New observations on maternal age effect on germline de novo mutations

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 and John E. Niederhuber
Additional contact information
Wendy S. W. Wong: Inova Translational Medicine Institute, Inova Health System
Benjamin D. Solomon: Inova Translational Medicine Institute, Inova Health System
Dale L. Bodian: Inova Translational Medicine Institute, Inova Health System
Prachi Kothiyal: Inova Translational Medicine Institute, Inova Health System
Greg Eley: Inova Translational Medicine Institute, Inova Health System
Kathi C. Huddleston: Inova Translational Medicine Institute, Inova Health System
Robin Baker: Inova Children’s Hospital, Inova Health System
Dzung C. Thach: Inova Translational Medicine Institute, Inova Health System
Ramaswamy K. Iyer: Inova Translational Medicine Institute, Inova Health System
Joseph G. Vockley: Inova Translational Medicine Institute, Inova Health System
John E. Niederhuber: Inova Translational Medicine Institute, Inova Health System

Nature Communications, 2016, vol. 7, issue 1, 1-10

Abstract: 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.

Date: 2016
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms10486 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms10486

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms10486

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().