| Range |
Figure - link
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| 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. Supplementary Information p.1 Supplementary figure 1PubMed ID26656846
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| Primary Source |
[17] Lupski, J.R. Genetics. Genome mosaicism—one human, multiple genomes. Science 341, 358–359 (2013). doi: 10.1126/science.1239503.PubMed ID23888031
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| Comments |
P.126 right column 3rd paragraph: "The germ line comprises a lineage of different cellular contexts, from the zygote to the gamete [primary source](Supplementary Fig. 1). Postzygotic mutations can potentially lead to germline mosaicism. Observing apparent DNMs [de novo mutations] shared by siblings—predominantly in studies of dominant disorders—has provided direct evidence for germline mosaicism [ref 18]. Although recent studies have determined the average germline mutation rate and estimated the average effect of paternal age, a deeper understanding of germline mutational rates and spectra and the underlying mutational processes remains elusive. For example, it is not known whether mutation spectra differ between paternal and maternal germ lines, whether mutation rates and spectra vary significantly between families, or whether different stages of the cellular lineage from the zygote to the gamete differ in their mutation rates and spectra." See notes beneath figure |
| Entered by |
Uri M |
| ID |
112460 |