Copy number variation: new insights in genome diversity.
DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. Since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases.
Freeman
Jennifer L
JL
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Perry
George H
GH
Feuk
Lars
L
Redon
Richard
R
McCarroll
Steven A
SA
Altshuler
David M
DM
Aburatani
Hiroyuki
H
Jones
Keith W
KW
Tyler-Smith
Chris
C
Hurles
Matthew E
ME
Carter
Nigel P
NP
Scherer
Stephen W
SW
Lee
Charles
C
D000818:Animals; D005075:Biological Evolution; D002874:Chromosome Mapping; D018628:Gene Dosage; D015870:Gene Expression; D015894:Genome, Human; D006801:Humans; D010641:Phenotype