Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits.

ABSTRACT: The most well-described example of an inherited speech and language disorder is that observed in the multigenerational KE family, caused by a heterozygous missense mutation in the FOXP2 gene. Affected individuals are characterized by deficits in the learning and production of complex orofacial motor sequences underlying fluent speech and display impaired linguistic processing for both spoken and written language. The FOXP2 transcription factor is highly similar in many vertebrate species, with conserved expression in neural circuits related to sensorimotor integration and motor learning. In this study, we generated mice carrying an identical point mutation to that of the KE family, yielding the equivalent arginine-to-histidine substitution in the Foxp2 DNA-binding domain. Homozygous R552H

SUBMITTER: Groszer M 

PROVIDER: S-EPMC2917768 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature