Characterization of an enhancer element that regulates FOXP2 expression in human cerebellum

Human cerebellum is involved not only in motor control but also in several cognitive skills. In this work, our goal was to identify genomic enhancers responsible for the regulation of genes implicated in the development of this brain region. From an initial collection of Vista elements showing specific enhancer activity in mouse hindbrain, we found an enhancer element located within the final intron of FOXP2 , a gene expressed in cerebellum and implicated in vocal communication and speech and language disorders in humans. Analysis of this enhancer using various computational resources suggests that it is a strong candidate to account for FOXP2 expression during cerebellar development. Two blocks within this region are deeply conserved in vertebrates; they are separated by a microsatellite sequence present only in eutherian mammals, and expanded in human genomes.