ArticleHuman mutation2018
A characterization of postzygotic mutations identified in monozygotic twins.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Differential expression of long non-coding RNAs can effectively distinguish monozygotic twins.International journal of legal medicine · 2026Article
- Advanced molecular techniques in distinguishing monozygotic twins for forensic applications.Genes & genomics · 2026Review
- Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins.DNA research : an international journal for rapid publication of reports on genes and genomes · 2024Article
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- On the etiology of aesthetic chills: a behavioral genetic study.Scientific reports · 2022Article
- Retinal layer thickness in preclinical Alzheimer's disease.Acta ophthalmologica · 2019Article
- Article
- A characterization of postzygotic mutations identified in monozygotic twins.Human mutation · 2018Article
- Genome-wide analysis of DNA methylation in buccal cells: a study of monozygotic twins and mQTLs.Epigenetics & chromatin · 2018Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Postzygotic mutations are DNA changes acquired from the zygote stage onwards throughout the lifespan. These changes lead to differences in DNA sequence among cells of an individual, potentially contributing to the etiology of complex disorders. Here we compared whole genome DNA sequence data of two monozygotic twin pairs, 40 and 100 years old, to detect somatic mosaicism. DNA samples were sequenced twice on two Illumina platforms (13X and 40X read depth) for increased specificity. Using differences in allelic ratios resulted in sets of 1,720 and 1,739 putative postzygotic mutations in the 40-year-old twin pair and 100-year-old twin pair, respectively, for subsequent enrichment analysis. This set of putative mutations was strongly (p < 4.37e-91) enriched in both twin pairs for regulatory elements. The corresponding genes were significantly enriched for genes that are alternatively spliced, and for genes involved in GTPase activity. This research shows that somatic mosaicism can be detected in monozygotic twin pairs by using allelic ratios calculated from DNA sequence data and that the mutations which are found by this approach are not randomly distributed throughout the genome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.