New observations on maternal age effect on germline de novo mutations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-01-19

AUTHORS

Wendy S. W. Wong, Benjamin D. Solomon, Dale L. Bodian, Prachi Kothiyal, Greg Eley, Kathi C. Huddleston, Robin Baker, Dzung C. Thach, Ramaswamy K. Iyer, Joseph G. Vockley, John E. Niederhuber

ABSTRACT

Germline mutations are the source of evolution and contribute substantially to many health-related processes. Here we use whole-genome deep sequencing data from 693 parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring. Our estimate for the mutation rate per base pair per generation is 1.05 × 10(-8), well within the range of previous studies. We show that maternal age has a small but significant correlation with the total number of DNMs in the offspring after controlling for paternal age (0.51 additional mutations per year, 95% CI: 0.29, 0.73), which was not detectable in the smaller and younger parental cohorts of earlier studies. Furthermore, while the total number of DNMs increases at a constant rate for paternal age, the contribution from the mother increases at an accelerated rate with age.These observations have implications related to the incidence of de novo mutations relating to maternal age. More... »

PAGES

10486

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ncomms10486

DOI

http://dx.doi.org/10.1038/ncomms10486

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1021691588

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26781218


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