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Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles
Open accessAbstract
The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
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Epigenetic differences arise during the lifetime of monozygotic twins
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Mechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316
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Metadata
- Authors
- Bruder, C. E. G., Piotrowski, A., Gijsbers, A. A. C. J., Andersson, R., Erickson, S., Diaz de Ståhl, T., Menzel, U., Sandgren, J., von Tell, D., Poplawski, A., Crowley, M., Crasto, C., Partridge, E. C., Tiwari, H., Allison, D. B., Komorowski, J., van Ommen, G.-J. B., Boomsma, D. I., Pedersen, N. L., den Dunnen, J. T., Wirdefeldt, K., & Dumanski, J. P.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-03
- Volume
- 82
- Issue
- 3
- Pages
- 763-771
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1964013868
- Cited by
- 599
- References
- 4
- FWCI
- 37.09
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Bruder, C. E. G., Piotrowski, A., Gijsbers, A. A. C. J., Andersson, R., Erickson, S., Diaz de Ståhl, T., Menzel, U., Sandgren, J., von Tell, D., Poplawski, A., Crowley, M., Crasto, C., Partridge, E. C., Tiwari, H., Allison, D. B., Komorowski, J., van Ommen, G.-J. B., Boomsma, D. I., Pedersen, N. L., . . . Dumanski, J. P. (2008). Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2007.12.011
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
