Biology:FOXN1
 Generic protein structure example |
Forkhead box protein N1 is a protein that in humans is encoded by the FOXN1 gene.[1][2]
Function
Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed.[2] In the chick embryo, the FOXN1 gene is expressed in the developing thymus, claws and feathers. The expression of FOXN1 in feathers and claws indicates that it may regulate the feather outgrowth. In feather and claws, FOXN1 can potentially regulate expression of keratins similar to mammalian orthologs. [3] In thymic epithelial cells, FOXN1 has been shown to bind to and regulate genes involved in T-cell maturation and antigen presentation.[4]
References
- ↑ "Characterization of mouse and human nude genes". Immunogenetics 46 (6): 509–15. Dec 1997. doi:10.1007/s002510050312. PMID 9321431.
- ↑ 2.0 2.1 "Entrez Gene: FOXN1 forkhead box N1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8456.
- ↑ "Developmental expression of chicken FOXN1 and putative target genes during feather development". The International Journal of Developmental Biology 58 (1): 57–64. Dec 2014. doi:10.1387/ijdb.130023sy. PMID 24860996.
- ↑ "Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells". Nature Immunology 17 (10): 1206–15. Aug 2016. doi:10.1038/ni.3537. PMID 27548434.
Further reading
- "Insights on FoxN1 biological significance and usages of the "nude" mouse in studies of T-lymphopoiesis". International Journal of Biological Sciences 8 (8): 1156–67. 2012. doi:10.7150/ijbs.5033. PMID 23091413.
- "Learning from nudity: lessons from the nude phenotype". Experimental Dermatology 14 (11): 797–810. Nov 2005. doi:10.1111/j.1600-0625.2005.00362.x. PMID 16232301.
- "New member of the winged-helix protein family disrupted in mouse and rat nude mutations". Nature 372 (6501): 103–7. Nov 1994. doi:10.1038/372103a0. PMID 7969402. Bibcode: 1994Natur.372..103N.
- "Exposing the human nude phenotype". Nature 398 (6727): 473–4. Apr 1999. doi:10.1038/18997. PMID 10206641. Bibcode: 1999Natur.398..473F.
- "Transcription of the nude gene (WHN) in human normal organs and mediastinal and pulmonary tumors". Pathology, Research and Practice 195 (8): 571–4. 1999. doi:10.1016/s0344-0338(99)80007-7. PMID 10483588.
- "Forkhead/winged-helix transcription factor Whn regulates hair keratin gene expression: molecular analysis of the nude skin phenotype". Developmental Dynamics 217 (4): 368–76. Apr 2000. doi:10.1002/(SICI)1097-0177(200004)217:4<368::AID-DVDY4>3.0.CO;2-Z. PMID 10767081.
- "Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population". Annals of Human Genetics 68 (Pt 3): 265–8. May 2004. doi:10.1046/j.1529-8817.2004.00091.x. PMID 15180707.
- "Transient activation of FOXN1 in keratinocytes induces a transcriptional programme that promotes terminal differentiation: contrasting roles of FOXN1 and Akt". Journal of Cell Science 117 (Pt 18): 4157–68. Aug 2004. doi:10.1242/jcs.01302. PMID 15316080. http://discovery.ucl.ac.uk/6900/1/6900.pdf.
- "Diagnostic utility of thymic epithelial markers CD205 (DEC205) and Foxn1 in thymic epithelial neoplasms". The American Journal of Surgical Pathology 31 (7): 1038–44. Jul 2007. doi:10.1097/PAS.0b013e31802b4917. PMID 17592270.
- "Dedicated epithelial recipient cells determine pigmentation patterns". Cell 130 (5): 932–42. Sep 2007. doi:10.1016/j.cell.2007.07.024. PMID 17803914.
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