De Novo Mutations Reflect Development and Aging of the Human Germline

J M Goldmann; J A Veltman; C Gilissen

doi:10.1016/j.tig.2019.08.005

De Novo Mutations Reflect Development and Aging of the Human Germline

Trends Genet. 2019 Nov;35(11):828-839. doi: 10.1016/j.tig.2019.08.005. Epub 2019 Oct 11.

Authors

J M Goldmann¹, J A Veltman², C Gilissen³

Affiliations

¹ Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.
² Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.
³ Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands. Electronic address: Christian.gilissen@radboudumc.nl.

PMID: 31610893
DOI: 10.1016/j.tig.2019.08.005

Abstract

Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of genetic diseases. In the past few years, whole-genome sequencing (WGS) of parent-offspring trios has facilitated the large-scale detection and study of human DNMs, which has led to exciting discoveries. The overarching theme of all of these studies is that the DNMs of an individual are a complex mixture of mutations that arise through different biological processes acting at different times during human development and life.

Keywords: aging; de novo mutation; embryonic development; germline.

Publication types

Review

MeSH terms

Aging* / genetics
Alleles
DNA Replication
Embryonic Development / genetics
Female
Genome, Human
Genomics / methods
Germ Cells* / metabolism
Germ-Line Mutation*
Human Development
Humans
Male
Maternal Age
Mosaicism
Mutation*