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PLoS One. 2016 Oct 10;11(10):e0164212. doi: 10.1371/journal.pone.0164212. eCollection 2016.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

Author information

1
Département des sciences fondamentales, Université du Québec à Chicoutimi, Saguenay, Canada.
2
Montreal Neurological Institute, McGill University, Montreal, Canada.
3
Centre de Pharmacogénomique Beaulieu-Saucier, Institut de Cardiologie de Montréal, Montreal, Quebec, Canada et Faculté de Médecine, Université de Montréal, Montréal, Canada.
4
Département de Psychologie, Université du Québec à Montréal, Montreal, Canada.
5
Département de Psychologie de l'éducation, Université de Montréal, Montreal, Canada.
6
École de Psychologie, Université Laval, Quebec, Canada.
7
School of Public Health, University College of Dublin, Dublin, Ireland.
8
Pediatrics and Psychology, University of Montreal, Montréal, Canada.

Abstract

De novo mutations (DNM) are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observation that increasing paternal age increases the risk for a number of diseases. Using disease-free familial quartets we show that there is a strong positive correlation between paternal age and germline DNM in healthy subjects. We also observed that germline CNVs do not follow the same trend, suggesting a different mechanism. Finally, we observed that DNM were not evenly distributed across the genome, which adds support to the existence of DNM hotspots.

PMID:
27723766
PMCID:
PMC5056704
DOI:
10.1371/journal.pone.0164212
[Indexed for MEDLINE]
Free PMC Article

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