NEMO, NFkappaB signaling and incontinentia pigmenti.
The identification of mutations in the NEMO gene in humans with incontinentia pigmenti and several other genetic conditions has led to an appreciation of the multiple roles of signaling through the NFkappaB pathway, and how erroneous signalling contributes to disease. The finding that the disease results from a common, recurrent mutation was surprising given the high variability in patients' phenotypes and illustrates the role of X inactivation and selection in females. Recent advances in mouse models and in understanding the multiple roles of NEMO in the cell provide additional avenues to define the various roles of NEMO in NFkappaB signaling.
Nelson
David L
DL
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. nelson@bcm.edu
D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics / Q000378:metabolism*; D007184:Incontinentia Pigmenti / Q000235:genetics / Q000378:metabolism*; D016328:NF-kappa B / Q000378:metabolism*; D015398:Signal Transduction; D049951:X Chromosome Inactivation
D016328:NF-kappa B; D051550:I-kappa B Kinase