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    FOXP2 Gene

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    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Forkhead box P2

    1. Normal Function

    The FOXP2 gene provides instructions for making a protein called forkhead box P2. This protein is a transcription factor, which means that it controls the activity of other genes. It attaches (binds) to the DNA of these genes through a region known as a forkhead domain. Researchers suspect that the forkhead box P2 protein may regulate hundreds of genes, although only some of its targets have been identified.

    The forkhead box P2 protein is active in several tissues, including the brain, both before and after birth. Studies suggest that it plays important roles in brain development, including the growth of nerve cells (neurons) and the transmission of signals between them. It is also involved in synaptic plasticity, which is the ability of connections between neurons (synapses) to change and adapt to experience over time. Synaptic plasticity is necessary for learning and memory.

    The forkhead box P2 protein appears to be essential for the normal development of speech and language. Researchers are working to identify the genes regulated by forkhead box P2 that are critical for learning these skills.

    2. Health Conditions Related to Genetic Changes

    2.1 FOXP2-Related Speech and Language Disorder

    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. Some affected individuals have a deletion that removes a small segment of chromosome 7, including the FOXP2 gene and several neighboring genes. Other people with this condition have a mutation within the FOXP2 gene itself. 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). It remains unclear how having two maternal copies of chromosome 7 affects the activity of the FOXP2 gene.

    The genetic changes that underlie FOXP2-related speech and language disorder disrupt the activity of the FOXP2 gene. Because forkhead box P2 is a transcription factor, these changes affect the activity of other genes in the developing brain. Researchers are working to determine which of these genes are involved and how changes in their activity lead to abnormal speech and language development.

    3. Other Names for This Gene

    • CAG repeat protein 44

    • CAGH44

    • forkhead/winged-helix transcription factor

    • SPCH1

    • TNRC10

    • trinucleotide repeat containing 10

    This entry is adapted from https://medlineplus.gov/genetics/gene/foxp2

    References

    1. Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B,Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J,Scherer SW, Hannula-Jouppi K. Absence of a paternally inherited FOXP2 gene indevelopmental verbal dyspraxia. Am J Hum Genet. 2006 Nov;79(5):965-72.
    2. Fisher SE, Scharff C. FOXP2 as a molecular window into speech and language.Trends Genet. 2009 Apr;25(4):166-77. doi: 10.1016/j.tig.2009.03.002.
    3. Graham SA, Fisher SE. Understanding Language from a Genomic Perspective. Annu Rev Genet. 2015;49:131-60. doi: 10.1146/annurev-genet-120213-092236.
    4. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domaingene is mutated in a severe speech and language disorder. Nature. 2001 Oct4;413(6855):519-23.
    5. MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F,McKenzie F, Smith RL, Monaco AP, Fisher SE. Identification of FOXP2 truncation asa novel cause of developmental speech and language deficits. Am J Hum Genet. 2005Jun;76(6):1074-80.
    6. Mueller KL, Murray JC, Michaelson JJ, Christiansen MH, Reilly S, Tomblin JB.Common Genetic Variants in FOXP2 Are Not Associated with Individual Differencesin Language Development. PLoS One. 2016 Apr 11;11(4):e0152576. doi:10.1371/journal.pone.0152576.
    7. Vernes SC, Oliver PL, Spiteri E, Lockstone HE, Puliyadi R, Taylor JM, Ho J,Mombereau C, Brewer A, Lowy E, Nicod J, Groszer M, Baban D, Sahgal N, Cazier JB, Ragoussis J, Davies KE, Geschwind DH, Fisher SE. Foxp2 regulates gene networksimplicated in neurite outgrowth in the developing brain. PLoS Genet. 2011Jul;7(7):e1002145. doi: 10.1371/journal.pgen.1002145.
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