RGD Reference Report - Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. - Rat Genome Database

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Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

Authors: Dupuis, S  Dargemont, C  Fieschi, C  Thomassin, N  Rosenzweig, S  Harris, J  Holland, SM  Schreiber, RD  Casanova, JL 
Citation: Dupuis S, etal., Science. 2001 Jul 13;293(5528):300-3.
RGD ID: 1600087
Pubmed: PMID:11452125   (View Abstract at PubMed)
DOI: DOI:10.1126/science.1061154   (Journal Full-text)

Interferons (IFN) alpha/beta and gamma induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). We report a natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease. This mutation causes a loss of GAF and ISGF3 activation but is dominant for one cellular phenotype and recessive for the other. It impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs. Thus, the antimycobacterial, but not the antiviral, effects of human IFNs are principally mediated by GAF.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Nontuberculous Mycobacterium Infections susceptibilityIAGP 1600087DNA:transition: and 2116T>CRGD 
Nontuberculous Mycobacterium Infections susceptibilityISOSTAT1 (Homo sapiens)1600087; 1600087DNA:transition: and 2116T>CRGD 

Objects Annotated

Genes (Rattus norvegicus)
Stat1  (signal transducer and activator of transcription 1)

Genes (Mus musculus)
Stat1  (signal transducer and activator of transcription 1)

Genes (Homo sapiens)
STAT1  (signal transducer and activator of transcription 1)


Additional Information