Mitochondrial Origins of Human Nuclear Genes and DNA Sequences

Abstract

The human genome contains approximately 300 segments of mitochondrial DNA greater than 100 bp in length that were integrated during evolutionarily recent time into the nuclear chromosomes. The total number of genes encoding functional proteins in the human genome that ultimately stem from the ancestral mitochondrial genome is currently unknown, but it probably comprises a very substantial fraction of the genome.

Keywords: evolution; endosymbiosis; gene transfer; mitochondria; chloroplasts

Figure 1.

Recently transferred mtDNA fragments in the human genome identified by Mourier et al.. (a) Length distribution of mtDNA fragments of more than 100 bp in length, tallied in bins of 500 bp. (b) Frequency distribution of sequence identity between mtDNA fragments and genuine human mtDNA. (c) Frequency distribution of mtDNA fragments per chromosome.

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Further Reading

Bensasson D, Feldman MW and Petrov DA (2003) Rates of DNA duplication and mitochondrial DNA insertion in the human genome. Journal of Molecular Evolution 57: 343–354.

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Web Links

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Martin, William F(Dec 2007) Mitochondrial Origins of Human Nuclear Genes and DNA Sequences. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006113.pub2]