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PMID: 18304490 Published · ppublish English Comparative Study Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Twin Study

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

American journal of human genetics ·Vol. 82 ·No. 3 ·2008-03-00 ·Pages 763-71

Bruder CE, Piotrowski A, Gijsbers AA, 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 GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP

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.

MeSH Terms
Chromosomes, Human/genetics DNA/chemistry,genetics Female Genetic Variation Humans Male Neurodegenerative Diseases/genetics Oligonucleotide Array Sequence Analysis Phenotype Twins, Monozygotic/genetics
Chemicals
DNA
Authors & Affiliations
22 authors, click to expand affiliations / ORCID
Bruder Carl E G
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA. [email protected]
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
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
1537-6605
DOI
10.1016/j.ajhg.2007.12.011
Email
[email protected]
Published
2008-03-00
Epub
2008-00-14
Pages
763-71
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC2427204
Subset
IM
Grants
NIDDK NIH HHS · 3P30DK056336-05S2 · United States
NIEHS NIH HHS · R01 ES010758 · United States
NIEHS NIH HHS · R01 ES009912 · United States
NIEHS NIH HHS · 5R01ES009912-08 · United States
NIDDK NIH HHS · P30 DK056336 · United States
NIEHS NIH HHS · ES10758 · United States
NHLBI NIH HHS · T32 HL072757 · United States
NHLBI NIH HHS · 5T32HL072757-04 · United States
Databases
GEO
GSE9609
External Links
PubMed source DOI: 10.1016/j.ajhg.2007.12.011 PMC Full Text View journal details
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