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Parental influence on human germline de novo mutations from 1,548 icelanders


Note: This research developed a new understanding of the influence of age and sex of parents on de novo mutations. The findings can be used to make inferences about long-term sex differences in the age of parents in populations or species. (Comment by Xiaoli Liu)

The characterization of mutational processes that generate sequence diversity in the human genome is of paramount importance both to medical genetics and to evolutionary studies.

One research group from University of Iceland analyzed the whole-genome sequencing data from 1,548 Icelanders to access differences in the rate and class of de novo mutations (DNM) transmitted by mothers and fathers. The study identified 108,778 high-quality DNMs, including bout single nucleotide polymorphisms and indels, and determined the parent of origin of 42,961. The number of DNMs from father was much higher than that from mother, which was 1.51 and 0.37 per year of age, respectively. However, the number of clustered mutations increases faster with the mother’s age than with the father’s, and the genomic span of maternal DNMs clusters is greater than that of paternal ones. The types of DNM from mothers change substantially with age. Remarkably, these age-related changes are not distributed uniformly across the genome.

Increased sequence diversity and linkage disequilibrium of C>G variants within regions affected by excess maternal mutations indicate that the underlying mutational process has persisted in humans for thousands of years.

Moreover, the regional excess of C>G variation in humans is largely shared by chimpanzees, less by gorillas, and is almost absent from orangutans.

The study demonstrates that sequence diversity in human results from evolving interactions between age, sex, mutation type, and genomic location.

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