Human STAT1 deficiencies

Human STAT1 deficiencies

Description and characterisation of the different Human STAT1 deficiencies

LAP Lambert Academic Publishing ( 2011-02-15 )

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The Signal Transducer and Activator of Transcription 1 (STAT1) is activated in response to interferons (IFNs) stimulations. In response to IFN-γ, STAT1 homodimerizes to form the gamma activating factor (GAF). In response to IFN-α, STAT1 heterotrimerizes with STAT2 and ISGF3-γ to form the interferon sequence gene factor 3 (ISGF3). This work clearly demonstrates the distinct roles of the IFN-γ-induced-GAF complexes in anti-mycobacterial immunity and of IFN-α induced- ISGF3 complexes in the anti-viral immunity in humans at the cellular and clinical levels by different molecular mechanisms. It also highlights the fact that a phenotype depends of the mutation and not only of the affected gene; and moreover the importance of the homozygosis or heterozygosis state of the mutation in human genetic diseases.

Book Details:

ISBN-13:

978-3-8443-0168-7

ISBN-10:

3844301682

EAN:

9783844301687

Book language:

English

By (author) :

Ariane Chapgier

Number of pages:

136

Published on:

2011-02-15

Category:

Genetics