Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

TLDR

Human mitochondrial DNA is widely used in evolutionary anthropology, population history, medical genetics, genetic genealogy, and forensic science, yet detailed phylogenetic knowledge of its variants remains incomplete. The authors aimed to create an updated comprehensive phylogeny of global human mtDNA variation to improve its utility. They constructed the phylogeny using both coding‑ and control‑region mutations. The resulting tree incorporates published and newly identified haplogroups, is easily navigable, will be regularly updated, and is available online at phylotree.org.

Abstract

Human mitochondrial DNA is widely used as tool in many fields including evolutionary anthropology and population history, medical genetics, genetic genealogy, and forensic science. Many applications require detailed knowledge about the phylogenetic relationship of mtDNA variants. Although the phylogenetic resolution of global human mtDNA diversity has greatly improved as a result of increasing sequencing efforts of complete mtDNA genomes, an updated overall mtDNA tree is currently not available. In order to facilitate a better use of known mtDNA variation, we have constructed an updated comprehensive phylogeny of global human mtDNA variation, based on both coding- and control region mutations. This complete mtDNA tree includes previously published as well as newly identified haplogroups, is easily navigable, will be continuously and regularly updated in the future, and is online available at http://www.phylotree.org.