Translational implications of CHRFAM7A, an elusive human-restricted fusion gene

Genes restricted to humans may contribute to human-specific traits and provide a different context for diseases. CHRFAM7A is a uniquely human fusion gene and a negative regulator of the alpha 7 nicotinic acetylcholine receptor (alpha 7 nAChR). The alpha 7 nAChR has been a promising target for diseases affecting cognition and higher cortical functions, however, the treatment effect observed in animal models failed to translate into human clinical trials. As CHRFAM7A was not accounted for in preclinical drug screens it may have contributed to the translational gap. Understanding the complex genetic architecture of the locus, deciphering the functional impact of CHRFAM7A on alpha 7 nAChR neurobiology and utilizing human-relevant models may offer novel approaches to explore alpha 7 nAChR as a drug target.