Literature DB >> 23104062

Older males beget more mutations.

Matthew Hurles1.   

Abstract

Three papers characterizing human germline mutation rates bolster evidence for a relatively low rate of base substitution in modern humans and highlight a central role for paternal age in determining rates of mutation. These studies represent the advent of a transformation in our understanding of mutation rates and processes, which may ultimately have public health implications.

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Year:  2012        PMID: 23104062     DOI: 10.1038/ng.2448

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  14 in total

1.  Estimate of the mutation rate per nucleotide in humans.

Authors:  M W Nachman; S L Crowell
Journal:  Genetics       Date:  2000-09       Impact factor: 4.562

2.  De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

Authors:  Jayne Y Hehir-Kwa; Benjamín Rodríguez-Santiago; Lisenka E Vissers; Nicole de Leeuw; Rolph Pfundt; Jan K Buitelaar; Luis A Pérez-Jurado; Joris A Veltman
Journal:  J Med Genet       Date:  2011-10-03       Impact factor: 6.318

3.  The mutation rate of the gene for haemophilia, and its segregation ratios in males and females.

Authors:  J B S HALDANE
Journal:  Ann Eugen       Date:  1947-06

4.  Variation in genome-wide mutation rates within and between human families.

Authors:  Donald F Conrad; Jonathan E M Keebler; Mark A DePristo; Sarah J Lindsay; Yujun Zhang; Ferran Casals; Youssef Idaghdour; Chris L Hartl; Carlos Torroja; Kiran V Garimella; Martine Zilversmit; Reed Cartwright; Guy A Rouleau; Mark Daly; Eric A Stone; Matthew E Hurles; Philip Awadalla
Journal:  Nat Genet       Date:  2011-06-12       Impact factor: 38.330

5.  Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Authors:  Jared C Roach; Gustavo Glusman; Arian F A Smit; Chad D Huff; Robert Hubley; Paul T Shannon; Lee Rowen; Krishna P Pant; Nathan Goodman; Michael Bamshad; Jay Shendure; Radoje Drmanac; Lynn B Jorde; Leroy Hood; David J Galas
Journal:  Science       Date:  2010-03-10       Impact factor: 47.728

6.  Characterising and predicting haploinsufficiency in the human genome.

Authors:  Ni Huang; Insuk Lee; Edward M Marcotte; Matthew E Hurles
Journal:  PLoS Genet       Date:  2010-10-14       Impact factor: 5.917

Review 7.  Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human.

Authors:  J B Drost; W R Lee
Journal:  Environ Mol Mutagen       Date:  1995       Impact factor: 3.216

8.  Estimating the human mutation rate using autozygosity in a founder population.

Authors:  Catarina D Campbell; Jessica X Chong; Maika Malig; Arthur Ko; Beth L Dumont; Lide Han; Laura Vives; Brian J O'Roak; Peter H Sudmant; Jay Shendure; Mark Abney; Carole Ober; Evan E Eichler
Journal:  Nat Genet       Date:  2012-09-23       Impact factor: 38.330

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

Authors:  Augustine Kong; Michael L Frigge; Gisli Masson; Soren Besenbacher; Patrick Sulem; Gisli Magnusson; Sigurjon A Gudjonsson; Asgeir Sigurdsson; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Wendy S W Wong; Gunnar Sigurdsson; G Bragi Walters; Stacy Steinberg; Hannes Helgason; Gudmar Thorleifsson; Daniel F Gudbjartsson; Agnar Helgason; Olafur Th Magnusson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962

10.  Assessing the evolutionary impact of amino acid mutations in the human genome.

Authors:  Adam R Boyko; Scott H Williamson; Amit R Indap; Jeremiah D Degenhardt; Ryan D Hernandez; Kirk E Lohmueller; Mark D Adams; Steffen Schmidt; John J Sninsky; Shamil R Sunyaev; Thomas J White; Rasmus Nielsen; Andrew G Clark; Carlos D Bustamante
Journal:  PLoS Genet       Date:  2008-05-30       Impact factor: 5.917

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  6 in total

1.  Two sides of the coin.

Authors: 
Journal:  Nat Genet       Date:  2012-12       Impact factor: 38.330

2.  Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Authors:  Ian M Campbell; Jonathan R Stewart; Regis A James; James R Lupski; Paweł Stankiewicz; Peter Olofsson; Chad A Shaw
Journal:  Am J Hum Genet       Date:  2014-09-18       Impact factor: 11.025

3.  Parental age affects somatic mutation rates in the progeny of flowering plants.

Authors:  Amit Kumar Singh; Tufail Bashir; Christian Sailer; Viswanathan Gurumoorthy; Anantha Maharasi Ramakrishnan; Shanmuhapreya Dhanapal; Ueli Grossniklaus; Ramamurthy Baskar
Journal:  Plant Physiol       Date:  2015-03-25       Impact factor: 8.340

4.  Paternal lifestyle as a potential source of germline mutations transmitted to offspring.

Authors:  Joost O Linschooten; Nicole Verhofstad; Kristine Gutzkow; Ann-Karin Olsen; Carole Yauk; Yvonne Oligschläger; Gunnar Brunborg; Frederik J van Schooten; Roger W L Godschalk
Journal:  FASEB J       Date:  2013-03-28       Impact factor: 5.191

5.  2012 highlights in translational 'omics.

Authors:  Charles Auffray; Timothy Caulfield; Muin J Khoury; James R Lupski; Matthias Schwab; Timothy Veenstra
Journal:  Genome Med       Date:  2013-01-31       Impact factor: 11.117

6.  Fitness Consequences of Advanced Ancestral Age over Three Generations in Humans.

Authors:  Adam D Hayward; Virpi Lummaa; Georgii A Bazykin
Journal:  PLoS One       Date:  2015-06-01       Impact factor: 3.240

  6 in total

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