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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, The Linnaeus Centre for Bioinformatics.
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2008 (English)In: American Journal of Human Genetics, ISSN 0002-9297, Vol. 82, no 3, 763-71 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2008. Vol. 82, no 3, 763-71 p.
National Category
Biological Sciences
URN: urn:nbn:se:uu:diva-102333DOI: 10.1016/j.ajhg.2007.12.011ISI: 000254067800021PubMedID: 18304490OAI: oai:DiVA.org:uu-102333DiVA: diva2:214681
Available from: 2009-05-06 Created: 2009-05-06 Last updated: 2010-01-12Bibliographically approved

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de Ståhl, Teresita DiazDumanski, Jan P
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The Linnaeus Centre for BioinformaticsDepartment of Genetics and Pathology
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