Biology:FOXE1
 Generic protein structure example |
Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[1][2][3]
Location
The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22[4]
Function
This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.
Clinical significance
Mutations in this gene cause Bamforth-Lazarus syndrome[5] and are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I.[3]
The region surrounding the FOXE1 gene has shown association in the pathogenesis of cleft lip and palate with genome-wide levels of significance in linkage analysis studies with additional fine-mapping and replication.[5]
Tissue localization
FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.[6]
Avian FOXE1 is also expressed in developing feathers.[7]
See also
References
- ↑ "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22". Genomics 41 (3): 390–6. Jul 1997. doi:10.1006/geno.1997.4692. PMID 9169137.
- ↑ "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia". Nat Genet 19 (4): 399–401. Sep 1998. doi:10.1038/1294. PMID 9697705.
- ↑ Jump up to: 3.0 3.1 "Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2304.
- ↑ FOXE1
- ↑ Jump up to: 5.0 5.1 "Cleft lip and palate: understanding genetic and environmental influences". Nat. Rev. Genet. 12 (3): 167–78. March 2011. doi:10.1038/nrg2933. PMID 21331089.
- ↑ "TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation". EMBO J. 16 (11): 3185–97. June 1997. doi:10.1093/emboj/16.11.3185. PMID 9214635.
- ↑ "Accelerated evolution of 3'avian FOXE1 genes, and thyroid and feather specific expression of chicken FoxE1.". BMC Evol. Biol. 11 (302): 3185–97. Oct 2011. doi:10.1186/1471-2148-11-302. PMID 21999483. Bibcode: 2011BMCEE..11..302Y.
Further reading
- "The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.". DNA Cell Biol. 16 (2): 165–71. 1997. doi:10.1089/dna.1997.16.165. PMID 9052737.
- "TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation.". EMBO J. 16 (11): 3185–97. 1997. doi:10.1093/emboj/16.11.3185. PMID 9214635.
- "Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2).". Biochimie 81 (5): 433–40. 1999. doi:10.1016/S0300-9084(99)80092-3. PMID 10403172.
- "Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta.". J. Biol. Chem. 275 (24): 18418–23. 2000. doi:10.1074/jbc.M910211199. PMID 10748198.
- "Thyroid transcription factor-2 gene expression in benign and malignant thyroid lesions.". Thyroid 11 (11): 995–1001. 2002. doi:10.1089/105072501753271662. PMID 11762722.
- "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.". Hum. Mol. Genet. 11 (17): 2051–9. 2003. doi:10.1093/hmg/11.17.2051. PMID 12165566.
- "Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis.". Thyroid 13 (10): 927–32. 2004. doi:10.1089/105072503322511328. PMID 14611701.
- "Nuclear localization domains in human thyroid transcription factor 2.". Biochim. Biophys. Acta 1643 (1–3): 55–64. 2004. doi:10.1016/j.bbamcr.2003.09.002. PMID 14654228.
- "FOXE1, a new transcriptional target of GLI2 is expressed in human epidermis and basal cell carcinoma.". J. Invest. Dermatol. 122 (5): 1180–7. 2004. doi:10.1111/j.0022-202X.2004.22505.x. PMID 15140221.
- "Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate.". Thyroid 14 (8): 584–8. 2005. doi:10.1089/1050725041692864. PMID 15320969.
- "Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis.". Hum. Mol. Genet. 13 (21): 2595–606. 2005. doi:10.1093/hmg/ddh292. PMID 15367491.
- "An investigation into FOXE1 polyalanine tract length in premature ovarian failure.". Mol. Hum. Reprod. 12 (3): 145–9. 2006. doi:10.1093/molehr/gal017. PMID 16481406.
- "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.". J. Clin. Endocrinol. Metab. 91 (10): 4183–7. 2006. doi:10.1210/jc.2006-0405. PMID 16882747.
External links
- FOXE1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- FOXE1 human gene location in the UCSC Genome Browser.
- FOXE1 human gene details in the UCSC Genome Browser.
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