Differences between germline genomes of monozygotic twins - PubMed (original) (raw)

doi: 10.1038/s41588-020-00755-1. Epub 2021 Jan 7.

Erna Magnusdottir 2, Hannes P Eggertsson 3, Olafur A Stefansson 3, Gudny A Arnadottir 3, Ogmundur Eiriksson 3, Florian Zink 3, Einar A Helgason 3, Ingileif Jonsdottir 3, Arnaldur Gylfason 3, Adalbjorg Jonasdottir 3, Aslaug Jonasdottir 3, Doruk Beyter 3, Thora Steingrimsdottir 2, Gudmundur L Norddahl 3, Olafur Th Magnusson 3, Gisli Masson 3, Bjarni V Halldorsson 3 4, Unnur Thorsteinsdottir 3 2, Agnar Helgason 3 5, Patrick Sulem 3, Daniel F Gudbjartsson 6 7, Kari Stefansson 8 9

Affiliations

Differences between germline genomes of monozygotic twins

Hakon Jonsson et al. Nat Genet. 2021 Jan.

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.

PubMed Disclaimer

Comment in

Similar articles

Cited by

References

    1. Van Dongen, J., Slagboom, P. E., Draisma, H. H. M., Martin, N. G. & Boomsma, D. I. The continuing value of twin studies in the omics era. Nat. Rev. Genet. 13, 640–653 (2012). - DOI
    1. Vadlamudi, L. et al. Timing of de novo mutagenesis: a twin study of sodium-channel mutations. N. Engl. J. Med. 363, 1335–1340 (2010). - DOI
    1. Ehli, E. A. et al. De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on attention problems. Eur. J. Hum. Genet. 20, 1037–1043 (2012). - DOI
    1. Baranzini, S. E. et al. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 464, 1351–1356 (2010). - DOI
    1. Dal, G. M. et al. Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair. J. Med. Genet. 51, 455–459 (2014). - DOI

Publication types

MeSH terms

LinkOut - more resources