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

Research output: Contribution to journal › Journal article › Research › peer-review

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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, 03.2008, p. 763-71.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

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

APA

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

Vancouver

Bruder CEG, Piotrowski A, Gijsbers AACJ, Andersson R, Erickson S, Diaz de Ståhl T et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. American Journal of Human Genetics. 2008 Mar;82(3):763-71. https://doi.org/10.1016/j.ajhg.2007.12.011

Author

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. 763-71.

Bibtex

@article{c8cc0a5524b447eaa94dbcfff7861d11,
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.",
keywords = "Chromosomes, Human, DNA, Female, Genetic Variation, Humans, Male, Neurodegenerative Diseases, Oligonucleotide Array Sequence Analysis, Phenotype, Twins, Monozygotic",
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,
doi = "10.1016/j.ajhg.2007.12.011",
language = "English",
volume = "82",
pages = "763--71",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "3",

}

RIS

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

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

VL - 82

SP - 763

EP - 771

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -

ID: 106776181