Girard Simon, Bourassa C. V., Lemieux Perreault L. P., Legault M. A., Barhdadi A., Ambalavanan A., Brendgen M., Vitaro F., Noreau A., Dionne G., Tremblay R. E., Dion P. A., Boivin Michel, Dubé M. P. et Rouleau G. A.. (2016). Paternal age explains a major portion of De novo germline mutation rate variability in healthy individuals. PLoS ONE, 11, (10), e0164212.
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URL officielle: http://dx.doi.org/doi:10.1371/journal.pone.0164212
Résumé
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.
| Type de document: | Article publié dans une revue avec comité d'évaluation |
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| Volume: | 11 |
| Numéro: | 10 |
| Pages: | e0164212 |
| Version évaluée par les pairs: | Oui |
| Date: | 2016 |
| Sujets: | Sciences de la santé > Sciences médicales > Génétique |
| Département, module, service et unité de recherche: | Départements et modules > Département des sciences fondamentales |
| Mots-clés: | De novo mutation, DNM, paternal age, germline mutation, disease |
| Déposé le: | 30 août 2019 00:07 |
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| Dernière modification: | 09 mai 2023 15:49 |
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