FOXG1 explained

Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.^{[1] [2] [3]}

Function

This gene belongs to the forkhead family of transcription factors that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of the brain and telencephalon. Mutations of FOXG1 are the cause of FoxG1 syndrome.^[4]

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.^{[5] [6]}

Interactions

FOXG1 has been shown to interact with JARID1B.^[7]

See also

• FOX proteins

References

Further reading

• Li J, Chang HW, Lai E, Parker EJ, Vogt PK . The oncogene qin codes for a transcriptional repressor . Cancer Res. . 55 . 23 . 5540–4 . 1995 . 7585630 .
• Wiese S, Murphy DB, Schlung A, Burfeind P, Schmundt D, Schnülle V, Mattei MG, Thies U . 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 . 1995 . 7599184 . 10.1016/0167-4781(95)00059-p .
• Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P . Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending . EMBO J. . 13 . 20 . 5002–12 . 1994 . 7957066 . 395442 . 10.1002/j.1460-2075.1994.tb06827.x.
• Li J, Vogt PK . The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head . Proc. Natl. Acad. Sci. U.S.A. . 90 . 10 . 4490–4 . 1993 . 8099441 . 46537 . 10.1073/pnas.90.10.4490 . 1993PNAS...90.4490L . free .
• Kastury K, Li J, Druck T, Su H, Vogt PK, Croce CM, Huebner K . The human homologue of the retroviral oncogene qin maps to chromosome 14q13 . Proc. Natl. Acad. Sci. U.S.A. . 91 . 9 . 3616–8 . 1994 . 8170957 . 43631 . 10.1073/pnas.91.9.3616 . 1994PNAS...91.3616K . free .
• Huh S, Hatini V, Marcus RC, Li SC, Lai E . 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 . 1999 . 10373304 . 10.1006/dbio.1999.9303 . free .
• Dou CL, Li S, Lai E . Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres . Cereb. Cortex . 9 . 6 . 543–50 . 1999 . 10498272 . 10.1093/cercor/9.6.543 . free .
• Dou C, Lee J, Liu B, Liu F, Massague J, Xuan S, Lai E . BF-1 Interferes with Transforming Growth Factor β Signaling by Associating with Smad Partners . Mol. Cell. Biol. . 20 . 17 . 6201–11 . 2000 . 10938097 . 86095 . 10.1128/MCB.20.17.6201-6211.2000 .
• Yao J, Lai E, Stifani S . The Winged-Helix Protein Brain Factor 1 Interacts with Groucho and Hes Proteins To Repress Transcription . Mol. Cell. Biol. . 21 . 6 . 1962–72 . 2001 . 11238932 . 86788 . 10.1128/MCB.21.6.1962-1972.2001 .
• Rodriguez C, Huang LJ, Son JK, McKee A, Xiao Z, Lodish HF . 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 . 2001 . 11387330 . 10.1074/jbc.M102759200 . free .
• Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS . 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 . 2003 . 12657635 . 10.1074/jbc.M301994200 . free .
• Seoane J, Le HV, Shen L, Anderson SA, Massagué J . Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation . Cell . 117 . 2 . 211–23 . 2004 . 15084259 . 10.1016/S0092-8674(04)00298-3 . free .
• Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM . Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly . Hum. Genet. . 117 . 6 . 536–44 . 2005 . 16133170 . 10.1007/s00439-005-1310-3 . 2819134 .

External links

• International FoxG1 Foundation Information for FOXG1 families
• FOXG1 Research Foundation Info on FOXG1 syndrome
• The Children's Rare Disorders Fund Info on FOXG1 syndrome

Notes and References

1. Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U . Human brain factor 1, a new member of the fork head gene family . Genomics . 21 . 3 . 551–7 . Nov 1994 . 7959731 . 10.1006/geno.1994.1313 .
2. Bredenkamp N, Seoighe C, Illing N . 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 . Feb 2007 . 17260156 . 10.1007/s00427-006-0128-x . 20867411 .
3. Web site: Entrez Gene: FOXG1B forkhead box G1B.
4. 2443837 . 18571142 . 10.1016/j.ajhg.2008.05.015 . 83 . 1 . FOXG1 is responsible for the congenital variant of Rett syndrome . 2008 . Am. J. Hum. Genet. . 89–93 . Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.
5. Web site: FOXG1 syndrome.
6. Web site: FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services.
7. Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS . 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 . Jun 2003 . 12657635 . 10.1074/jbc.M301994200 . free .