mtDNA variation, climatic adaptation, degenerative diseases, and longevity Academic Article uri icon


  • ND3 which define the Asian-specific haplogroup F, and variants in the 12S rRNA at np 663G, in the intergenic region between COII and tRNALys (9-bp deletion), in ND5 at np 13263G, and in ND2 at np 5178A, that define haplogroups A, B, C, and D, respectively (Figs. 1 and 2). These later haplogroups arose in Asia and crossed into America to found the Native Americans. A phylogenetic analysis of 1125 mtDNA coding region sequences (Fig. 2) provides an overall outline of the radiation of mtDNAs around the world (Ruiz-Pesini et al. 2004.). Humans arose in Africa between 150,000 and 200,000 years before present (YBP) and radiated in that continent to generate haplogroups L0, L1, L2, and L3. Macro- haplogroup L was established as the first human mtDNA lineage by analyzing the sequences of nuclear DNA (nDNA)-encoded mtDNA pseudogenes. These are fragments …

publication date

  • January 1, 2003