Differences between germline genomes of monozygotic twins

Hákon Jónsson*, Erna Magnúsdóttir, Hannes P. Eggertsson, Ólafur A. Stefánsson, Guðný A. Árnadóttir, Ögmundur Eiríksson, Florian Zink, Einar A. Helgason, Ingileif Jónsdóttir, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Doruk Beyter, Þóra Steingrímsdóttir, Guðmundur L. Nordðahl, Olafur T Magnusson, Gisli Masson, Bjarni Vilhjálmur Halldórsson, Unnur Thorsteinsdottir, Agnar Sturla HelgasonPatrick Sulem, Daníel F. Guðbjartsson, Kári Stefánsson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Despite the important role that monozygotic twins have played in genetics research, little is known about their genomic differences. Here we show that monozygotic twins differ on average by 5.2 early developmental mutations and that approximately 15% of monozygotic twins have a substantial number of these early developmental mutations specific to one of them. Using the parents and offspring of twins, we identified pre-twinning mutations. We observed instances where a twin was formed from a single cell lineage in the pre-twinning cell mass and instances where a twin was formed from several cell lineages. CpG>TpG mutations increased in frequency with embryonic development, coinciding with an increase in DNA methylation. Our results indicate that allocations of cells during development shapes genomic differences between monozygotic twins.

Original languageEnglish
Pages (from-to)27-34
Number of pages8
JournalNature Genetics
Volume53
Issue number1
DOIs
Publication statusPublished - Jan 2021

Bibliographical note

Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.

Other keywords

  • Embryonic development
  • Genome, Human
  • Twins, Monozygotic
  • Mutation

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