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STATmutation
Genome Biology volume 2, Article number: spotlight-20010712-03 (2001)
Susceptibility to mycobacterial disease leads to severe clinical infections and has been associated with mutations in proteins involved in interferon-gamma signalling. In the July 13 Science, Dupuis et al., from the Hôpital Necker-Enfants Malades in Paris, report the identification of a mutation in the human STAT1 gene that affects susceptibility to mycobacterial but not viral disease (Science 2001, 293:300-303). The heterozygous germline mutation, causing a leucine to serine substitution (L706S), affects STAT1 phosphorylation and nuclear accumulation upon stimulation by interferons. Transfection studies showed that the L706S allele exerts a dominant-negative affect on the wild-type STAT1 allele in inducing gamma-activating factor (GAF) transcriptional activity. The clinical phenotype of the STAT1-mutant patients suggests that anti-mycobacterial immunity involves specific STAT1-dependent interferon-gamma signalling pathways.
References
Familial atypical mycibacteriosis, [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=209950]
Science , [http://www.sciencemag.org]
Hôpital Necker-Enfants Malade, [http://www.ap-hop-paris.fr/structure/infoshopital.asp?hopital=061&champs=presentation]
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Weitzman, J.B. STATmutation. Genome Biol 2, spotlight-20010712-03 (2001). https://doi.org/10.1186/gb-spotlight-20010712-03
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DOI: https://doi.org/10.1186/gb-spotlight-20010712-03