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

Autor:	Marc-André Legault, Louis-Philippe Lemieux Perreault, Frank Vitaro, Amina Barhdadi, Marie-Pierre Dubé, Cynthia V. Bourassa, Patrick A. Dion, Ginette Dionne, Michel Boivin, Amirthagowri Ambalavanan, Richard E. Tremblay, Mara Brendgen, Guy A. Rouleau, Anne Noreau, Simon Girard
Přispěvatelé:	Université de Montréal. Faculté de médecine. Département de psychiatrie et d'addictologie
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Male 0301 basic medicine medicine.risk_factor Twins lcsh:Medicine Genome Germline Database and Informatics Methods 0302 clinical medicine DNA library construction Genome Sequencing lcsh:Science Genetics Multidisciplinary Healthy subjects Genomics Middle Aged Genomic Databases Genomic Library Construction Germline Mutation Healthy individuals Female Sequence Analysis Research Article Adult Genotyping DNA Copy Number Variations Genotype DNA construction Biology Research and Analysis Methods Polymorphism Single Nucleotide Paternal Age Young Adult 03 medical and health sciences Germline mutation medicine Humans Paternal age effect Molecular Biology Techniques Sequencing Techniques Molecular Biology Germ-Line Mutation Mechanism (biology) lcsh:R Biology and Life Sciences Computational Biology Paternal age DNA Sequence Analysis DNA Genome Analysis Biological Databases 030104 developmental biology Mutation lcsh:Q Sequence Alignment 030217 neurology & neurosurgery Developmental Biology
Zdroj:	PLoS ONE, Vol 11, Iss 10, p e0164212 (2016) PLoS ONE
ISSN:	1932-6203
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de714987caca64386d9d19400b5cf675 http://europepmc.org/articles/PMC5056704?pdf=render Zobrazit plný text záznamu Plný text ve formátu PDF