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 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	American Journal of Human Genetics
Vol/bind	82
Udgave nummer	3
Sider (fra-til)	763-71
Antal sider	9
ISSN	0002-9297
DOI	https://doi.org/10.1016/j.ajhg.2007.12.011
Status	Udgivet - mar. 2008
Udgivet eksternt	Ja

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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, bind 82, nr. 3, s. 763-71. https://doi.org/10.1016/j.ajhg.2007.12.011

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title = "Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles",

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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author = "Bruder, {Carl E G} and Arkadiusz Piotrowski and Gijsbers, {Antoinet A C J} and Robin Andersson and Stephen Erickson and {Diaz de St{\aa}hl}, Teresita and Uwe Menzel and Johanna Sandgren and {von Tell}, Desiree and Andrzej Poplawski and Michael Crowley and Chiquito Crasto and Partridge, {E Christopher} and Hemant Tiwari and Allison, {David B} and Jan Komorowski and {van Ommen}, {Gert-Jan B} and Boomsma, {Dorret I} and Pedersen, {Nancy L} and {den Dunnen}, {Johan T} and Karin Wirdefeldt and Dumanski, {Jan P}",

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doi = "10.1016/j.ajhg.2007.12.011",

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T1 - Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

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

PY - 2008/3

Y1 - 2008/3

N2 - 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.

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.

KW - Chromosomes, Human

KW - DNA

KW - Female

KW - Genetic Variation

KW - Humans

KW - Male

KW - Neurodegenerative Diseases

KW - Oligonucleotide Array Sequence Analysis

KW - Phenotype

KW - Twins, Monozygotic

U2 - 10.1016/j.ajhg.2007.12.011

DO - 10.1016/j.ajhg.2007.12.011

M3 - Journal article

C2 - 18304490

SN - 0002-9297

VL - 82

SP - 763

EP - 771

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -

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

Abstract

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