Common variation in human mitochondrial DNA

The human mitochondrial genome is only 16-kb long and is maternally inherited. To identify common SNPs in the coding region of human mtDNA, we created a catalogue of variable sites from >1,200 publicly available mtDNA sequences in GenBank and MitoKor (see Herrnstadt et al., AJHG, 2002), originating from European (n=928), Asian (n=238) and African (n=87) samples. From the alignment of these 928 European sequences, we identified 144 common SNPs with ≥1% frequency and 64 tag SNPs to capture them with r2 ≥ 0.8.

We encourage everyone to consult the Mitomap resource for further information about mitochondrial genetic variation.

This is a project led by Richa Saxena and Paul de Bakker.



R. Saxena, P.I.W. de Bakker, K. Synger, V. Mootha, N. Burtt, J.N. Hirschhorn, D. Gaudet, D. Isomaa, M.J. Daly, L. Groop, K.G. Ardlie, D. Altshuler (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. American Journal of Human Genetics. 79: 54-61