| Range |
~2 (on average 2.9 DNM with each additional year in parents' ages) additional mutations per paternal year
|
| 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.126 left column bottom paragraphPubMed ID26656846
|
| Primary Source |
[6] Kong, A. et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 488, 471–475 (2012). doi: 10.1038/nature11396.PubMed ID22914163
|
| Comments |
P.126 left column bottom paragraph: "In 1947, J.B.S. Haldane noted that the mutation rate of the hemophilia-associated gene is significantly higher in men than in women [ref 10]. Recent genome sequencing studies have confirmed Haldane's observation that the male germ line is more mutagenic [ref 5, primary source 6, refs 7, 8, 11]. On average, each additional year in father's age at conception results in ~2 additional DNMs in the child [primary source]." For value of 2.9 [with additional year in either parents' age] see p.130 left column bottom paragraph: "[Investigators] sequenced the genomes of three multi-sibling families, identified candidate DNMs 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 [primary source]. 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." |
| Entered by |
Uri M |
| ID |
112457 |