| Literature DB >> 18304490 |
Carl E G Bruder1, Arkadiusz Piotrowski, Antoinet A C J Gijsbers, Robin Andersson, Stephen Erickson, Teresita Diaz de Ståhl, Uwe Menzel, Johanna Sandgren, Desiree von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E Christopher Partridge, Hemant Tiwari, David B Allison, Jan Komorowski, Gert-Jan B van Ommen, Dorret I Boomsma, Nancy L Pedersen, Johan T den Dunnen, Karin Wirdefeldt, Jan P Dumanski.
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.Entities:
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Year: 2008 PMID： 18304490 PMCID： PMC2427204 DOI： 10.1016/j.ajhg.2007.12.011
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025