Genetic architecture and adaptations of Nunavik Inuit
The Canadian Inuit have a distinct population background that may entail particular implications for the health of its individuals. However, the number of genetic studies examining this Inuit population is limited, and much remains to be discovered in regard to its genetic characteristics. In this s...
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ftpubmed:oai:pubmedcentral.nih.gov:6689950 2023-05-15T15:08:42+02:00 Genetic architecture and adaptations of Nunavik Inuit Zhou, Sirui Xie, Pingxing Quoibion, Amélie Ambalavanan, Amirthagowri Dionne-Laporte, Alexandre Spiegelman, Dan Bourassa, Cynthia V. Xiong, Lan Dion, Patrick A. Rouleau, Guy A. 2019-08-06 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689950/ http://www.ncbi.nlm.nih.gov/pubmed/31332017 https://doi.org/10.1073/pnas.1810388116 en eng National Academy of Sciences http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689950/ http://www.ncbi.nlm.nih.gov/pubmed/31332017 http://dx.doi.org/10.1073/pnas.1810388116 https://www.pnas.org/site/aboutpnas/licenses.xhtmlPublished under the PNAS license (https://www.pnas.org/site/aboutpnas/licenses.xhtml) . Biological Sciences Text 2019 ftpubmed https://doi.org/10.1073/pnas.1810388116 2020-01-26T01:14:56Z The Canadian Inuit have a distinct population background that may entail particular implications for the health of its individuals. However, the number of genetic studies examining this Inuit population is limited, and much remains to be discovered in regard to its genetic characteristics. In this study, we generated whole-exome sequences and genomewide genotypes for 170 Nunavik Inuit, a small and isolated founder population of Canadian Arctic indigenous people. Our study revealed the genetic background of Nunavik Inuit to be distinct from any known present-day population. The majority of Nunavik Inuit show little evidence of gene flow from European or present-day Native American peoples, and Inuit living around Hudson Bay are genetically distinct from those around Ungava Bay. We also inferred that Nunavik Inuit have a small effective population size of 3,000 and likely split from Greenlandic Inuit ∼10.5 kya. Nunavik Inuit went through a bottleneck at approximately the same time and might have admixed with a population related to the Paleo-Eskimos. Our study highlights population-specific genomic signatures in coding regions that show adaptations unique to Nunavik Inuit, particularly in pathways involving fatty acid metabolism and cellular adhesion (CPNE7, ICAM5, STAT2, and RAF1). Subsequent analyses in selection footprints and the risk of intracranial aneurysms (IAs) in Nunavik Inuit revealed an exonic variant under weak negative selection to be significantly associated with IA (rs77470587; P = 4.6 × 10(−8)). Text Arctic eskimo* greenlandic Hudson Bay inuit Ungava Bay Nunavik PubMed Central (PMC) Arctic Hudson Hudson Bay Kya ENVELOPE(8.308,8.308,63.772,63.772) Nunavik Ungava Bay ENVELOPE(-67.489,-67.489,59.498,59.498) Proceedings of the National Academy of Sciences 116 32 16012 16017 |
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Biological Sciences |
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Biological Sciences Zhou, Sirui Xie, Pingxing Quoibion, Amélie Ambalavanan, Amirthagowri Dionne-Laporte, Alexandre Spiegelman, Dan Bourassa, Cynthia V. Xiong, Lan Dion, Patrick A. Rouleau, Guy A. Genetic architecture and adaptations of Nunavik Inuit |
topic_facet |
Biological Sciences |
description |
The Canadian Inuit have a distinct population background that may entail particular implications for the health of its individuals. However, the number of genetic studies examining this Inuit population is limited, and much remains to be discovered in regard to its genetic characteristics. In this study, we generated whole-exome sequences and genomewide genotypes for 170 Nunavik Inuit, a small and isolated founder population of Canadian Arctic indigenous people. Our study revealed the genetic background of Nunavik Inuit to be distinct from any known present-day population. The majority of Nunavik Inuit show little evidence of gene flow from European or present-day Native American peoples, and Inuit living around Hudson Bay are genetically distinct from those around Ungava Bay. We also inferred that Nunavik Inuit have a small effective population size of 3,000 and likely split from Greenlandic Inuit ∼10.5 kya. Nunavik Inuit went through a bottleneck at approximately the same time and might have admixed with a population related to the Paleo-Eskimos. Our study highlights population-specific genomic signatures in coding regions that show adaptations unique to Nunavik Inuit, particularly in pathways involving fatty acid metabolism and cellular adhesion (CPNE7, ICAM5, STAT2, and RAF1). Subsequent analyses in selection footprints and the risk of intracranial aneurysms (IAs) in Nunavik Inuit revealed an exonic variant under weak negative selection to be significantly associated with IA (rs77470587; P = 4.6 × 10(−8)). |
format |
Text |
author |
Zhou, Sirui Xie, Pingxing Quoibion, Amélie Ambalavanan, Amirthagowri Dionne-Laporte, Alexandre Spiegelman, Dan Bourassa, Cynthia V. Xiong, Lan Dion, Patrick A. Rouleau, Guy A. |
author_facet |
Zhou, Sirui Xie, Pingxing Quoibion, Amélie Ambalavanan, Amirthagowri Dionne-Laporte, Alexandre Spiegelman, Dan Bourassa, Cynthia V. Xiong, Lan Dion, Patrick A. Rouleau, Guy A. |
author_sort |
Zhou, Sirui |
title |
Genetic architecture and adaptations of Nunavik Inuit |
title_short |
Genetic architecture and adaptations of Nunavik Inuit |
title_full |
Genetic architecture and adaptations of Nunavik Inuit |
title_fullStr |
Genetic architecture and adaptations of Nunavik Inuit |
title_full_unstemmed |
Genetic architecture and adaptations of Nunavik Inuit |
title_sort |
genetic architecture and adaptations of nunavik inuit |
publisher |
National Academy of Sciences |
publishDate |
2019 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689950/ http://www.ncbi.nlm.nih.gov/pubmed/31332017 https://doi.org/10.1073/pnas.1810388116 |
long_lat |
ENVELOPE(8.308,8.308,63.772,63.772) ENVELOPE(-67.489,-67.489,59.498,59.498) |
geographic |
Arctic Hudson Hudson Bay Kya Nunavik Ungava Bay |
geographic_facet |
Arctic Hudson Hudson Bay Kya Nunavik Ungava Bay |
genre |
Arctic eskimo* greenlandic Hudson Bay inuit Ungava Bay Nunavik |
genre_facet |
Arctic eskimo* greenlandic Hudson Bay inuit Ungava Bay Nunavik |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689950/ http://www.ncbi.nlm.nih.gov/pubmed/31332017 http://dx.doi.org/10.1073/pnas.1810388116 |
op_rights |
https://www.pnas.org/site/aboutpnas/licenses.xhtmlPublished under the PNAS license (https://www.pnas.org/site/aboutpnas/licenses.xhtml) . |
op_doi |
https://doi.org/10.1073/pnas.1810388116 |
container_title |
Proceedings of the National Academy of Sciences |
container_volume |
116 |
container_issue |
32 |
container_start_page |
16012 |
op_container_end_page |
16017 |
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1766340012238962688 |