Mitochondrial DNA mutation rate

Range ~2.7×10^-5 substitutions/site/generation
Organism Human Homo sapiens
Reference Schneider S, Excoffier L. Estimation of past demographic parameters from the distribution of pairwise differences when the mutation rates vary among sites: application to human mitochondrial DNA. Genetics. 1999 Jul152(3):1079-89. p.1088 left column top paragraphPubMed ID10388826
Primary Source Howell N., Kubacha I., Mackey D. A., 1996 How rapidly does the human mitochondrial genome evolve? Am. J. Hum. Genet. 59: 501–509 & Parsons et al., 1997 A high observed substitution rate in the human mitochondrial DNA control region. Nat. Genet. 15: 363–368. & Parsons and Holland 1998 Reply to Jazin et al. Nat. Genet. 18: 110.PubMed ID8751850, 9090380
Method "...studying the mutation process directly on pedigrees..."
Comments "To get absolute values for the demographic parameters inferred using the present approach, one should get an estimation of the substitution rate at the nucleotide level. The real value of mutation rate in humans has recently been the subject of an intense debate between those advocating the use of a phylogenetic mutation rate (~3×10^–6 substitutions per site per generation of 20 yr) calibrated by the divergence between humans and chimpanzees (BNID 111227) and those studying the mutation process directly on pedigrees giving numbers ~10 times larger (~2.7×10^–5 substitutions per site per generation, primary sources). For the present methodology to be fully beneficial, it thus seems highly necessary to get reliable estimates of mutation rates. Otherwise, the importance of taking into account more realistic mutation models would seem rather futile."
Entered by Uri M
ID 111228