Identification and analysis of mtDNA genomes attributed to Finns reveal long-stagnant demographic trends obscured in the total diversity

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Oversti , S , Onkamo , P , Stoljarova , M , Budowle , B , Sajantila , A & Palo , J U 2017 , ' Identification and analysis of mtDNA genomes attributed to Finns reveal long-stagnant demographic trends obscured in the total diversity ' , Scientific Reports , vol. 7 , 6193 . https://doi.org/10.1038/s41598-017-05673-7

Title: Identification and analysis of mtDNA genomes attributed to Finns reveal long-stagnant demographic trends obscured in the total diversity
Author: Oversti, Sanni; Onkamo, Paivi; Stoljarova, Monika; Budowle, Bruce; Sajantila, Antti; Palo, Jukka U.
Contributor: University of Helsinki, Biosciences
University of Helsinki, Biosciences
University of Helsinki, Medicum
University of Helsinki, Medicum
Date: 2017-07-21
Language: eng
Number of pages: 10
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/215230
Abstract: In Europe, modern mitochondrial diversity is relatively homogeneous and suggests an ubiquitous rapid population growth since the Neolithic revolution. Similar patterns also have been observed in mitochondrial control region data in Finland, which contrasts with the distinctive autosomal and Y-chromosomal diversity among Finns. A different picture emerges from the 843 whole mitochondrial genomes from modern Finns analyzed here. Up to one third of the subhaplogroups can be considered as Finn-characteristic, i.e. rather common in Finland but virtually absent or rare elsewhere in Europe. Bayesian phylogenetic analyses suggest that most of these attributed Finnish lineages date back to around 3,000-5,000 years, coinciding with the arrival of Corded Ware culture and agriculture into Finland. Bayesian estimation of past effective population sizes reveals two differing demographic histories: 1) the 'local' Finnish mtDNA haplotypes yielding small and dwindling size estimates for most of the past; and 2) the 'immigrant' haplotypes showing growth typical of most European populations. The results based on the local diversity are more in line with that known about Finns from other studies, e.g., Y-chromosome analyses and archaeology findings. The mitochondrial gene pool thus may contain signals of local population history that cannot be readily deduced from the total diversity.
Subject: HUMAN MITOCHONDRIAL-DNA
GENETIC DIVERSITY
POPULATION HISTORY
SAMPLING SCHEME
HIGH-THROUGHPUT
SEQUENCE
HUMANS
REGION
TREE
VARIABILITY
1184 Genetics, developmental biology, physiology
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