Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
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.
Bruder
Carl E G
CE
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA. cbruder@genetics.uab.edu
Piotrowski
Arkadiusz
A
Gijsbers
Antoinet A C J
AA
Andersson
Robin
R
Erickson
Stephen
S
Diaz de Ståhl
Teresita
T
Menzel
Uwe
U
Sandgren
Johanna
J
von Tell
Desiree
D
Poplawski
Andrzej
A
Crowley
Michael
M
Crasto
Chiquito
C
Partridge
E Christopher
EC
Tiwari
Hemant
H
Allison
David B
DB
Komorowski
Jan
J
van Ommen
Gert-Jan B
GJ
Boomsma
Dorret I
DI
Pedersen
Nancy L
NL
den Dunnen
Johan T
JT
Wirdefeldt
Karin
K
Dumanski
Jan P
JP
D002877:Chromosomes, Human / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D019636:Neurodegenerative Diseases / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D014430:Twins, Monozygotic / Q000235:genetics*
D004247:DNA