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The American Journal of Human Genetics
Article
License: Elsevier Non-Commercial
Data sources: UnpayWall
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The American Journal of Human Genetics
Article . 2001
License: Elsevier Non-Commercial
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The American Journal of Human Genetics
Article . 2001 . Peer-reviewed
License: Elsevier Non-Commercial
Data sources: Crossref
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Phylogenetic Network for European mtDNA

Authors: Finnilä, Saara; Lehtonen, Mervi S.; Majamaa, Kari;
Abstract

The sequence in the first hypervariable segment (HVS-I) of the control region has been used as a source of evolutionary information in most phylogenetic analyses of mtDNA. Population genetic inference would benefit from a better understanding of the variation in the mtDNA coding region, but, thus far, complete mtDNA sequences have been rare. We determined the nucleotide sequence in the coding region of mtDNA from 121 Finns, by conformation-sensitive gel electrophoresis and subsequent sequencing and by direct sequencing of the D loop. Furthermore, 71 sequences from our previous reports were included, so that the samples represented all the mtDNA haplogroups present in the Finnish population. We found a total of 297 variable sites in the coding region, which allowed the compilation of unambiguous phylogenetic networks. The D loop harbored 104 variable sites, and, in most cases, these could be localized within the coding-region networks, without discrepancies. Interestingly, many homoplasies were detected in the coding region. Nucleotide variation in the rRNA and tRNA genes was 6%, and that in the third nucleotide positions of structural genes amounted to 22% of that in the HVS-I. The complete networks enabled the relationships between the mtDNA haplogroups to be analyzed. Phylogenetic networks based on the entire coding-region sequence in mtDNA provide a rich source for further population genetic studies, and complete sequences make it easier to differentiate between disease-causing mutations and rare polymorphisms.

Related Organizations
Keywords

Genome, Polymorphism, Genetic, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Regulatory Sequences, Nucleic Acid, DNA, Mitochondrial, Evolution, Molecular, Haplotypes, RNA, Transfer, RNA, Ribosomal, Mutation, Genetics, Humans, Nucleic Acid Conformation, Genetics(clinical), Codon, Finland, Phylogeny

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
294
Top 10%
Top 1%
Top 1%
hybrid
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