This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. It likely causes problems if it is mutated in children. Mutations cause high levels of mortality.[3]
Cajal Retzius Cell development is regulated by Foxg1
FOXG1 syndrome
FOXG1 syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an Autism Spectrum Disorder and was previously considered a variant of Rett Syndrome.[4][5]
↑Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U (Nov 1994). "Human brain factor 1, a new member of the fork head gene family". Genomics. 21 (3): 551–7. doi:10.1006/geno.1994.1313. PMID7959731.
↑Bredenkamp N, Seoighe C, Illing N (Feb 2007). "Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation". Dev Genes Evol. 217 (3): 227–33. doi:10.1007/s00427-006-0128-x. PMID17260156.
↑Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID12657635.
Further reading
Li J, Chang HW, Lai E, Parker EJ, Vogt PK (1995). "The oncogene qin codes for a transcriptional repressor". Cancer Res. 55 (23): 5540–4. PMID7585630.
Wiese S, Murphy DB, Schlung A, Burfeind P, Schmundt D, Schnülle V, Mattei MG, Thies U (1995). "The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q". Biochim. Biophys. Acta. 1262 (2–3): 105–12. doi:10.1016/0167-4781(95)00059-p. PMID7599184.
Huh S, Hatini V, Marcus RC, Li SC, Lai E (1999). "Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression". Dev. Biol. 211 (1): 53–63. doi:10.1006/dbio.1999.9303. PMID10373304.
Dou CL, Li S, Lai E (1999). "Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres". Cereb. Cortex. 9 (6): 543–50. doi:10.1093/cercor/9.6.543. PMID10498272.
Rodriguez C, Huang LJ, Son JK, McKee A, Xiao Z, Lodish HF (2001). "Functional cloning of the proto-oncogene brain factor-1 (BF-1) as a Smad-binding antagonist of transforming growth factor-beta signaling". J. Biol. Chem. 276 (32): 30224–30. doi:10.1074/jbc.M102759200. PMID11387330.
Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID12657635.
Seoane J, Le HV, Shen L, Anderson SA, Massagué J (2004). "Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation". Cell. 117 (2): 211–23. doi:10.1016/S0092-8674(04)00298-3. PMID15084259.
Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM (2005). "Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly". Hum. Genet. 117 (6): 536–44. doi:10.1007/s00439-005-1310-3. PMID16133170.
