/evz279 http://academic.oup.com/gbe/advance-article-pdf/doi/10.1093/gbe/evz279/32353706/evz279.pdf http://academic.oup.com/gbe/article-pdf/12/3/48/32970481/evz279.pdf en eng Oxford University Press (OUP) http://creativecommons.org/licenses/by/4.0/ Genome Biology and Evolution volume 12, issue 3, page 48-58 ISSN 1759-6653 journal-article 2020 croxfordunivpr https://doi.org/10.1093/gbe/evz279 2024-05-10T13:17:19Z Abstract 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. Article in Journal/Newspaper Wrangel Island Oxford University Press Wrangel Island ENVELOPE(-179.385,-179.385,71.244,71.244) Genome Biology and Evolution 12 3 48 58 |
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Open Polar |
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Oxford University Press |
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croxfordunivpr |
language |
English |
description |
Abstract 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. |
author2 |
Baer, Charles |
format |
Article in Journal/Newspaper |
author |
Fry, Erin Kim, Sun K Chigurapti, Sravanthi Mika, Katelyn M Ratan, Aakrosh Dammermann, Alexander Mitchell, Brian J Miller, Webb Lynch, Vincent J |
spellingShingle |
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 |
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 (OUP) |
publishDate |
2020 |
url |
http://dx.doi.org/10.1093/gbe/evz279 http://academic.oup.com/gbe/advance-article-pdf/doi/10.1093/gbe/evz279/32353706/evz279.pdf http://academic.oup.com/gbe/article-pdf/12/3/48/32970481/evz279.pdf |
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_source |
Genome Biology and Evolution volume 12, issue 3, page 48-58 ISSN 1759-6653 |
op_rights |
http://creativecommons.org/licenses/by/4.0/ |
op_doi |
https://doi.org/10.1093/gbe/evz279 |
container_title |
Genome Biology and Evolution |
container_volume |
12 |
container_issue |
3 |
container_start_page |
48 |
op_container_end_page |
58 |
_version_ |
1801383333017419776 |