NF-kappa B defects in humans: the NEMO/incontinentia pigmenti connection.
The components of the nuclear factor-kappaB (NF-kappaB) family of transcription factors are critical for regulating the response to immune challenges. Recently, a role for NF-kappaB in skin biology has been revealed. Within the cascade of proteins whose activities impinge upon the activation of NF-kappaB, the NEMO (NF-kappaB essential modulator)/IKKgamma protein is required for the activation of the IkappaB kinases, which in turn, promote the degradation of IkappaB proteins, leading to the derepression of NF-kappaB activity. Courtois and Israël discuss the role of NEMO/IKKgamma in normal physiological activation of NF-kappaB and the consequences of defective NF-kappaB activation, as an effect of NEMO/IKKgamma mutations, which can lead to incontinentia pigmenti, a disease marked by alopecia, tooth eruption, skin lesions, and changes in skin pigmentation.
Courtois
G
G
Unité de Biologie Moléculaire de l'Expression Génique, Institut Pasteur, Paris, France.
Israël
A
A
D000818:Animals; D006801:Humans; D051550:I-kappa B Kinase; D007184:Incontinentia Pigmenti / Q000201:enzymology* / Q000235:genetics; D016328:NF-kappa B / Q000172:deficiency* / Q000235:genetics / Q000502:physiology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000502:physiology*
D016328:NF-kappa B; D017346:Protein Serine-Threonine Kinases; C496559:CHUK protein, human; D051550:I-kappa B Kinase; C496560:IKBKB protein, human; C496565:IKBKE protein, human