Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences.

The now-emerging mitochondrial DNA (mtDNA) population genomics provides information for reconstructing a well-resolved mtDNA phylogeny and for discerning the phylogenetic status of the subcontinentally specific haplogroups. Although several major East Asian mtDNA haplogroups have been identified in studies elsewhere, some of the most basal haplogroups, as well as numerous minor subhaplogroups, were not yet determined or fully characterized. To fill the lacunae, we selected 48 mtDNAs from >2,000 samples across China for complete sequencing that cover virtually all (sub)haplogroups discernible to date in East Asia. This East Asian mtDNA phylogeny can henceforth serve as a solid basis for phylogeographic analyses of mtDNAs, as well as for studies of mitochondrial diseases in East and Southeast Asia.

[1]  T. Kivisild,et al.  To trust or not to trust an idiosyncratic mitochondrial data set. , 2003, American journal of human genetics.

[2]  Yun-Xin Fu,et al.  Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. , 2002, American journal of physical anthropology.

[3]  Ya-ping Zhang,et al.  Pitfalls in the analysis of ancient human mtDNA , 2003 .

[4]  Marty C. Brandon,et al.  Natural selection shaped regional mtDNA variation in humans , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[5]  R. Sukernik,et al.  Analysis of mitochondrial DNA diversity in the aleuts of the commander islands and its implications for the genetic history of beringia. , 2002, American journal of human genetics.

[6]  H. Bandelt,et al.  Detecting errors in mtDNA data by phylogenetic analysis , 2001, International Journal of Legal Medicine.

[7]  R. Villems,et al.  Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats , 2003, Annals of human genetics.

[8]  M. Lehtonen,et al.  Phylogenetic network for European mtDNA. , 2001, American journal of human genetics.

[9]  Q. Kong,et al.  Mitochondrial DNA 5178A polymorphism and longevity , 2002, Human Genetics.

[10]  N. Howell,et al.  Errors, phantoms and otherwise, in human mtDNA sequences. , 2003, American journal of human genetics.

[11]  G. Valle,et al.  Do the four clades of the mtDNA haplogroup L2 evolve at different rates? , 2001, American journal of human genetics.

[12]  D. Turnbull,et al.  Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA , 1999, Nature Genetics.

[13]  S. Pääbo,et al.  Mitochondrial genome variation and the origin of modern humans , 2000, Nature.

[14]  J. Haines,et al.  Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. , 2003, American journal of human genetics.

[15]  M. Zeviani,et al.  Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. , 1997, American journal of human genetics.

[16]  H. Bandelt,et al.  mtDNA variation among Greenland Eskimos: the edge of the Beringian expansion. , 2000, American journal of human genetics.

[17]  D. Mari,et al.  Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans , 1999, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[18]  Ya-ping Zhang,et al.  Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal , 2002, Journal of Human Genetics.

[19]  K. Majamaa,et al.  Mitochondrial DNA polymorphisms associated with longevity in a Finnish population , 2002, Human Genetics.

[20]  Q. Kong,et al.  Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA. , 2003, Molecular biology and evolution.

[21]  Y. Goto,et al.  A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy , 2003, Journal of Human Genetics.

[22]  D. Turnbull,et al.  Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. , 2002, American journal of human genetics.

[23]  D. Wallace,et al.  Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. , 1997, American journal of human genetics.

[24]  T. Kivisild,et al.  Phylogeographic differentiation of mitochondrial DNA in Han Chinese. , 2002, American journal of human genetics.

[25]  Carolyn J. Brown,et al.  Expression of genes from the human active and inactive X chromosomes. , 1997, American journal of human genetics.

[26]  A. Torroni,et al.  Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. , 2003, American journal of human genetics.

[27]  About the "Pathological" role of the mtDNA T3308C mutationellipsis. , 1999, American journal of human genetics.

[28]  K. Yagi,et al.  Mitochondrial genotype associated with longevity , 1998, The Lancet.

[29]  N. Maca-Meyer,et al.  Major genomic mitochondrial lineages delineate early human expansions , 2001, BMC Genetics.

[30]  Hans-Jürgen Bandelt,et al.  The emerging limbs and twigs of the East Asian mtDNA tree. , 2002, Molecular biology and evolution.