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Genome Biology

, 2:spotlight-20010712-03 | Cite as

STATmutation

  • Jonathan B Weitzman
Research news
  • 345 Downloads

Keywords

Serine Interferon Leucine STAT1 Gene Viral Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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

Copyright information

© BioMed Central Ltd 2001

Authors and Affiliations

  • Jonathan B Weitzman

There are no affiliations available

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