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.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA. cbruder@genetics.uab.edu
authors.forename: Carl E G
authors.initials: CE
authors.lastname: Bruder
authors.forename: Arkadiusz
authors.initials: A
authors.lastname: Piotrowski
authors.forename: Antoinet A C J
authors.initials: AA
authors.lastname: Gijsbers
authors.forename: Robin
authors.initials: R
authors.lastname: Andersson
authors.forename: Stephen
authors.initials: S
authors.lastname: Erickson
authors.forename: Teresita
authors.initials: T
authors.lastname: Diaz de Ståhl
authors.forename: Uwe
authors.initials: U
authors.lastname: Menzel
authors.forename: Johanna
authors.initials: J
authors.lastname: Sandgren
authors.forename: Desiree
authors.initials: D
authors.lastname: von Tell
authors.forename: Andrzej
authors.initials: A
authors.lastname: Poplawski
authors.forename: Michael
authors.initials: M
authors.lastname: Crowley
authors.forename: Chiquito
authors.initials: C
authors.lastname: Crasto
authors.forename: E Christopher
authors.initials: EC
authors.lastname: Partridge
authors.forename: Hemant
authors.initials: H
authors.lastname: Tiwari
authors.forename: David B
authors.initials: DB
authors.lastname: Allison
authors.forename: Jan
authors.initials: J
authors.lastname: Komorowski
authors.forename: Gert-Jan B
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: Dorret I
authors.initials: DI
authors.lastname: Boomsma
authors.forename: Nancy L
authors.initials: NL
authors.lastname: Pedersen
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: Karin
authors.initials: K
authors.lastname: Wirdefeldt
authors.forename: Jan P
authors.initials: JP
authors.lastname: Dumanski
mesh_terms: 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*
chemical_list: D004247:DNA