Although it is usually associated with language, FOXP2 expressions is not limited to brain regions (Preuss 2012). FOXP2 is a protein that, “is expressed in the perisylvian cortical region, the striatum, cortex of the frontal and occipital pole, thalamus, cerebellum, brainstem, and a wide variety of tissues other than the brain” (Preuss 2012). Its actual location of the gene is on chromosome 7 at 7q31 at the SPCH7 locus (wiki). A member of the winged helix transcription factor family, FOXP2, is characterized by a highly conserved forkhead (Fox) domain that binds to distinct DNA sequences in its target genes regulatory regions (Scharff and Petri 2011). This protein “regulates the transcription of other genes… it could be involved in the formation…show more content… “The FOXP2 gene was first discovered when the KE family in England was identified with an inherited defect of speech in three generations. The defect followed a pattern consistent with an autosomal dominant mutation, being present in approximately half the family members, both male and female” (Preuss 2012). The affected family members exhibited dysfluent, often simplified, speech, with difficulty constructing grammatical sentences (Preuss 2012). “By screening the coding regions of FOXP2 with restriction-fragment mapping and direct sequencing, were able to identify the mutation shared by affected KE family members, which would result in an arginine-to- histidine substitution at position 553 (R553H)” (Preuss 2012). FOXP2 was the first gene casually related to a fairly specific speech and language phenotype, called developmental verbal dyspraxia (Scharff et al, 2011). “Different mutations of FOXP2 give rise to slightly different development processes in the cerebral areas in which the genes expressed… this could be due to their effects on language- related endophenotypes” (Benitez- Burraco, 2012). “The primary pathology associated with the FOXP2 mutation seems to be located in the basal ganglia; while their functions are largely motor and cognitive,…show more content… As one grows older, we start forming, or try to form, these sounds and gestures into words. Human communication can be verbal, using words or non-verbal, such as cries, sighs, laughter, and gestures. During the evolution of vocal learners, once the striatum got connected to other regions necessary for vocal learning to occur, FOXP2 mutated in humans to become human specific and this might have affected neural transmission (Preuss 2012). “FOXP2 is among the genes likely to have undergone positive selection in human evolution, based on the ratio of non-synonymous to synonymous nucleotide changes in genes for which sequence information was available for humans, chimpanzees, and other species” (Preuss, 2012). “FOXP2 transcription factor and the regulatory molecular network that it interacts with may be part of a molecular toolkit that is essential for sensory-guided motor learning in cortico-striatal and cortico-cerebral circuits in humans, mice and songbirds and maybe even invertebrates” (Preuss, 2012). The protein has been studied with the vocals of songbirds, mice, and language between chimpanzees to further understand the function of FOXP2 in humans. This gene undergoes an alternative from of maturation in all species examined to date, and because of this, it gives rise to different protein isoforms which seem to play different physiological roles (Benitiez- Burraco, 2012).
