ArticlePloS one2011
Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins.Journal of assisted reproduction and genetics · 2025Article
- High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients.Frontiers in genetics · 2023Article
- Somatic copy number variants in neuropsychiatric disorders.Current opinion in genetics & development · 2021Review
- Genetic and environmental factors of schizophrenia and autism spectrum disorder: insights from twin studies.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia.Frontiers in psychiatry · 2020Review
- NRDE-2, the human homolog of fission yeast Nrl1, prevents DNA damage accumulation in human cells.RNA biology · 2018Article
- Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia.Clinical and translational medicine · 2017Article
- Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing.Chinese medical journal · 2016Article
- Subjectivity: A Case of Biological Individuation and an Adaptive Response to Informational Overflow.Frontiers in psychology · 2016Article
- It is time to take timing seriously in clinical genetics.European journal of human genetics : EJHG · 2015Article
- DNA methylation differences in monozygotic twin pairs discordant for schizophrenia identifies psychosis related genes and networks.BMC medical genomics · 2015Article
- A Bayesian framework for de novo mutation calling in parents-offspring trios.Bioinformatics (Oxford, England) · 2015Article
- Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations.Scientific reports · 2015Article
- Stochastic developmental variation, an epigenetic source of phenotypic diversity with far-reaching biological consequences.Journal of biosciences · 2015Review
- Consciousness: individuated information in action.Frontiers in psychology · 2015Article
- Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.Frontiers in genetics · 2015Article
- BiDil in the Clinic: An Interdisciplinary Investigation of Physicians' Prescription Patterns of a Race-Based Therapy.AJOB empirical bioethics · 2014Article
- Rare autosomal copy number variations in early-onset familial Alzheimer's disease.Molecular psychiatry · 2014Article
- Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.BMC bioinformatics · 2014Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Genetic individuality is the foundation of personalized medicine, yet its determinants are currently poorly understood. One issue is the difference between monozygotic twins that are assumed identical and have been extensively used in genetic studies for decades. Here, we report genome-wide alterations in two nuclear families each with a pair of monozygotic twins discordant for schizophrenia evaluated by the Affymetrix 6.0 human SNP array. The data analysis includes characterization of copy number variations (CNVs) and single nucleotide polymorphism (SNPs). The results have identified genomic differences between twin pairs and a set of new provisional schizophrenia genes. Samples were found to have between 35 and 65 CNVs per individual. The majority of CNVs (~80%) represented gains. In addition, ~10% of the CNVs were de novo (not present in parents), of these, 30% arose during parental meiosis and 70% arose during developmental mitosis. We also observed SNPs in the twins that were absent from both parents. These constituted 0.12% of all SNPs seen in the twins. In 65% of cases these SNPs arose during meiosis compared to 35% during mitosis. The developmental mitotic origin of most CNVs that may lead to MZ twin discordance may also cause tissue differences within individuals during a single pregnancy and generate a high frequency of mosaics in the population. The results argue for enduring genome-wide changes during cellular transmission, often ignored in most genetic analyses.
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Registered trials
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