Differences between germline genomes of monozygotic twins

被引：88

作者：

Jonsson, Hakon ^{[1
]}

Magnusdottir, Erna ^{[2
]}

Eggertsson, Hannes P. ^{[1
]}

Stefansson, Olafur A. ^{[1
]}

Arnadottir, Gudny A. ^{[1
]}

Eiriksson, Ogmundur ^{[1
]}

Zink, Florian ^{[1
]}

Helgason, Einar A. ^{[1
]}

Jonsdottir, Ingileif ^{[1
]}

Gylfason, Arnaldur ^{[1
]}

Jonasdottir, Adalbjorg ^{[1
]}

Jonasdottir, Aslaug ^{[1
]}

Beyter, Doruk ^{[1
]}

Steingrimsdottir, Thora ^{[2
]}

Norddahl, Gudmundur L. ^{[1
]}

Magnusson, Olafur Th. ^{[1
]}

Masson, Gisli ^{[1
]}

Halldorsson, Bjarni V. ^{[1
,3
]}

Thorsteinsdottir, Unnur ^{[1
,2
]}

Helgason, Agnar ^{[1
,4
]}

Sulem, Patrick ^{[1
]}

Gudbjartsson, Daniel F. ^{[1
,5
]}

Stefansson, Kari ^{[1
,2
]}

机构：

[1] deCODE Genet Amgen, Reykjavik, Iceland

[2] Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland

[3] Reykjavik Univ, Sch Sci & Engn, Reykjavik, Iceland

[4] Univ Iceland, Dept Anthropol, Reykjavik, Iceland

[5] Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland

来源：

NATURE GENETICS | 2021年 / 53卷 / 01期

关键词：

DE-NOVO; MUTATIONS;

D O I：

10.1038/s41588-020-00755-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Whole-genome sequencing of monozygotic twins, along with their parents, spouses and children, identifies postzygotic mutations present in the somatic tissue of one twin, but not the other, and characterizes differences in the number and timing of these mutations.

引用

页码：27 / 34

页数：17

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