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Neurons from the 22q11 mouse model (right) have fewer spines than normal mouse (left).
A specific gene in the chromosomal region 22q11 is important for normal brain connectivity and synapse formation, and its absence may lead to schizophrenia, researchers are reporting today in Nature Neuroscience. The same team first linked a deletion in the chromosomal region to the disorder 13 years ago.
This approach of honing in on an individual gene’s effect on the mouse brain, experts predict, will become more common as scientists identify more copy number variations (CNVs) — duplications or deletions of a stretch of DNA — relevant to schizophrenia and autism.
In the past year, geneticists have identified 20 unique CNVs by scanning the genomes of people with spontaneous — or non-inherited — schizophrenia. Some of these variations are so rare they may occur only in a single individual. Others, such as microdeletions in the 22q11 chromosomal region, are more widespread.
