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Abstract
An increasing number of human diseases are recognized to result from recurrent DNA
rearrangements involving unstable genomic regions. These are termed genomic disorders,
in which the clinical phenotype is a consequence of abnormal dosage of gene(s) located
within the rearranged genomic fragments. Both inter- and intrachromosomal rearrangements
are facilitated by the presence of region-specific low-copy repeats (LCRs) and result
from nonallelic homologous recombination (NAHR) between paralogous genomic segments.
LCRs usually span approximately 10-400 kb of genomic DNA, share >or= 97% sequence
identity, and provide the substrates for homologous recombination, thus predisposing
the region to rearrangements. Moreover, it has been suggested that higher order genomic
architecture involving LCRs plays a significant role in karyotypic evolution accompanying
primate speciation.