Universität zu Köln

Seifert, Wenke, Posor, York, Schu, Peter, Stenbeck, Gudrun, Mundlos, Stefan, Klaassen, Sabine, Nuernberg, Peter, Haucke, Volker, Kornak, Uwe and Kuehnisch, Jirko (2016). The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Hum. Mol. Genet., 25 (17). S. 3836 - 3849. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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Abstract

Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, deafness and ankylosis syndrome (MRDA). The function of the encoded membrane protein ANK in cellular compartments other than the plasma membrane is unknown. Here, we show that ANK localizes to the trans-Golgi network (TGN), clathrin-coated vesicles and the plasma membrane. ANK functionally interacts with clathrin and clathrin associated adaptor protein (AP) complexes as loss of either protein causes ANK dispersion from the TGN to cytoplasmic endosome-like puncta. Consistent with its subcellular localization, loss of ANK results in reduced formation of tubular membrane carriers from the TGN, perinuclear accumulation of early endosomes and impaired transferrin endocytosis. Our data indicate that clathrin/AP-mediated cycling of ANK between the TGN, endosomes, and the cell surface regulates membrane traffic at the TGN/endosomal interface. These findings suggest that dysfunction of Golgi-endosomal membrane traffic may contribute to ANKH-associated pathologies.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Seifert, Wenke UNSPECIFIED UNSPECIFIED UNSPECIFIED Posor, York UNSPECIFIED UNSPECIFIED UNSPECIFIED Schu, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Stenbeck, Gudrun UNSPECIFIED UNSPECIFIED UNSPECIFIED Mundlos, Stefan UNSPECIFIED UNSPECIFIED UNSPECIFIED Klaassen, Sabine UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Haucke, Volker UNSPECIFIED UNSPECIFIED UNSPECIFIED Kornak, Uwe UNSPECIFIED UNSPECIFIED UNSPECIFIED Kuehnisch, Jirko UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-263051
DOI:	10.1093/hmg/ddw230
Journal or Publication Title:	Hum. Mol. Genet.
Volume:	25
Number:	17
Page Range:	S. 3836 - 3849
Date:	2016
Publisher:	OXFORD UNIV PRESS
Place of Publication:	OXFORD
ISSN:	1460-2083
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language INORGANIC PYROPHOSPHATE; CRANIOMETAPHYSEAL DYSPLASIA; RECYCLING ENDOSOMES; PLASMA-MEMBRANE; CELL-SURFACE; BREFELDIN-A; MUTATIONS; TRANSFERRIN; DISEASE; BINDING Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/26305