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Chunk #56 — Variable Expressivity of CNV Genotype: Genes Don’t Code for Behavior

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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Compared to behavior, neuroanatomical features are more analogous between model organisms and human, and the neuroanatomical effects of CNVs might be as well. For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions. A recent study has shown that over expression of human genes from the 16p11.2 CNV region in zebrafish influences brain size (Nicholas Katsanis, http://www.schizophreniaforum.org/new/detail.asp?id=1694), consistent with the observations in human and mouse.