Analysis of the complete human mtDNA genome: methodology and inferences for human evolution
Related Experiment Video
Updated: Sep 7, 2026

Primer Extension Capture: Targeted Sequence Retrieval from Heavily Degraded DNA Sources
Published on: September 3, 2009
1Department of Genetics and Pathology, Section of Medical Genetics, Rudbeck Laboratory, Dag Hammarskjldsvg 20, University of Uppsala, S-751 85 Uppsala, Sweden.
Abstract:
The analysis of mitochondrial DNA (mtDNA) sequences has been a potent tool in our understanding of human evolution. However, almost all studies of human evolution based on mtDNA sequencing have focused on the control region, which constitutes less than 7% of the mitochondrial genome. The rapid development of technology for automated DNA sequencing has made it possible to study the complete mtDNA genomes in large numbers of individuals, opening the field of mitochondrial population genomics. Here we describe a suitable methodology for determining the complete human mitochondrial sequence and the global mtDNA diversity in humans. Also, we discuss the implications of the results with respect to the different hypotheses for the evolution of modern humans.
Related Concept Videos
Genomics
Animal Mitochondrial Genetics
Evolutionary Relationships through Genome Comparisons
Synteny and Evolution
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...
Modern Molecular Taxonomy
Microbial Phylogeny

