Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP.Understanding Language from a Genomic Perspective. FOXP2 as a molecular window into speech and language. Citation on PubMed or Free article on PubMed Central Absence of a paternally inherited FOXP2 gene inĭevelopmental verbal dyspraxia. Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, SummersĪ, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B,.Researchers are working to determine which of these genes are involved and how changes in their activity lead to abnormal speech and language development. Because forkhead box P2 is a transcription factor, these changes affect the activity of other genes in the developing brain. The genetic changes that underlie FOXP2-related speech and language disorder disrupt the activity of the FOXP2 gene. It remains unclear how having two maternal copies of chromosome 7 affects the activity of the FOXP2 gene. Less commonly, FOXP2-related speech and language disorder results from a rearrangement of the structure of chromosome 7 (such as a translocation) or from inheriting two copies of chromosome 7 from the mother instead of one from each parent (a phenomenon called maternal uniparental disomy or maternal UPD). Other people with this condition have a mutation within the FOXP2 gene itself. Some affected individuals have a deletion that removes a small segment of chromosome 7, including the FOXP2 gene and several neighboring genes. Several changes involving the FOXP2 gene can result in FOXP2-related speech and language disorder, a condition that affects the development of speech and language starting in early childhood. Researchers are working to identify the genes regulated by forkhead box P2 that are critical for learning these skills.įOXP2-related speech and language disorder The forkhead box P2 protein appears to be essential for the normal development of speech and language. Synaptic plasticity is necessary for learning and memory.
It is also involved in synaptic plasticity, which is the ability of connections between neurons (synapses) to change and adapt to experience over time. Studies suggest that it plays important roles in brain development, including the growth of nerve cells (neurons) and the transmission of signals between them. The forkhead box P2 protein is active in several tissues, including the brain, both before and after birth. Researchers suspect that the forkhead box P2 protein may regulate hundreds of genes, although only some of its targets have been identified. It attaches (binds) to the DNA of these genes through a region known as a forkhead domain. This protein is a transcription factor, which means that it controls the activity of other genes. The FOXP2 gene provides instructions for making a protein called forkhead box P2.
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