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

Center for BioTechnology Genomics

Research output: Contribution to journal › Article › peer-review

385 Scopus citations

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
Pages (from-to)	763-771
Number of pages	9
Journal	American Journal of Human Genetics
Volume	82
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2007.12.011
State	Published - Mar 3 2008

Access to Document

10.1016/j.ajhg.2007.12.011

Link to publication in Scopus

Fingerprint Dive into the research topics of 'Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles'. Together they form a unique fingerprint.

Cite this

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), 763-771. https://doi.org/10.1016/j.ajhg.2007.12.011

Bruder, Carl E.G. ; Piotrowski, Arkadiusz ; Gijsbers, Antoinet A.C.J. ; Andersson, Robin ; Erickson, Stephen ; Diaz de Ståhl, Teresita ; Menzel, Uwe ; Sandgren, Johanna ; von Tell, Desiree ; Poplawski, Andrzej ; Crowley, Michael ; Crasto, Chiquito ; Partridge, E. Christopher ; Tiwari, Hemant ; Allison, David B. ; Komorowski, Jan ; van Ommen, Gert Jan B. ; Boomsma, Dorret I. ; Pedersen, Nancy L. ; den Dunnen, Johan T. ; Wirdefeldt, Karin ; Dumanski, Jan P. / Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles. In: American Journal of Human Genetics. 2008 ; Vol. 82, No. 3. pp. 763-771.

@article{181ca2de5dd44828822113331f73c537,

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.",

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.}",

year = "2008",

month = mar,

day = "3",

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

language = "English",

volume = "82",

pages = "763--771",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

number = "3",

}

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, GJB, 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. 763-771. https://doi.org/10.1016/j.ajhg.2007.12.011

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles. / Bruder, Carl E.G.; Piotrowski, Arkadiusz; Gijsbers, Antoinet A.C.J.; Andersson, Robin; Erickson, Stephen; Diaz de Ståhl, Teresita; Menzel, Uwe; Sandgren, Johanna; von Tell, Desiree; Poplawski, Andrzej; Crowley, Michael; Crasto, Chiquito; Partridge, E. Christopher; Tiwari, Hemant; Allison, David B.; Komorowski, Jan; van Ommen, Gert Jan B.; Boomsma, Dorret I.; Pedersen, Nancy L.; den Dunnen, Johan T.; Wirdefeldt, Karin; Dumanski, Jan P.

In: American Journal of Human Genetics, Vol. 82, No. 3, 03.03.2008, p. 763-771.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

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 - 2008/3/3

Y1 - 2008/3/3

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.

UR - http://www.scopus.com/inward/record.url?scp=40849109768&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2007.12.011

DO - 10.1016/j.ajhg.2007.12.011

M3 - Article

C2 - 18304490

AN - SCOPUS:40849109768

VL - 82

SP - 763

EP - 771

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -