FOXE3
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Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.[2]
Function
FOXE3 is a forkhead-box transcription factor which is involved in the proper formation of the ocular lens and is post-natally expressed in the lens epithelium.
Clinical significance
Mutations in the FOXE3 gene are associated with anterior segment mesenchymal dysgenesis.[3]
Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia,[4][5] sclerocornea, microphthalmia, and optic disc coloboma.[6] There have also been reports of heterozygous mutations causing less severe ocular diseases such as anterior segment dysgenesis (sometimes referred to as anterior segment mesenchymal dysgenesis),[3] and Peter's anomaly.[7]
See also
References
- ↑ "Human PubMed Reference:".
- ↑ "Entrez Gene: forkhead box E3".
- 1 2 Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M (February 2001). "Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts". Hum. Mol. Genet. 10 (3): 231–6. doi:10.1093/hmg/10.3.231. PMID 11159941.
- ↑ Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L (2010). "A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family". Mol. Vis. 16: 549–55. PMC 2846847
. PMID 20361012. - ↑ Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B (August 2006). "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans". Am. J. Hum. Genet. 79 (2): 358–64. doi:10.1086/505654. PMC 1559477. PMID 16826526.
- ↑ Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC (2010). "Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma". Mol. Vis. 16: 1162–8. PMC 2901196. PMID 20664696.
- ↑ Doucette, Lance; Jane Green; Bridget Fernandez; Gordon J Johnson; Patrick Parfrey; Terry-Lynn Young (2011). "A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly". European Journal of Human Genetics. 19 (3): 293–299. doi:10.1038/ejhg.2010.210. PMC 3062009. PMID 21150893.
Further reading
- Iseri SU, Osborne RJ, Farrall M, et al. (2009). "Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.". Hum. Mutat. 30 (10): 1378–86. doi:10.1002/humu.21079. PMID 19708017.
- Brémond-Gignac D, Bitoun P, Reis LM, et al. (2010). "Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.". Mol. Vis. 16: 1705–11. PMC 2927439. PMID 20806047.
- Perosa F, Vicenti C, Racanelli V, et al. (2010). "The immunodominant epitope of centromere-associated protein A displays homology with the transcription factor forkhead box E3 (FOXE3).". Clin. Immunol. 137 (1): 60–73. doi:10.1016/j.clim.2010.06.008. PMID 20630806.
- Valleix S, Niel F, Nedelec B, et al. (2006). "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.". Am. J. Hum. Genet. 79 (2): 358–64. doi:10.1086/505654. PMC 1559477. PMID 16826526.
- Blixt A, Mahlapuu M, Aitola M, et al. (2000). "A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle.". Genes Dev. 14 (2): 245–54. PMC 316354. PMID 10652278.
- Reis LM, Tyler RC, Schneider A, et al. (2010). "FOXE3 plays a significant role in autosomal recessive microphthalmia.". Am. J. Med. Genet. A. 152A (3): 582–90. doi:10.1002/ajmg.a.33257. PMC 2998041. PMID 20140963.
- Larsson C, Hellqvist M, Pierrou S, et al. (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.
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