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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles |
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| Authors: | Bruder Carl E G Piotrowski Arkadiusz Gijsbers Antoinet A C J Andersson Robin Erickson Stephen Diaz de Ståhl Teresita Menzel Uwe Sandgren Johanna von Tell Desiree Poplawski Andrzej Crowley Michael Crasto Chiquito Partridge E Christopher Tiwari Hemant Allison David B Komorowski Jan van Ommen Gert-Jan B Boomsma Dorret I Pedersen Nancy L den Dunnen Johan T Wirdefeldt Karin Dumanski Jan P |
| Affiliation: | 1 Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA 2 Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), 2300 RC Leiden, The Netherlands 3 Center for Medical Systems Biology, 2300 RA Leiden, The Netherlands 4 Linnaeus Centre for Bioinformatics, Uppsala University, SE-75124 Uppsala, Sweden 5 Section on Statistical Genetics, Department of Biostatistics, University of Alabama at Birmingham, Ryals Public Health Building, Suite 327, Birmingham, Alabama 35294-0022, USA 6 Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, SE-751 85 Uppsala, Sweden 7 Department of Surgical Sciences, Uppsala Academic Hospital, Uppsala University, SE-751 85 Uppsala, Sweden 8 Department of Biological Psychology, VU University, Van der Boechorststraat 1, 1081 BT Amsterdam, The Netherlands 9 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, SE-171 77 Stockholm, Sweden |
| Abstract: | 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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