Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development

Kartopawiro, Joëlle, Neil Bower, Neil I., Karnezis, Tara, Kazenwadel, Jan, Betterman, Kelly L., Lesieur, Emmanuelle, Koltowska, Katarzyna, Astin, Jonathan, Crosier, Philip, Vermeren, Sonja, Achen, Marc G., Stacker, Steven A., Smith, Kelly A., Harvey, Natasha L., François, Mathias and Hogan, Benjamin M. (2013) Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development. Human Molecular Genetics, Advance Access 1-12. doi:10.1093/hmg/ddt518

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Author Kartopawiro, Joëlle
Neil Bower, Neil I.
Karnezis, Tara
Kazenwadel, Jan
Betterman, Kelly L.
Lesieur, Emmanuelle
Koltowska, Katarzyna
Astin, Jonathan
Crosier, Philip
Vermeren, Sonja
Achen, Marc G.
Stacker, Steven A.
Smith, Kelly A.
Harvey, Natasha L.
François, Mathias
Hogan, Benjamin M.
Title Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development
Formatted title
Arap3 is dysregulated in a mouse model of hypotrichosis–lymphedema–telangiectasia and regulates lymphatic vascular development
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 0964-6906
1460-2083
Publication date 2013-10-24
Sub-type Article (original research)
DOI 10.1093/hmg/ddt518
Volume Advance Access
Start page 1
End page 12
Total pages 12
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Collection year 2014
Language eng
Formatted abstract
Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis–lymphedema–telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the embryo. To identify novel modulators of lymphangiogenesis, we used a mouse model of HLT (Ragged Opossum) and performed gene expression profiling of aberrant dermal lymphatic vessels. Expression studies and functional analysis in zebrafish and mice revealed one candidate, ArfGAP with RhoGAP domain, Ankyrin repeat and PH domain 3 (ARAP3), which is down-regulated in HLT mouse lymphatic vessels and necessary for lymphatic vascular development in mice and zebrafish. We position this known regulator of cell behaviour during migration as a mediator of the cellular response to Vegfc signalling in lymphatic endothelial cells in vitro and in vivo. Our data refine common mechanisms that are likely to contribute during both development and the pathogenesis of lymphatic vascular disorders.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes First published online: October 24, 2013

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
Institute for Molecular Bioscience - Publications
 
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Created: Tue, 10 Dec 2013, 15:49:22 EST by Susan Allen on behalf of Institute for Molecular Bioscience