We have previously shown that most beta-defensin genes on 8p23.1 (including those that encode hBD-2 and hBD-3) are subject to copy number variation.
Linkage analysis has shown that a marker near CUP1, which encodes a copper-binding protein that mediates resistance to copper stress, segregates with copper sulfate resistance; CUP1 is also subject to copy-number variation between strains [27].
A substantial portion of the genome is subject to "copy number variation"—differences across individuals in number of copies of a chromosomal segment at least 1000 bases long (i.e., rather than possessing 2 copies of the segment, possessing 0, 1, 3 or more).
GSTM1 and GSTT1 have previously been reported to be subject to copy number variation influencing gene expression [ 62, 63].
The Hp junction region and a reference sequence in TP53 not subject to copy number variation were coamplified by PCR.
In this regard, the IRB is a good approach to start understanding the potential genotype-phenotype relationships of regions subject to copy-number changes.
The Gesture Span task (Canavan et al., 1989) requires the subject to copy sequences of hand gestures of increasing length up to five gestures.
Human alpha- and beta-defensin genes are subject to copy number variation (CNV) and historically the organization of mouse alpha-defensin genes has been poorly defined.
While the number of genes in the 3′-portion of the region is relatively stable, genes at the 5′-end are apparently subject to copy number variation.
These duplications are unstable in the genome, and subject to copy number polymorphisms, both within the human population and between humans and chimpanzees [ 15, 16].
One explanation put forward to explain this apparent contradiction was that, in the YRI population, the USH2A locus is subject to copy number variation (Matsuzaki et al. 2009) that could provide functional complementation of the mutant gene.
