Ratio of paternal to maternal germ line mutations

Value 3.5 unitless
Organism Human Homo sapiens
Reference Rahbari R et al., Timing, rates and spectra of human germline mutation. Nat Genet. 2016 Feb48(2):126-33. doi: 10.1038/ng.3469. p.130 left column bottom paragraph & p.131 left column top paragraphPubMed ID26656846
Method Abstract: "[Researchers] investigated genome-wide mutation rates and spectra in multi-sibling families."
Comments P.130 left column bottom paragraph: "[Investigators] sequenced the genomes of three multi-sibling families, identified candidate DNMs [de novo mutations] and validated 768 of them by targeted resequencing. Both the average genome-wide mutation rate of 1.28 × 10^−8 mutations per nucleotide per generation and the ratio of paternal to maternal mutations (3.5) are slightly higher than but compatible with previous estimates [ref 6]. On average, the number of mutations in the child increased approximately linearly by 2.9 mutations with each additional year in the parents' ages. The magnitude of this effect differed by a factor of greater than two between families." P.131 left column top paragraph: "Whereas all DNMs showed a 3.5:1 ratio of paternal to maternal mutations, these early mutations were compatible with a 1:1 ratio of paternal and maternal origin, as might be expected given the occurrence of these mutations before sexual differentiation of the embryo."
Entered by Uri M
ID 112462