Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.
Nunavik Inuit (northern Quebec, Canada) reside along the arctic coastline where for generations their daily energy intake has mainly been derived from animal fat. Given this particular diet it has been hypothesized that natural selection would lead to population specific allele frequency differences...
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ftdoajarticles:oai:doaj.org/article:f32cb1f5473e4cedab88d55070cb095a 2023-05-15T15:09:21+02:00 Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. Sirui Zhou Lan Xiong Pingxing Xie Amirthagowri Ambalavanan Cynthia V Bourassa Alexandre Dionne-Laporte Dan Spiegelman Maude Turcotte Gauthier Edouard Henrion Ousmane Diallo Patrick A Dion Guy A Rouleau 2015-01-01T00:00:00Z https://doi.org/10.1371/journal.pone.0128255 https://doaj.org/article/f32cb1f5473e4cedab88d55070cb095a EN eng Public Library of Science (PLoS) http://europepmc.org/articles/PMC4444093?pdf=render https://doaj.org/toc/1932-6203 1932-6203 doi:10.1371/journal.pone.0128255 https://doaj.org/article/f32cb1f5473e4cedab88d55070cb095a PLoS ONE, Vol 10, Iss 5, p e0128255 (2015) Medicine R Science Q article 2015 ftdoajarticles https://doi.org/10.1371/journal.pone.0128255 2022-12-30T22:19:32Z Nunavik Inuit (northern Quebec, Canada) reside along the arctic coastline where for generations their daily energy intake has mainly been derived from animal fat. Given this particular diet it has been hypothesized that natural selection would lead to population specific allele frequency differences and unique variants in genes related to fatty acid metabolism. A group of genes, namely CPT1A, CPT1B, CPT1C, CPT2, CRAT and CROT, encode for three carnitine acyltransferases that are important for the oxidation of fatty acids, a critical step in their metabolism.Exome sequencing and SNP array genotyping were used to examine the genetic variations in the six genes encoding for the carnitine acyltransferases in 113 Nunavik Inuit individuals.Altogether ten missense variants were found in genes CPT1A, CPT1B, CPT1C, CPT2 and CRAT, including three novel variants and one Inuit specific variant CPT1A p.P479L (rs80356779). The latter has the highest frequency (0.955) compared to other Inuit populations. We found that by comparison to Asians or Europeans, the Nunavik Inuit have an increased mutation burden in CPT1A, CPT2 and CRAT; there is also a high level of population differentiation based on carnitine acyltransferase gene variations between Nunavik Inuit and Asians.The increased number and frequency of deleterious variants in these fatty acid metabolism genes in Nunavik Inuit may be the result of genetic adaptation to their diet and/or the extremely cold climate. In addition, the identification of these variants may help to understand some of the specific health risks of Nunavik Inuit. Article in Journal/Newspaper Arctic inuit Nunavik Directory of Open Access Journals: DOAJ Articles Arctic Canada Nunavik PLOS ONE 10 5 e0128255 |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Medicine R Science Q |
spellingShingle |
Medicine R Science Q Sirui Zhou Lan Xiong Pingxing Xie Amirthagowri Ambalavanan Cynthia V Bourassa Alexandre Dionne-Laporte Dan Spiegelman Maude Turcotte Gauthier Edouard Henrion Ousmane Diallo Patrick A Dion Guy A Rouleau Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. |
topic_facet |
Medicine R Science Q |
description |
Nunavik Inuit (northern Quebec, Canada) reside along the arctic coastline where for generations their daily energy intake has mainly been derived from animal fat. Given this particular diet it has been hypothesized that natural selection would lead to population specific allele frequency differences and unique variants in genes related to fatty acid metabolism. A group of genes, namely CPT1A, CPT1B, CPT1C, CPT2, CRAT and CROT, encode for three carnitine acyltransferases that are important for the oxidation of fatty acids, a critical step in their metabolism.Exome sequencing and SNP array genotyping were used to examine the genetic variations in the six genes encoding for the carnitine acyltransferases in 113 Nunavik Inuit individuals.Altogether ten missense variants were found in genes CPT1A, CPT1B, CPT1C, CPT2 and CRAT, including three novel variants and one Inuit specific variant CPT1A p.P479L (rs80356779). The latter has the highest frequency (0.955) compared to other Inuit populations. We found that by comparison to Asians or Europeans, the Nunavik Inuit have an increased mutation burden in CPT1A, CPT2 and CRAT; there is also a high level of population differentiation based on carnitine acyltransferase gene variations between Nunavik Inuit and Asians.The increased number and frequency of deleterious variants in these fatty acid metabolism genes in Nunavik Inuit may be the result of genetic adaptation to their diet and/or the extremely cold climate. In addition, the identification of these variants may help to understand some of the specific health risks of Nunavik Inuit. |
format |
Article in Journal/Newspaper |
author |
Sirui Zhou Lan Xiong Pingxing Xie Amirthagowri Ambalavanan Cynthia V Bourassa Alexandre Dionne-Laporte Dan Spiegelman Maude Turcotte Gauthier Edouard Henrion Ousmane Diallo Patrick A Dion Guy A Rouleau |
author_facet |
Sirui Zhou Lan Xiong Pingxing Xie Amirthagowri Ambalavanan Cynthia V Bourassa Alexandre Dionne-Laporte Dan Spiegelman Maude Turcotte Gauthier Edouard Henrion Ousmane Diallo Patrick A Dion Guy A Rouleau |
author_sort |
Sirui Zhou |
title |
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. |
title_short |
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. |
title_full |
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. |
title_fullStr |
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. |
title_full_unstemmed |
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. |
title_sort |
increased missense mutation burden of fatty acid metabolism related genes in nunavik inuit population. |
publisher |
Public Library of Science (PLoS) |
publishDate |
2015 |
url |
https://doi.org/10.1371/journal.pone.0128255 https://doaj.org/article/f32cb1f5473e4cedab88d55070cb095a |
geographic |
Arctic Canada Nunavik |
geographic_facet |
Arctic Canada Nunavik |
genre |
Arctic inuit Nunavik |
genre_facet |
Arctic inuit Nunavik |
op_source |
PLoS ONE, Vol 10, Iss 5, p e0128255 (2015) |
op_relation |
http://europepmc.org/articles/PMC4444093?pdf=render https://doaj.org/toc/1932-6203 1932-6203 doi:10.1371/journal.pone.0128255 https://doaj.org/article/f32cb1f5473e4cedab88d55070cb095a |
op_doi |
https://doi.org/10.1371/journal.pone.0128255 |
container_title |
PLOS ONE |
container_volume |
10 |
container_issue |
5 |
container_start_page |
e0128255 |
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