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]
^Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC (June 1998). "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25". Nat. Genet.19 (2): 140–7. doi:10.1038/493. PMID9620769.
Further reading
Sperling R, Bustin M (1975). "Dynamic equilibrium in histone assembly: self-assembly of single histones and histone pairs". Biochemistry14 (15): 3322–31. doi:10.1021/bi00686a006. PMID1170889.
Hromas R, Moore J, Johnston T et al. (1993). "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells". Blood81 (11): 2854–9. PMID8499623.
Larsson C, Hellqvist M, Pierrou S et al. (1997). "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)". Genomics30 (3): 464–9. doi:10.1006/geno.1995.1266. PMID8825632.
Nishimura DY, Swiderski RE, Alward WL et al. (1998). "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25". Nat. Genet.19 (2): 140–7. doi:10.1038/493. PMID9620769.
Mirzayans F, Gould DB, Héon E et al. (2000). "Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25". Eur. J. Hum. Genet.8 (1): 71–4. doi:10.1038/sj.ejhg.5200354. PMID10713890.
Wang WH, McNatt LG, Shepard AR et al. (2001). "Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR". Mol. Vis.7: 89–94. PMID11320352.
Kawase C, Kawase K, Taniguchi T et al. (2002). "Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients". J. Glaucoma10 (6): 477–82. doi:10.1097/00061198-200112000-00007. PMID11740218.
Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem.277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID11748221.
Berry FB, Saleem RA, Walter MA (2002). "FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain". J. Biol. Chem.277 (12): 10292–7. doi:10.1074/jbc.M110266200. PMID11782474.
Borges AS, Susanna R, Carani JC et al. (2002). "Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil". J. Glaucoma11 (1): 51–6. doi:10.1097/00061198-200202000-00010. PMID11821690.
Freyaldenhoven BS, Fried C, Wielckens K (2003). "FOXD4a and FOXD4b, two new winged helix transcription factors, are expressed in human leukemia cell lines". Gene294 (1–2): 131–140. doi:10.1016/S0378-1119(02)00702-3. PMID12234674.