Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

STAT1-Gen

Das STAT1-Gen kodiert einen Transkriptionsfaktor der durch verschiedene Interleukine aktiviert werden kann, dazu gehören Interferon-alpha, Interferon-gamma, EGF, PDGF und Interleukin 6. Mutationen können zu autosomal dominanten und rezessiven Störungen der Immunantwort führen.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Immundefekt 31A
STAT1
Immundefekt 31B
STAT1
Immundefekt 31C
STAT1

Referenzen:

1.

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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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

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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12.

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

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13.

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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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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

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24.

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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25.

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

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26.

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

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27.

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

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28.

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

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29.

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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30.

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

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31.

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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32.

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

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33.

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

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34.

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

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35.

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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36.

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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37.

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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38.

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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39.

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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40.

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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41.

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

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42.

None (1995) Cytokine receptor signalling.

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43.

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

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44.

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

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45.

NCBI article

NCBI 6772 external link
46.

OMIM.ORG article

Omim 600555 external link
47.

Orphanet article

Orphanet ID 119879 external link
Update: 14. August 2020
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