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Human genetics

Not-so-identical twins

Nature Reviews Genetics volume 9, pages 250–251 (2008)Cite this article

To ascertain the frequency of somatic mosaicism for CNVs, Bruder et al. studied ten pairs of concordant, unselected MZ twins and nine pairs of selected MZ twins that were discordant for a neurodegenerative phenotype. Genotyping on two platforms — the 32K BAC array and the Illumina HumanHap300-Duo BeadChip system — revealed many loci that were suggestive of putative CNVs. For example, among the discordant twins, the authors describe structural variation affecting chromosomes 4 and 11, both of which have been previously described in conjunction with chronic lymphocytic leukaemia. Further investigation revealed that one of the twins in question had in fact been diagnosed with this disease, demonstrating the capability of this approach to (re)diagnose disease.

Because structural differences were also observed in concordant twins, the study has important implications for the predictive value of de novo CNVs, which are usually thought of as causal of a given disease. Because structural variation might be more common in somatic development than previously thought, inferences of causality as well as interpretation of data from a single tissue type should be made with caution. The authors point out another important implication of their work — their results “question the long standing notion that MZ twins are essentially genetically identical and open up new possibilities in the use of discordant MZ twins for identifying regions harboring disease- or trait-influencing loci”.

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References

ORIGINAL RESEARCH PAPER

  1. Bruder, C. E. G. et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am. J. Hum. Genet. 82, 763–771 (2008)

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FURTHER READING

  1. Feuk, L. et al. Structural variation in the human genome. Nature Rev. Genet. 7, 85–97 (2006)

    Article  CAS  Google Scholar 

  2. Beckmann, J. et al. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nature Rev. Genet. 8, 639–646 (2007)

    Article  CAS  Google Scholar 

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Authors
  1. Magdalena Skipper
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Skipper, M. Not-so-identical twins. Nat Rev Genet 9, 250–251 (2008). https://doi.org/10.1038/nrg2356

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  • DOI: https://doi.org/10.1038/nrg2356

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