Seminar: Wolfgang Enard, Ph.D.
Thursday, February 19, 2009
1:00pm
Seminar Room 46-3189

"A Mouse Model for Human-specific Changes in FOXP2, a Gene Important for Speech and Language."

Analyses of the human genome and the genomes of our closest relatives can generate hypotheses about the genetic causes for phenotypic traits that set humans apart from our closest relatives. A current challenge is to explore to what extend such hypotheses can be further tested. One prominent hypothesis is that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution. Since humans that are heterozygous for a non-functional copy of FOXP2 have impairments in speech and language development, it has been proposed that the two amino acid changes affected some aspect of speech and language evolution. We have taken a first step towards analyzing the functional effects of these substitutions by introducing them into the endogenous Foxp2 gene in mice. We find brain-specific effects in cortico-basal ganglia circuits, which are partly opposite to the effects observed in mice heterozygous for a non-functional Foxp2. The results allow careful optimism that at least some aspects of human evolution can be explored in mouse models.