Forkhead box C1
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.[1][2][3]
Function
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly.[1]
See also
References
- 1 2 "Entrez Gene: FOXC1 forkhead box C1".
- ↑ Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P (Oct 1994). "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending". The EMBO Journal 13 (20): 5002–12. PMC 395442. PMID 7957066.
- ↑ Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC (Jun 1998). "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25". Nature Genetics 19 (2): 140–7. doi:10.1038/493. PMID 9620769.
Further reading
- Sperling R, Bustin M (Jul 1975). "Dynamic equilibrium in histone assembly: self-assembly of single histones and histone pairs". Biochemistry 14 (15): 3322–31. doi:10.1021/bi00686a006. PMID 1170889.
- Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P (Oct 1994). "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending". The EMBO Journal 13 (20): 5002–12. PMC 395442. PMID 7957066.
- Hromas R, Moore J, Johnston T, Socha C, Klemsz M (Jun 1993). "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells". Blood 81 (11): 2854–9. PMID 8499623.
- Larsson C, Hellqvist M, Pierrou S, White I, Enerbäck S, Carlsson P (Dec 1995). "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)". Genomics 30 (3): 464–9. doi:10.1006/geno.1995.1266. PMID 8825632.
- Longhurst TJ, O'Neill GM, Harvie RM, Davey RA (Nov 1996). "The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line". British Journal of Cancer 74 (9): 1331–5. doi:10.1038/bjc.1996.545. PMC 2074757. PMID 8912525.
- Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA (Dec 1996). "Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25". American Journal of Human Genetics 59 (6): 1321–7. PMC 1914875. PMID 8940278.
- Gould DB, Mears AJ, Pearce WG, Walter MA (Sep 1997). "Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25". American Journal of Human Genetics 61 (3): 765–8. doi:10.1016/S0002-9297(07)64340-7. PMC 1715932. PMID 9326342.
- Jordan T, Ebenezer N, Manners R, McGill J, Bhattacharya S (Oct 1997). "Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly". American Journal of Human Genetics 61 (4): 882–8. doi:10.1086/514874. PMC 1715988. PMID 9382099.
- Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC (Jun 1998). "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25". Nature Genetics 19 (2): 140–7. doi:10.1038/493. PMID 9620769.
- Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA (Nov 1998). "Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly". American Journal of Human Genetics 63 (5): 1316–28. doi:10.1086/302109. PMC 1377542. PMID 9792859.
- Swiderski RE, Reiter RS, Nishimura DY, Alward WL, Kalenak JW, Searby CS, Stone EM, Sheffield VC, Lin JJ (Sep 1999). "Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects". Developmental Dynamics 216 (1): 16–27. doi:10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1. PMID 10474162.
- Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA (Jan 2000). "Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25". European Journal of Human Genetics 8 (1): 71–4. doi:10.1038/sj.ejhg.5200354. PMID 10713890.
- Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, Khaw PT, Bhattacharya SS (Nov 2000). "Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma". American Journal of Human Genetics 67 (5): 1129–35. doi:10.1016/S0002-9297(07)62943-7. PMC 1288555. PMID 11007653.
- Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC (Feb 2001). "A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye". American Journal of Human Genetics 68 (2): 364–72. doi:10.1086/318183. PMC 1235270. PMID 11170889.
- Wang WH, McNatt LG, Shepard AR, Jacobson N, Nishimura DY, Stone EM, Sheffield VC, Clark AF (Apr 2001). "Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR". Molecular Vision 7: 89–94. PMID 11320352.
- Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y, Alward WL, Stone EM, Nishimura DY, Sheffield VC (Dec 2001). "Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients". Journal of Glaucoma 10 (6): 477–82. doi:10.1097/00061198-200112000-00007. PMID 11740218.
- Dintilhac A, Bernués J (Mar 2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". The Journal of Biological Chemistry 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221.
- Berry FB, Saleem RA, Walter MA (Mar 2002). "FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain". The Journal of Biological Chemistry 277 (12): 10292–7. doi:10.1074/jbc.M110266200. PMID 11782474.
- Borges AS, Susanna R, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY (Feb 2002). "Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil". Journal of Glaucoma 11 (1): 51–6. doi:10.1097/00061198-200202000-00010. PMID 11821690.
- Freyaldenhoven BS, Fried C, Wielckens K (Jul 2002). "FOXD4a and FOXD4b, two new winged helix transcription factors, are expressed in human leukemia cell lines". Gene 294 (1-2): 131–140. doi:10.1016/S0378-1119(02)00702-3. PMID 12234674.
External links
- FOXC1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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