Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Signal transducer and activator of transcription 1-alpha/beta

The STAT1 gene encodes a transcription factor that is activated by various cytokines including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. Mutations cause autosomal dominant and recessive forms of immunodeficiency.

Genetests:

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

Related Diseases:

Immunodeficiency 31A
STAT1
Immunodeficiency 31B
STAT1
Immunodeficiency 31C
STAT1

References:

1.

Spagnoli A et al. (2002) Identification of STAT-1 as a molecular target of IGFBP-3 in the process of chondrogenesis.

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2.

Braumüller H et al. (2013) T-helper-1-cell cytokines drive cancer into senescence.

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3.

Dupuis S et al. (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

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4.

Tsumura M et al. (2012) Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

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5.

Yamamoto K et al. (1997) cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3.

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6.

Dupuis S et al. (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

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7.

Chapgier A et al. (2006) Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.

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8.

Kong XF et al. (2010) A novel form of human STAT1 deficiency impairing early but not late responses to interferons.

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9.

van de Veerdonk FL et al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

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10.

Liu L et al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

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11.

Smeekens SP et al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

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12.

Uzel G et al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

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13.

Sampaio EP et al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

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14.

Soltész B et al. (2013) New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

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15.

Yamazaki Y et al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

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16.

Kosaka H et al. (2008) Interferon-gamma is a therapeutic target molecule for prevention of postoperative adhesion formation.

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17.

Schindler C et al. (1992) Proteins of transcription factor ISGF-3: one gene encodes the 91-and 84-kDa ISGF-3 proteins that are activated by interferon alpha.

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18.

Fu XY et al. (1990) ISGF3, the transcriptional activator induced by interferon alpha, consists of multiple interacting polypeptide chains.

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19.

None (1995) Cytokine receptor signalling.

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20.

Ihle JN et al. (1995) Jaks and Stats in signaling by the cytokine receptor superfamily.

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21.

Darnell JE et al. (1994) Jak-STAT pathways and transcriptional activation in response to IFNs and other extracellular signaling proteins.

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22.

Copeland NG et al. (1995) Distribution of the mammalian Stat gene family in mouse chromosomes.

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23.

None (1996) STATs: signal transducers and activators of transcription.

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24.

Meraz MA et al. (1996) Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway.

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25.

Durbin JE et al. (1996) Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease.

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26.

Chen X et al. (1998) Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA.

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27.

Kaplan DH et al. (1998) Demonstration of an interferon gamma-dependent tumor surveillance system in immunocompetent mice.

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28.

Haddad B et al. (1998) Assignment1 of STAT1 to human chromosome 2q32 by FISH and radiation hybrids.

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29.

Ramana CV et al. (2000) Complex roles of Stat1 in regulating gene expression.

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30.

Mowen KA et al. (2001) Arginine methylation of STAT1 modulates IFNalpha/beta-induced transcription.

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31.

Shankaran V et al. (2001) IFNgamma and lymphocytes prevent primary tumour development and shape tumour immunogenicity.

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32.

Wang J et al. (2002) STAT1 deficiency unexpectedly and markedly exacerbates the pathophysiological actions of IFN-alpha in the central nervous system.

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33.

Hikasa M et al. (2003) p21waf1/cip1 is down-regulated in conjunction with up-regulation of c-Fos in the lymphocytes of rheumatoid arthritis patients.

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34.

Takeda A et al. (2003) Cutting edge: role of IL-27/WSX-1 signaling for induction of T-bet through activation of STAT1 during initial Th1 commitment.

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35.

Takeuchi K et al. (2003) Measles virus V protein blocks interferon (IFN)-alpha/beta but not IFN-gamma signaling by inhibiting STAT1 and STAT2 phosphorylation.

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36.

Kim S et al. (2003) Stat1 functions as a cytoplasmic attenuator of Runx2 in the transcriptional program of osteoblast differentiation.

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37.

Rodriguez JJ et al. (2003) Hendra virus V protein inhibits interferon signaling by preventing STAT1 and STAT2 nuclear accumulation.

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38.

Wesemann DR et al. (2004) TRADD interacts with STAT1-alpha and influences interferon-gamma signaling.

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39.

Xiao L et al. (2004) Stat1 controls postnatal bone formation by regulating fibroblast growth factor signaling in osteoblasts.

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40.

Rosenzweig SD et al. (2005) Defects in the interferon-gamma and interleukin-12 pathways.

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41.

Hartman SE et al. (2005) Global changes in STAT target selection and transcription regulation upon interferon treatments.

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42.

Chapgier A et al. (2006) Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

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43.

Xu W et al. (2014) Ebola virus VP24 targets a unique NLS binding site on karyopherin alpha 5 to selectively compete with nuclear import of phosphorylated STAT1.

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44.

Leopold Wager CM et al. (2014) STAT1 signaling is essential for protection against Cryptococcus neoformans infection in mice.

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45.

NCBI article

NCBI 6772 [^]
46.

OMIM.ORG article

Omim 600555 [^]
47.

Orphanet article

Orphanet ID 119879 [^]
48.

Wikipedia article

Wikipedia EN (STAT1) [^]
Update: April 29, 2019