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Mitochondrial DNA

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Evolution of the Human Genome II

Part of the book series: Evolutionary Studies ((EVOLUS))

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Abstract

Mitochondria DNA (mtDNA) has distinct features from nuclear DNA. It has a circular DNA and coding its own genome. mtDNA consists of two regions, control region and coding region. Control region has start site for replication and transcription start sites. Coding regions have rRNAs and protein coding genes. Only the mtDNA in an oocyte is transmitted to the offspring, therefore it is transmitted through female lineage only. Thousands of mtDNA copies are in a cell and this makes mtDNA extraction easier. The mutation rate of mtDNA is higher than nuclear DNA. Hyper Variable Regions (HVR) in the control region have even higher mutation rates. Because of these features, mtDNA is frequently used for forensic studies or ancient DNA studies. Closely related mtDNA sequences are grouped into haplogroups. The combination of mutation including recurrent mutations determines the haplogroup. Whole mtDNA sequences are ideal for determining haplogroup. Caution is needed when haplogroups are determined based on control region.

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  1. The School of Advanced Sciences, SOKENDAI (The Graduate University for Advanced Studies), Hayama, Japan

    Jun Gojobori

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Correspondence to Jun Gojobori .

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  1. Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, Japan

    Naruya Saitou

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Gojobori, J. (2021). Mitochondrial DNA. In: Saitou, N. (eds) Evolution of the Human Genome II. Evolutionary Studies. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56904-6_4

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