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Rate of de novo mutations and the importance of father's age to disease risk.

Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. We... Full description

Journal Title: Nature August 23, 2012, Vol.488(7412), pp.471-475
Main Author: Kong, Augustine
Other Authors: Frigge, Michael L , Masson, Gisli , Besenbacher, Soren , Sulem, Patrick , Magnusson, Gisli , Gudjonsson, Sigurjon A , Sigurdsson, Asgeir , Jonasdottir, Aslaug , Jonasdottir, Adalbjorg , Wong, Wendy S W , Sigurdsson, Gunnar , Walters, G Bragi , Steinberg, Stacy , Helgason, Hannes , Thorleifsson, Gudmar , Gudbjartsson, Daniel F , Helgason, Agnar , Magnusson, Olafur Th , Thorsteinsdottir, Unnur , Stefansson, Kari
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1476-4687 ; DOI: 10.1038/nature11396
Link: http://search.proquest.com/docview/1035104202/?pq-origsite=primo
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title: Rate of de novo mutations and the importance of father's age to disease risk.
format: Article
creator:
  • Kong, Augustine
  • Frigge, Michael L
  • Masson, Gisli
  • Besenbacher, Soren
  • Sulem, Patrick
  • Magnusson, Gisli
  • Gudjonsson, Sigurjon A
  • Sigurdsson, Asgeir
  • Jonasdottir, Aslaug
  • Jonasdottir, Adalbjorg
  • Wong, Wendy S W
  • Sigurdsson, Gunnar
  • Walters, G Bragi
  • Steinberg, Stacy
  • Helgason, Hannes
  • Thorleifsson, Gudmar
  • Gudbjartsson, Daniel F
  • Helgason, Agnar
  • Magnusson, Olafur Th
  • Thorsteinsdottir, Unnur
  • Stefansson, Kari
subjects:
  • Adult–Epidemiology
  • Autistic Disorder–Etiology
  • Chromosomes, Human–Genetics
  • Female–Genetics
  • Genetic Predisposition to Disease–Genetics
  • Genome, Human–Epidemiology
  • Humans–Metabolism
  • Iceland–Genetics
  • Male–Epidemiology
  • Middle Aged–Etiology
  • Mothers–Genetics
  • Mutation Rate–Genetics
  • Ovum–Metabolism
  • Paternal Age–Metabolism
  • Pedigree–Metabolism
  • Polymorphism, Single Nucleotide–Metabolism
  • Risk Factors–Metabolism
  • Schizophrenia–Metabolism
  • Selection, Genetic–Metabolism
  • Sequence Analysis, DNA–Metabolism
  • Spermatozoa–Metabolism
  • Young Adult–Metabolism
ispartof: Nature, August 23, 2012, Vol.488(7412), pp.471-475
description: Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. We show that in our samples, with an average father's age of 29.7, the average de novo mutation rate is 1.20 x [10.sup.-8] per nucleotide per generation. Most notably, the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year. An exponential model estimates paternal mutations doubling every 16.5 years. After accounting for random Poisson variation, father's age is estimated to explain nearly all of the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism.
language: eng
source:
identifier: E-ISSN: 1476-4687 ; DOI: 10.1038/nature11396
fulltext: fulltext
issn:
  • 14764687
  • 1476-4687
url: Link


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titleRate of de novo mutations and the importance of father's age to disease risk.
creatorKong, Augustine ; Frigge, Michael L ; Masson, Gisli ; Besenbacher, Soren ; Sulem, Patrick ; Magnusson, Gisli ; Gudjonsson, Sigurjon A ; Sigurdsson, Asgeir ; Jonasdottir, Aslaug ; Jonasdottir, Adalbjorg ; Wong, Wendy S W ; Sigurdsson, Gunnar ; Walters, G Bragi ; Steinberg, Stacy ; Helgason, Hannes ; Thorleifsson, Gudmar ; Gudbjartsson, Daniel F ; Helgason, Agnar ; Magnusson, Olafur Th ; Thorsteinsdottir, Unnur ; Stefansson, Kari
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ispartofNature, August 23, 2012, Vol.488(7412), pp.471-475
identifierE-ISSN: 1476-4687 ; DOI: 10.1038/nature11396
subjectAdult–Epidemiology ; Autistic Disorder–Etiology ; Chromosomes, Human–Genetics ; Female–Genetics ; Genetic Predisposition to Disease–Genetics ; Genome, Human–Epidemiology ; Humans–Metabolism ; Iceland–Genetics ; Male–Epidemiology ; Middle Aged–Etiology ; Mothers–Genetics ; Mutation Rate–Genetics ; Ovum–Metabolism ; Paternal Age–Metabolism ; Pedigree–Metabolism ; Polymorphism, Single Nucleotide–Metabolism ; Risk Factors–Metabolism ; Schizophrenia–Metabolism ; Selection, Genetic–Metabolism ; Sequence Analysis, DNA–Metabolism ; Spermatozoa–Metabolism ; Young Adult–Metabolism
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descriptionMutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. We show that in our samples, with an average father's age of 29.7, the average de novo mutation rate is 1.20 x [10.sup.-8] per nucleotide per generation. Most notably, the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year. An exponential model estimates paternal mutations doubling every 16.5 years. After accounting for random Poisson variation, father's age is estimated to explain nearly all of the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism.
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titleRate of de novo mutations and the importance of father's age to disease risk.
authorKong, Augustine ; Frigge, Michael L ; Masson, Gisli ; Besenbacher, Soren ; Sulem, Patrick ; Magnusson, Gisli ; Gudjonsson, Sigurjon A ; Sigurdsson, Asgeir ; Jonasdottir, Aslaug ; Jonasdottir, Adalbjorg ; Wong, Wendy S W ; Sigurdsson, Gunnar ; Walters, G Bragi ; Steinberg, Stacy ; Helgason, Hannes ; Thorleifsson, Gudmar ; Gudbjartsson, Daniel F ; Helgason, Agnar ; Magnusson, Olafur Th ; Thorsteinsdottir, Unnur ; Stefansson, Kari
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