User:Jacuza20
In human molecular biology, a protein transcription factor FOXP2 is encoded from the Forkhead Box P2 gene region located on chromosome 7 (7q31). The transcriptional targets of FOXP2 range from many areas inside the brain.[1]More specifically, FOXP2 transcribes regions in the human basal ganglia and inferior frontal cortex, which are crucial for brain maturation, lung development, and speech and language development.[2] FOXP2 is also the primary gene that separates Homo sapiens from chimpanzees by the substitution of two amino acids, Threonine to Asparagine and Asparagine to Serine. The substitutions occurred as a result of the separate evolutionary lineages between humans and chimpanzees. There are several abnormalities linked to FOXP2, but the most common mutation results in a modified form of FOXP2. This modified FOXP2 is associated with severe speech impairment known as developmental verbal dyspraxia which is caused by a translocation in the 7q31.2 region [t(5;7)(q22;q31.2)].[3][4]. Recently, scientists have been using a knockout mouse model to examine FOXP2’s role in brain development and how mutations in the two copies of FOXP2 affect vocalization. Mutations in one copy cause reduced speech and abnormalities in both copies cause major brain and lung developmental issues.[5] Scientists are also running tests on knockout mice to determine exactly how FOXP2 is expressed. A hypothesis suggests that FOXP2 is expressed through post-transcriptional regulation, particularly micro RNA, which binds to multiple miRNA binding-sites in the neocortex, causing the repression of FOXP2 3’UTR.[6]
- ^ Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S. L., Wiebe, V., Kitano, T., Monaco, A. P., Paabo, S. Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418: 869-872, 2002.
- ^ Spiteri, E., Konopka, G., Coppola, G., Bomar, J., Oldham, M., Ou, J., Vernes, S. C., Fisher, S. E., Ren, B., Geschwind, D. H.Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain.Am. J. Hum. Genet. 81: 1144-1157, 2007.
- ^ Lai, C. S. L., Fisher, S. E., Hurst, J. A., Levy, E. R., Hodgson, S., Fox, M., Jeremiah, S., Povey, S., Jamison, D. C., Green, E. D., Vargha-Khadem, F., Monaco, A. P. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am. J. Hum. Genet. 67: 357-368, 2000.
- ^ Lai, C. S. L., Fisher, S. E., Hurst, J. A., Vargha-Khadem, F., Monaco, A. P. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413: 519-523, 2001.
- ^ Weiguo Shu, Min Min Lu, Yuzhen Zhang, Philip W. Tucker, Deying Zhou, and Edward E. Morrisey Foxp2 and Foxp1 cooperatively regulate lung and esophagus development Development 2007 134:1991-2000; posted ahead of print April 11, 2007,doi:10.1242/dev.02846
- ^ Yoanne M. Clovis, Wolfgang Enard, Federica Marinaro, Wieland B. Huttner, and Davide De Pietri Tonelli. Convergent repression of Foxp2 3′UTR by miR-9 and miR-132 in embryonic mouse neocortex: implications for radial migration of neurons Development 2012 139:3332-3342; posted ahead of print August 8, 2012,doi:10.1242/dev.078063