FOXN1

From Wikipedia, the free encyclopedia

Forkhead box N1

Identifiers

FOXN1; FKHL20; RONU; WHN

External IDs

OMIM: 600838 MGI: 102949 HomoloGene: 2664

Gene ontology
Molecular Function:	• transcription factor activity • specific RNA polymerase II transcription factor activity • sequence-specific DNA binding
Cellular Component:	• nucleus
Biological Process:	• transcription • regulation of transcription from RNA polymerase II promoter • defense response • multicellular organismal development • epidermis development • organ morphogenesis • keratinocyte differentiation • epithelial cell proliferation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003593 (mRNA)
NP_003584 (protein)

NM_008238 (mRNA)
NP_032264 (protein)

Location

Chr 17: 23.88 - 23.89 Mb

Chr 11: 78.17 - 78.2 Mb

Pubmed search

[1]

[2]

Forkhead box N1, also known as FOXN1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: FOXN1 forkhead box N1.

[edit] Further reading

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.
Schorpp M, Hofmann M, Dear TN, Boehm T (1997). "Characterization of mouse and human nude genes.". Immunogenetics 46 (6): 509–15. PMID 9321431.
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. 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.