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Proc Natl Acad Sci U S A. 2009 Dec 29;106(52):22305-10. doi: 10.1073/pnas.0901932106. Epub 2009 Dec 4.

Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI.

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1
Department of Cell and Developmental Biology, Penn Cardiovascular Institute, and the Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Abstract

Von Recklinghausen neurofibromatosis is a common autosomal dominant genetic disorder characterized by benign and malignant tumors of neural crest origin. Significant progress in understanding the pathophysiology of this disease has occurred in recent years, largely aided by the development of relevant animal models. Von Recklinghausen neurofibromatosis is caused by mutations in the NF1 gene, which encodes neurofibromin, a large protein that modulates the activity of Ras. Here, we describe the identification and characterization of zebrafish nf1a and nf1b, orthologues of NF1, and show neural crest and cardiovascular defects resulting from morpholino knockdown, including vascular and cardiac valvular abnormalities. Development of a zebrafish model of von Recklinghausen neurofibromatosis will allow for structure-function analysis and genetic screens in this tractable vertebrate system.

PMID:
19966217
PMCID:
PMC2799742
DOI:
10.1073/pnas.0901932106
[Indexed for MEDLINE]
Free PMC Article
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