Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.

The high risk of metabolic disease traits in Polynesians may be partly explained by elevated prevalence of genetic variants involved in energy metabolism. The genetics of Polynesian populations has been shaped by island hoping migration events which have possibly favoured thrifty genes. The aim of t...

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Autores principales: Miles Benton, Donia Macartney-Coxson, David Eccles, Lyn Griffiths, Geoff Chambers, Rod Lea
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Publicado: Public Library of Science (PLoS) 2012
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Acceso en línea:https://doaj.org/article/8e688352d5ce4754ac2fc173e2b97479
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spelling oai:doaj.org-article:8e688352d5ce4754ac2fc173e2b974792021-11-18T07:22:12ZComplete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.1932-620310.1371/journal.pone.0035026https://doaj.org/article/8e688352d5ce4754ac2fc173e2b974792012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22514703/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203The high risk of metabolic disease traits in Polynesians may be partly explained by elevated prevalence of genetic variants involved in energy metabolism. The genetics of Polynesian populations has been shaped by island hoping migration events which have possibly favoured thrifty genes. The aim of this study was to sequence the mitochondrial genome in a group of Maoris in an effort to characterise genome variation in this Polynesian population for use in future disease association studies. We sequenced the complete mitochondrial genomes of 20 non-admixed Maori subjects using Affymetrix technology. DNA diversity analyses showed the Maori group exhibited reduced mitochondrial genome diversity compared to other worldwide populations, which is consistent with historical bottleneck and founder effects. Global phylogenetic analysis positioned these Maori subjects specifically within mitochondrial haplogroup--B4a1a1. Interestingly, we identified several novel variants that collectively form new and unique Maori motifs--B4a1a1c, B4a1a1a3 and B4a1a1a5. Compared to ancestral populations we observed an increased frequency of non-synonymous coding variants of several mitochondrial genes in the Maori group, which may be a result of positive selection and/or genetic drift effects. In conclusion, this study reports the first complete mitochondrial genome sequence data for a Maori population. Overall, these new data reveal novel mitochondrial genome signatures in this Polynesian population and enhance the phylogenetic picture of maternal ancestry in Oceania. The increased frequency of several mitochondrial coding variants makes them good candidates for future studies aimed at assessment of metabolic disease risk in Polynesian populations.Miles BentonDonia Macartney-CoxsonDavid EcclesLyn GriffithsGeoff ChambersRod LeaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 4, p e35026 (2012)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Miles Benton
Donia Macartney-Coxson
David Eccles
Lyn Griffiths
Geoff Chambers
Rod Lea
Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.
description The high risk of metabolic disease traits in Polynesians may be partly explained by elevated prevalence of genetic variants involved in energy metabolism. The genetics of Polynesian populations has been shaped by island hoping migration events which have possibly favoured thrifty genes. The aim of this study was to sequence the mitochondrial genome in a group of Maoris in an effort to characterise genome variation in this Polynesian population for use in future disease association studies. We sequenced the complete mitochondrial genomes of 20 non-admixed Maori subjects using Affymetrix technology. DNA diversity analyses showed the Maori group exhibited reduced mitochondrial genome diversity compared to other worldwide populations, which is consistent with historical bottleneck and founder effects. Global phylogenetic analysis positioned these Maori subjects specifically within mitochondrial haplogroup--B4a1a1. Interestingly, we identified several novel variants that collectively form new and unique Maori motifs--B4a1a1c, B4a1a1a3 and B4a1a1a5. Compared to ancestral populations we observed an increased frequency of non-synonymous coding variants of several mitochondrial genes in the Maori group, which may be a result of positive selection and/or genetic drift effects. In conclusion, this study reports the first complete mitochondrial genome sequence data for a Maori population. Overall, these new data reveal novel mitochondrial genome signatures in this Polynesian population and enhance the phylogenetic picture of maternal ancestry in Oceania. The increased frequency of several mitochondrial coding variants makes them good candidates for future studies aimed at assessment of metabolic disease risk in Polynesian populations.
format article
author Miles Benton
Donia Macartney-Coxson
David Eccles
Lyn Griffiths
Geoff Chambers
Rod Lea
author_facet Miles Benton
Donia Macartney-Coxson
David Eccles
Lyn Griffiths
Geoff Chambers
Rod Lea
author_sort Miles Benton
title Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.
title_short Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.
title_full Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.
title_fullStr Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.
title_full_unstemmed Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population.
title_sort complete mitochondrial genome sequencing reveals novel haplotypes in a polynesian population.
publisher Public Library of Science (PLoS)
publishDate 2012
url https://doaj.org/article/8e688352d5ce4754ac2fc173e2b97479
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