How Can Studies of Animals Help to Uncover the Roles of Genes Implicated in Human Speech and Language Disorders?

The mysterious human propensity for acquiring speech and language has fascinated scientists for decades. A substantial body of evidence suggests that this capacity is rooted in aspects of neurodevelopment that are specified at the genomic level. Researchers have begun to identify genetic factors that increase susceptibility to developmental disorders of speech and language, thereby offering the first molecular entry points into neuronal mechanisms underlying human vocal communication. The identification of genetic variants influencing language acquisition facilitates the analysis of animal models in which the corresponding orthologs are disrupted. At face value, the situation raises a perplexing question: if speech and language are uniquely human, can any relevant insights be gained from investigations of gene function in other species? This chapter addresses the question using the example of FOXP2, a gene implicated in a severe monogenic speech and language disorder. FOXP2 encodes a transcription factor that is highly conserved in vertebrate species, both in terms of protein sequence and expression patterns. Current data suggest that an earlier version of this gene, present in the common ancestor of humans, rodents, and birds, was already involved in establishing neuronal circuits underlying sensory–motor integration and learning of complex motor sequences. This may have represented one of the factors providing a permissive neural environment for subsequent evolution of vocal learning. Thus, dissection of neuromolecular pathways regulated by Foxp2 in nonlinguistic species is a necessary prerequisite for understanding the role of the human version of the gene in speech and language.