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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice.

We have identified waved 3 (wa3), a novel recessive mutation that causes abnormalities of the heart and skin. The cardiac defect results in a severe and rapidly progressive dilated cardiomyopathy. We identified the gene mutated in these mice, which we call NFkB interacting protein1 (Nkip1), using positional cloning. Nkip1 is expressed in skin, heart and vascular endothelium and shares homology with a small family of proteins that play a role in the regulation of transcription factors. A C-terminal fragment of this protein was previously identified as the RelA associated inhibitor (RAI). We show that the full-length protein is larger than previously described, and we confirm that it interacts with NFkB in vivo. Expression analysis of genes known to be regulated by NFkB revealed that Intercellular adhesion molecule 1 (Icam1) expression is consistently elevated in mutant mice. This result suggests that wa3 mutant mice represent a potentially important model for the analysis of the role of inflammatory processes in heart disease.[1]

References

  1. A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice. Herron, B.J., Rao, C., Liu, S., Laprade, L., Richardson, J.A., Olivieri, E., Semsarian, C., Millar, S.E., Stubbs, L., Beier, D.R. Hum. Mol. Genet. (2005) [Pubmed]
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