Skip Navigation



Human Molecular Genetics Advance Access published online on January 20, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi063
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
14/5/667    most recent
ddi063v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Herron, B. J.
Right arrow Articles by Beier, D. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Herron, B. J.
Right arrow Articles by Beier, D. R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics © Oxford University Press 2005; all rights reserved

Article

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

Bruce J. Herron 1, Cherie Rao 2, Shanming Liu 2, Lisa Laprade 2, James A. Richardson 3, Emily Olivieri 4, Chris Semsarian 5, Sarah E. Millar 6, Lisa Stubbs 7, and David R. Beier 8*

1 Genetics Division, Brigham and Women's Hospital and Harvard Medical School, 20 Shattuck St, Boston, MA 02115, USA; Genomics Institute, Wadsworth Center, Albany, NY
2 Genetics Division, Brigham and Women's Hospital and Harvard Medical School, 20 Shattuck St, Boston, MA 02115, USA
3 Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX
4 Genomics Institute, Wadsworth Center, Albany, NY
5 Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA
6 Departments of Dermatology and Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA
7 Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore CA
8 Genetics Division, Brigham and Women's Hospital and Harvard Medical School, 20 Shattuck St, Boston, MA 02115, USA; Genetics Division BWH, Harvard Medical School New Research Building, 77 Avenue Louis Pasteur, Boston, MA 02115

* To whom correspondence should be addressed.
David R. Beier, E-mail: beier{at}receptor.med.harvard.edu


  Abstract

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) (1). 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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.