Direct sequencing estimates of mutation rate (phenotypic mutations analysis)

Value 1.8E-08 mutations/site/generation Range: Table - link mutations/site/generation
Organism Human Homo sapiens
Reference Kondrashov FA, Kondrashov AS. Measurements of spontaneous rates of mutations in the recent past and the near future. Philos Trans R Soc Lond B Biol Sci. 2010 Apr 27 365(1544):1169-76. doi: 10.1098/rstb.2009.0286. p.1172 table 1PubMed ID20308091
Primary Source Nachman, M. W. & Crowell, S. L. 2000 Estimate of the mutation rate per nucleotide in humans. Genetics 156, 297–304. & Kondrashov, A. S. 2003 Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum. Mutat. 21, 12–27. (doi:10.1002/humu.10147) & Xue, Y. et al. 2009 Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr. Biol. 19, 1453–1457 (doi:10.1016/j.cub.2009.07.032).PubMed ID10978293, 12497628, 19716302
Method "As far as quantitative estimates of mutation rate are concerned, a large fraction of them have been obtained in recent studies that use a multigeneration direct sequencing approach (table 1)."
Comments See "comments" column.
Entered by Uri M
ID 109988