Under the Influence: An overview of recent insights into the CNTNAP2 gene

In my last post I outlined a number of experimental studies using the Zebra Finch that have highlighted an additional dimension to the FoxP2 gene – not only is it upregulated in the avian brain throughout song development, but it is also downregulated in important song nuclei of adult birds in singing contexts that seem to involve ‘listening to one’s own song’ and subsequent error correction.  Given that the pattern of expression of this gene is very similar in the developing brain of both humans and birds, one conclusion that has been drawn from this research is that FOXP2 downregulation may equivocally serve to facilitate online language processing function in the adult human brain.

General background on an intriguing new celebrity

Naturally, the next step has been to try and identify the downstream genes regulated by FOXP2 in order to build up a more detailed picture of how interactions between complex genetic networks influence key language-related disorders in humans.   It is as a result of such efforts that another gene, although discovered almost a decade ago, has found its way into the spotlight: CNTNAP2.

In the developing human brain, CNTNAP2 is enriched in functionally specialised regions such as the frontal cortex, the stratium, and the dorsal thalamus (circuits within these regions are referred to as cortico-striato-thalmic circuits) central to executive function, planning and executing complex sequential movements, and thus potentially, language.  This presents a striking contrast to the more uniform expression of Cntnap2 observed in the developing rodent brain where there is no evidence for enrichment in specific regions, suggesting a functional difference in the human version that could be related to vocal learning and modification.

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