Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Forkhead box protein P3

The FOXP3 gene encodes a transcription factor that is expressed during maturation of some regulator T lymphocytes. Mutations cause x-linked recessive immunodeficiency, polyendocrinopathy, and enteropathy.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autoimmune diabetes
FOXP3
HLA-DQA1
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3

References:

1.

Lyon MF et. al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

[^]
2.

Powell BR et. al. (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

[^]
3.

Clark LB et. al. (1999) Cellular and molecular characterization of the scurfy mouse mutant.

[^]
4.

Ferguson PJ et. al. (2000) Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

[^]
5.

Chatila TA et. al. (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.

[^]
6.

Wildin RS et. al. (2001) X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

[^]
7.

Bennett CL et. al. (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

[^]
8.

Brunkow ME et. al. (2001) Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.

[^]
9.

Levy-Lahad E et. al. (2001) Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

[^]
10.

Khattri R et. al. (2001) The amount of scurfin protein determines peripheral T cell number and responsiveness.

[^]
11.

Hori S et. al. (2003) Control of regulatory T cell development by the transcription factor Foxp3.

[^]
12.

Fontenot JD et. al. (2003) Foxp3 programs the development and function of CD4+CD25+ regulatory T cells.

[^]
13.

Khattri R et. al. (2003) An essential role for Scurfin in CD4+CD25+ T regulatory cells.

[^]
14.

Bassuny WM et. al. (2003) A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes.

[^]
15.

Owen CJ et. al. (2003) Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

[^]
16.

Miura Y et. al. (2004) Association of Foxp3 regulatory gene expression with graft-versus-host disease.

[^]
17.

Stock P et. al. (2004) Induction of T helper type 1-like regulatory cells that express Foxp3 and protect against airway hyper-reactivity.

[^]
18.

Bettelli E et. al. (2005) Foxp3 interacts with nuclear factor of activated T cells and NF-kappa B to repress cytokine gene expression and effector functions of T helper cells.

[^]
19.

Wan YY et. al. (2005) Identifying Foxp3-expressing suppressor T cells with a bicistronic reporter.

[^]
20.

Hong J et. al. (2005) Induction of CD4+CD25+ regulatory T cells by copolymer-I through activation of transcription factor Foxp3.

[^]
21.

Allan SE et. al. (2005) The role of 2 FOXP3 isoforms in the generation of human CD4+ Tregs.

[^]
22.

Bacchetta R et. al. (2006) Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

[^]
23.

Smith EL et. al. (2006) Splice variants of human FOXP3 are functional inhibitors of human CD4+ T-cell activation.

[^]
24.

Pennington DJ et. al. (2006) Early events in the thymus affect the balance of effector and regulatory T cells.

[^]
25.

Lahl K et. al. (2007) Selective depletion of Foxp3+ regulatory T cells induces a scurfy-like disease.

[^]
26.

Gavin MA et. al. (2007) Foxp3-dependent programme of regulatory T-cell differentiation.

[^]
27.

Wan YY et. al. (2007) Regulatory T-cell functions are subverted and converted owing to attenuated Foxp3 expression.

[^]
28.

Zheng Y et. al. (2007) Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells.

[^]
29.

Marson A et. al. (2007) Foxp3 occupancy and regulation of key target genes during T-cell stimulation.

[^]
30.

Ono M et. al. (2007) Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1.

[^]
31.

Zuo T et. al. (2007) FOXP3 is an X-linked breast cancer suppressor gene and an important repressor of the HER-2/ErbB2 oncogene.

[^]
32.

Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.

[^]
33.

Zuo T et. al. (2007) FOXP3 is a novel transcriptional repressor for the breast cancer oncogene SKP2.

[^]
34.

Ricciardelli I et. al. (2008) Anti tumour necrosis-alpha therapy increases the number of FOXP3 regulatory T cells in children affected by Crohn's disease.

[^]
35.

Lund JM et. al. (2008) Coordination of early protective immunity to viral infection by regulatory T cells.

[^]
36.

Zheng Y et. al. (2009) Regulatory T-cell suppressor program co-opts transcription factor IRF4 to control T(H)2 responses.

[^]
37.

Tsuji M et. al. (2009) Preferential generation of follicular B helper T cells from Foxp3+ T cells in gut Peyer's patches.

[^]
38.

Feuerer M et. al. (2009) Lean, but not obese, fat is enriched for a unique population of regulatory T cells that affect metabolic parameters.

[^]
39.

Pan F et. al. (2009) Eos mediates Foxp3-dependent gene silencing in CD4+ regulatory T cells.

[^]
40.

Casetti R et. al. (2009) Cutting edge: TGF-beta1 and IL-15 Induce FOXP3+ gammadelta regulatory T cells in the presence of antigen stimulation.

[^]
41.

Lanteri MC et. al. (2009) Tregs control the development of symptomatic West Nile virus infection in humans and mice.

[^]
42.

Zheng Y et. al. (2010) Role of conserved non-coding DNA elements in the Foxp3 gene in regulatory T-cell fate.

[^]
43.

Toulza F et. al. (2010) Human T-lymphotropic virus type 1-induced CC chemokine ligand 22 maintains a high frequency of functional FoxP3+ regulatory T cells.

[^]
44.

Liu B et. al. (2010) The ligase PIAS1 restricts natural regulatory T cell differentiation by epigenetic repression.

[^]
45.

Mold JE et. al. (2010) Fetal and adult hematopoietic stem cells give rise to distinct T cell lineages in humans.

[^]
46.

Rowe JH et. al. (2011) Foxp3(+) regulatory T cell expansion required for sustaining pregnancy compromises host defense against prenatal bacterial pathogens.

[^]
47.

Dang EV et. al. (2011) Control of T(H)17/T(reg) balance by hypoxia-inducible factor 1.

[^]
48.

Rowe JH et. al. (2012) Pregnancy imprints regulatory memory that sustains anergy to fetal antigen.

[^]
49.

Huang C et. al. (2013) Cutting Edge: a novel, human-specific interacting protein couples FOXP3 to a chromatin-remodeling complex that contains KAP1/TRIM28.

[^]
50.

Sharma MD et. al. (2013) An inherently bifunctional subset of Foxp3+ T helper cells is controlled by the transcription factor eos.

[^]
51.

Smigiel KS et. al. (2014) CCR7 provides localized access to IL-2 and defines homeostatically distinct regulatory T cell subsets.

[^]
Update: Sept. 26, 2018