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Cited by 391

The DOI matches its Crossref record; 78 of the 78 references it cites were found in a registry or an index.

Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations

Kong, Qing-Peng, Bandelt, Hans-Jürgen, Sun, Chang, Yao, Yong-Gang, Salas, Antonio, Achilli, Alessandro, Wang, Cheng-Ye, Zhong, Li, Zhu, Chun-Ling, Wu, Shi-Fang, Torroni, Antonio, Zhang, Ya-Ping·2006·Human Molecular Genetics
DOI 10.1093/hmg/ddl130
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Abstract

Knowledge about the world phylogeny of human mitochondrial DNA (mtDNA) is essential not only for evaluating the pathogenic role of specific mtDNA mutations but also for performing reliable association studies between mtDNA haplogroups and complex disorders. In the past few years, the main features of the East Asian portion of the mtDNA phylogeny have been determined on the basis of complete sequencing efforts, but representatives of several basal lineages were still lacking. Moreover, some recently published complete mtDNA sequences did apparently not fit into the known phylogenetic tree and conflicted with the established nomenclature. To refine the East Asian mtDNA tree and resolve data conflicts, we first completely sequenced 20 carefully selected mtDNAs--likely representatives of novel sub-haplogroups--and then, in order to distinguish diagnostic mutations of novel haplogroups from private variants, we applied a 'motif-search' procedure to a large sample collection. The novel information was incorporated into an updated East Asian mtDNA tree encompassing more than 1000 (near-) complete mtDNA sequences. A reassessment of the mtDNA data from a series of disease studies testified to the usefulness of such a refined mtDNA tree in evaluating the pathogenicity of mtDNA mutations. In particular, the claimed pathogenic role of mutations G3316A, T3394C, A4833G and G15497A appears to be most questionable as those initial claims were derived from anecdotal findings rather than e.g. appropriate association studies. Following a guideline based on the phylogenetic knowledge as proposed here could help avoiding similar problems in the future.

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Metadata

Authors
Kong, Q.-P., Bandelt, H.-J., Sun, C., Yao, Y.-G., Salas, A., Achilli, A., Wang, C.-Y., Zhong, L., Zhu, C.-L., Wu, S.-F., Torroni, A., & Zhang, Y.-P.
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2006-05-19
Volume
15
Issue
13
Pages
2076-2086
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
DOI
10.1093/hmg/ddl130
OpenAlex
W2137341257
Cited by
391
References
78
FWCI
19.62
Type
journal article
Language
en
Open access
closed

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