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Using iPSCs and genomics to catch CNVs in the act

Nature Genetics volume 47, pages 100–101 (2015)Cite this article

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Large copy number variants (CNVs) are strongly associated with morphogenetic processes and common neurodevelopmental disorders. A new study uses the example of Williams-Beuren syndrome (WBS) and Williams-Beuren region duplication syndrome to illustrate how induced pluripotent stem cells (iPSCs) and next-generation genomics can lead to a better understanding of complex genetics.

There are typically dozens of genes within the boundaries of a large CNV, and identifying which are relevant to the disease under study is a monumental challenge. Existing approaches have limitations, and a complementing concept would be very useful. Animal models are powerful tools for neurophysiology, but it is not clear how far they can be taken in the modeling of higher brain functions and complex behavior in humans8,9. Primary tissues such as adult autopsy brain or blood in many ways provide the correct context for studying the effects of large CNVs, but only by means of a snapshot of their effects. Adult autopsy tissues will probably be less useful in identifying when and how during brain development a large CNV contributes to the disease phenotype. Meanwhile, blood samples will only show those effects of a large CNV that are either relevant to blood or not cell-type specific.

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Figure 1: Analyzing the molecular effects of CNVs using iPSC models and genomics.

Marina Corral Spence/Nature Publishing Group

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Authors and Affiliations

  1. Alexander Eckehart Urban and Carolin Purmann are in the Departments of Psychiatry and Behavioral Sciences and the Department of Genetics, Stanford University, Stanford, California, USA.,

    Alexander Eckehart Urban & Carolin Purmann

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  1. Alexander Eckehart Urban
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  2. Carolin Purmann
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Correspondence to Alexander Eckehart Urban.

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Urban, A., Purmann, C. Using iPSCs and genomics to catch CNVs in the act. Nat Genet 47, 100–101 (2015). https://doi.org/10.1038/ng.3204

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