Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Carl E G Bruder; 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

doi:10.1016/j.ajhg.2007.12.011

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Carl E G Bruder, 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 DunnenKarin Wirdefeldt, Jan P Dumanski

387 Citations (Scopus)

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.

Original language	English
Journal	American Journal of Human Genetics
Volume	82
Issue number	3
Pages (from-to)	763-71
Number of pages	9
ISSN	0002-9297
DOIs	https://doi.org/10.1016/j.ajhg.2007.12.011
Publication status	Published - Mar 2008
Externally published	Yes

Keywords

Chromosomes, Human
DNA
Female
Genetic Variation
Humans
Male
Neurodegenerative Diseases
Oligonucleotide Array Sequence Analysis
Phenotype
Twins, Monozygotic

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Bruder, C. E. G., Piotrowski, A., Gijsbers, A. A. C. J., Andersson, R., Erickson, S., Diaz de Ståhl, T., Menzel, U., Sandgren, J., von Tell, D., Poplawski, A., Crowley, M., Crasto, C., Partridge, E. C., Tiwari, H., Allison, D. B., Komorowski, J., van Ommen, G.-J. B., Boomsma, D. I., Pedersen, N. L., ... Dumanski, J. P. (2008). Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. American Journal of Human Genetics, 82(3), 763-71. https://doi.org/10.1016/j.ajhg.2007.12.011

Bruder, CEG, Piotrowski, A, Gijsbers, AACJ, Andersson, R, Erickson, S, Diaz de Ståhl, T, Menzel, U, Sandgren, J, von Tell, D, Poplawski, A, Crowley, M, Crasto, C, Partridge, EC, Tiwari, H, Allison, DB, Komorowski, J, van Ommen, G-JB, Boomsma, DI, Pedersen, NL, den Dunnen, JT, Wirdefeldt, K & Dumanski, JP 2008, 'Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles', American Journal of Human Genetics, vol. 82, no. 3, pp. 763-71. https://doi.org/10.1016/j.ajhg.2007.12.011

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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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AU - Bruder, Carl E G

AU - Piotrowski, Arkadiusz

AU - Gijsbers, Antoinet A C J

AU - Andersson, Robin

AU - Erickson, Stephen

AU - Diaz de Ståhl, Teresita

AU - Menzel, Uwe

AU - Sandgren, Johanna

AU - von Tell, Desiree

AU - Poplawski, Andrzej

AU - Crowley, Michael

AU - Crasto, Chiquito

AU - Partridge, E Christopher

AU - Tiwari, Hemant

AU - Allison, David B

AU - Komorowski, Jan

AU - van Ommen, Gert-Jan B

AU - Boomsma, Dorret I

AU - Pedersen, Nancy L

AU - den Dunnen, Johan T

AU - Wirdefeldt, Karin

AU - Dumanski, Jan P

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AB - 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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KW - DNA

KW - Female

KW - Genetic Variation

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KW - Male

KW - Neurodegenerative Diseases

KW - Oligonucleotide Array Sequence Analysis

KW - Phenotype

KW - Twins, Monozygotic

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DO - 10.1016/j.ajhg.2007.12.011

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ER -

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Abstract

Keywords

UN SDGs

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