Brett Abrahams, PhD (born March 3, 1973) is a geneticist and neuroscientist involved in the identification and subsequent functional characterization of the autism-related gene CNTNAP2 with Dan Geschwind at UCLA.
One particular target that is directly downregulated by FOXP2 in human neurons is the CNTNAP2 gene, a member of the neurexin family; variants in this target gene have been associated with common forms of language impairment.
On the other hand, analysis of FOXP2, using the chromatin immunoprecipitation technique, revealed that it binds onto and directly down-regulates expression of CNTNAP2, a gene found to be associated with nonsense-word repetition, a major marker of SLI.
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Importantly, knowledge of such genes, e.g. CNTNAP2, and also those that regulate FOXP2, will enable better understanding of FOXP2’s role in speech and language, the genetic makeup of these processes themselves and ultimately why the gene is under such positive selection.
A Pitt–Hopkins like phenotype has been assigned to autosomal recessive mutations of the contactin associated protein like 2 (CNTNAP2) gene on the long arm of chromosome 7 (7q33-q36) and the neurexin 1 alpha (NRXN1) gene on the short arm of chromosome 2 (2p16.3).
CNTNAP2 |