Universität zu Köln

Richardson, Rebecca J., Gebauer, Jan M., Zhang, Jin-Li, Kobbe, Birgit, Keene, Douglas R., Karlsen, Kristina Rokenes, Richetti, Stefania, Wohl, Alexander P., Sengle, Gerhard, Neiss, Wolfram F., Paulsson, Mats, Hammerschmidt, Matthias and Wagener, Raimund (2014). AMACO Is a Component of the Basement Membrane-Associated Fraser Complex. J. Invest. Dermatol., 134 (5). S. 1313 - 1323. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747

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Abstract

Fraser syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cutaneous syndactyly, and other malformations resulting from mutations in FRAS1, FREM2, and GRIP1. Transient embryonic epidermal blistering causes the characteristic defects of the disorder. Fras1, Frem1, and Frem2 form the extracellular Fraser complex, which is believed to stabilize the basement membrane. However, several cases of FS could not be attributed to mutations in FRAS1, FREM2, or GRIP1, and FS displays high clinical variability, suggesting that there is an additional genetic, possibly modifying contribution to this disorder. An extracellular matrix protein containing VWA-like domains related to those in matrilins and collagens (AMACO), encoded by the VWA2 gene, has a very similar tissue distribution to the Fraser complex proteins in both mouse and zebrafish. Here, we show that AMACO deposition is lost in Fras1-deficient zebrafish and mice and that Fras1 and AMACO interact directly via their chondroitin sulfate proteoglycan (CSPG) and P2 domains. Knockdown of vwa2, which alone causes no phenotype, enhances the phenotype of hypomorphic Fras1 mutant zebrafish. Together, our data suggest that AMACO represents a member of the Fraser complex.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Richardson, Rebecca J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gebauer, Jan M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zhang, Jin-Li UNSPECIFIED UNSPECIFIED UNSPECIFIED Kobbe, Birgit UNSPECIFIED UNSPECIFIED UNSPECIFIED Keene, Douglas R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Karlsen, Kristina Rokenes UNSPECIFIED UNSPECIFIED UNSPECIFIED Richetti, Stefania UNSPECIFIED UNSPECIFIED UNSPECIFIED Wohl, Alexander P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sengle, Gerhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Neiss, Wolfram F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Paulsson, Mats UNSPECIFIED UNSPECIFIED UNSPECIFIED Hammerschmidt, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Wagener, Raimund UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-439549
DOI:	10.1038/jid.2013.492
Journal or Publication Title:	J. Invest. Dermatol.
Volume:	134
Number:	5
Page Range:	S. 1313 - 1323
Date:	2014
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	NEW YORK
ISSN:	1523-1747
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language EXTRACELLULAR-MATRIX PROTEIN; EMBRYONIC-DEVELOPMENT; BLEBBED PHENOTYPE; SUBLAMINA DENSA; LOCALIZATION; ZEBRAFISH; MUTATIONS; GRIP1; CRYPTOPHTHALMOS; IDENTIFICATION Multiple languages Dermatology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/43954