FOXP2

1. 본문

FOXP2 (Forkhead Box P2) is a protein that, in humans, is encoded by the *FOXP2* gene. It belongs to the forkhead box family of transcription factors, which means it regulates gene expression by binding to DNA.
Discovery and History

• The *FOXP2* gene was first identified in 1998 by Simon Fisher, Anthony Monaco, and colleagues at Oxford University. It was discovered through investigations of a British family (the KE family), where half of the members across three generations exhibited a speech and language disorder called developmental verbal dyspraxia.
• In 2001, researchers identified that a mutation in the *FOXP2* gene was responsible for the disorder in the KE family, as well as in another unrelated individual with a similar condition. This made *FOXP2* the first gene to be implicated in a speech and language disorder.

• FOXP2 is a transcription factor that controls the activity of other genes. It is active in various tissues, including the brain, lungs, heart and digestive system.
• In the brain, FOXP2 plays a crucial role in the development of nerve cells and the connections between them (synapses). It is particularly important for synaptic plasticity, which is the ability of synapses to change and adapt over time, essential for learning and memory.
• FOXP2 is thought to be involved in motor-related circuits in the brain, including frontostriatal and frontocerebellar circuits.
• It is expressed in areas of the brain like the basal ganglia and inferior frontal cortex.
• Studies suggest that it is important for transforming new experiences into routine procedures, essential for language learning.

• Mutations in the *FOXP2* gene cause developmental verbal dyspraxia, a severe speech and language disorder. Individuals with this disorder have difficulty with the coordination of movements necessary for speech, as well as grammatical deficits.
• *FOXP2*-related speech and language disorder may also involve neighboring genes on chromosome 7.
• Research in mice has shown that those with only one functional copy of the *FOXP2* gene have significantly reduced vocalizations. Mice with no functional copies show abnormalities in brain regions and die prematurely due to lung development issues.

• FOXP2 is found in many vertebrates. It's been shown to play a role in vocal imitation in songbirds and echolocation in bats.