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2009 ; 25
(7
): 298-307
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Complex human chromosomal and genomic rearrangements
#MMPMID19560228
Zhang F
; Carvalho CM
; Lupski JR
Trends Genet
2009[Jul]; 25
(7
): 298-307
PMID19560228
show ga
Copy number variation (CNV) is a major source of genetic variation among humans.
In addition to existing as benign polymorphisms, CNVs can also convey clinical
phenotypes, including genomic disorders, sporadic diseases and complex human
traits. CNV results from genomic rearrangements that can represent simple
deletion or duplication of a genomic segment, or be more complex. Complex
chromosomal rearrangements (CCRs) have been known for some time but their
mechanisms have remained elusive. Recent technology advances and high-resolution
human genome analyses have revealed that complex genomic rearrangements can
account for a large fraction of non-recurrent rearrangements at a given locus.
Various mechanisms, most of which are DNA-replication-based, for example fork
stalling and template switching (FoSTeS) and microhomology-mediated break-induced
replication (MMBIR), have been proposed for generating such complex genomic
rearrangements and are probably responsible for CCR.
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