Forkhead box protein N1 is a protein that in humans is encoded by the FOXN1 gene.[1][2]
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]
References
- ^ Schorpp M, Hofmann M, Dear TN, Boehm T (Dec 1997). "Characterization of mouse and human nude genes". Immunogenetics 46 (6): 509–15. doi:10.1007/s002510050312. PMID 9321431.
- ^ a b "Entrez Gene: FOXN1 forkhead box N1".
- ^ Darnell DK, Zhang LS, Hannenhalli S, Yaklichkin S. (Dec 2014). "Developmental expression of chicken FOXN1 and putative target genes during feather development.". Int J Dev Biol. 58 (1): 57–64. doi:10.1387/ijdb.130023sy. PMID 24860996.
Further reading
- Zhang, Z., Burnley, P., Coder, B., & Su, D. M. (2012). "Insights on FoxN1 biological significance and usages of the "nude" mouse in studies of T-lymphopoiesis". International journal of biological sciences 8 (8): 1156–1167. doi:10.7150/ijbs.5033. PMC 3477685. PMID 23091413.
- Mecklenburg L, Tychsen B, Paus R (2006). "Learning from nudity: lessons from the nude phenotype". Exp. Dermatol. 14 (11): 797–810. doi:10.1111/j.1600-0625.2005.00362.x. PMID 16232301.
- Nehls M, Pfeifer D, Schorpp M et al. (1994). "New member of the winged-helix protein family disrupted in mouse and rat nude mutations". Nature 372 (6501): 103–7. doi:10.1038/372103a0. PMID 7969402.
- Frank J, Pignata C, Panteleyev AA et al. (1999). "Exposing the human nude phenotype". Nature 398 (6727): 473–4. doi:10.1038/18997. PMID 10206641.
- Gattenlöhner S, Müller-Hermelink HK, Marx A (1999). "Transcription of the nude gene (WHN) in human normal organs and mediastinal and pulmonary tumors". Pathol. Res. Pract. 195 (8): 571–4. doi:10.1016/s0344-0338(99)80007-7. PMID 10483588.
- Schlake T, Schorpp M, Maul-Pavicic A et al. (2000). "Forkhead/winged-helix transcription factor Whn regulates hair keratin gene expression: molecular analysis of the nude skin phenotype". Dev. Dyn. 217 (4): 368–76. doi:10.1002/(SICI)1097-0177(200004)217:4<368::AID-DVDY4>3.0.CO;2-Z. PMID 10767081.
- Adriani M, Martinez-Mir A, Fusco F et al. (2004). "Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population". Ann. Hum. Genet. 68 (Pt 3): 265–8. doi:10.1046/j.1529-8817.2004.00091.x. PMID 15180707.
- Janes SM, Ofstad TA, Campbell DH et al. (2005). "Transient activation of FOXN1 in keratinocytes induces a transcriptional programme that promotes terminal differentiation: contrasting roles of FOXN1 and Akt". J. Cell. Sci. 117 (Pt 18): 4157–68. doi:10.1242/jcs.01302. PMID 15316080.
- Nonaka D, Henley JD, Chiriboga L, Yee H (2007). "Diagnostic utility of thymic epithelial markers CD205 (DEC205) and Foxn1 in thymic epithelial neoplasms". Am. J. Surg. Pathol. 31 (7): 1038–44. doi:10.1097/PAS.0b013e31802b4917. PMID 17592270.
- Weiner L, Han R, Scicchitano BM et al. (2007). "Dedicated epithelial recipient cells determine pigmentation patterns". Cell 130 (5): 932–42. doi:10.1016/j.cell.2007.07.024. PMID 17803914.
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