English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

Aranda-Orgillés, B., Trockenbacher, A., Winter, J., Aigner, J., Köhler, A., Jastrzebska, E., et al. (2008). The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex. Human Genetics, 123(2), 163-176. doi:10.1007/s00439-007-0456-6.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-80A0-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-80A1-0
Genre: Journal Article
Alternative Title : Hum Gen

Files

show Files
hide Files
:
fulltext.pdf (Any fulltext), 636KB
 
File Permalink:
-
Name:
fulltext.pdf
Description:
-
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: MPG
License:
-

Locators

show

Creators

show
hide
 Creators:
Aranda-Orgillés, Beatriz1, Author              
Trockenbacher, Alexander2, Author
Winter, Jennifer1, Author              
Aigner, Johanna1, Author              
Köhler, Andrea, Author
Jastrzebska, Ewa2, Author
Stahl, Joachim, Author
Müller, Eva-Christina, Author
Otto, Albrecht, Author
Wanker, Erich E., Author
Schneider, Rainer1, Author              
Schweiger, Susann1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              

Content

show
hide
Free keywords: -
 Abstract: Abstract Opitz BBB/G syndrome (OS) is a heterogenous malformation syndrome mainly characterised by hypertelorism and hypospadias. In addition, patients may present with several other defects of the ventral midline such as cleft lip and palate and congenital heart defects. The syndrome-causing gene encodes the X-linked E3 ubiquitin ligase MID1 that mediates ubiquitin-specific modification and degradation of the catalytic subunit of the translation regulator protein phosphatase 2A (PP2A). Here, we show that the MID1 protein also associates with elongation factor 1α (EF-1α) and several other proteins involved in mRNA transport and translation, including RACK1, Annexin A2, Nucleophosmin and proteins of the small ribosomal subunits. Mutant MID1 proteins as found in OS patients lose the ability to interact with EF-1α. The composition of the MID1 protein complex was determined by several independent methods: (1) yeast two-hybrid screening and (2) immunofluorescence, (3) a biochemical approach involving affinity purification of the complex, (4) co-fractionation in a microtubule assembly assay and (5) immunoprecipitation. Moreover, we show that the cytoskeleton-bound MID1/translation factor complex specifically associates with G- and U-rich RNAs and incorporates MID1 mRNA, thus forming a microtubule-associated ribonucleoprotein (RNP) complex. Our data suggest a novel function of the OS gene product in directing translational control to the cytoskeleton. The dysfunction of this mechanism would lead to malfunction of microtubule-associated protein translation and to the development of OS. Electronic supplementary material The online version of this article (doi:10.1007/s00439-007-0456-6) contains supplementary material, which is available to authorized users.

Details

show
hide
Language(s): eng - English
 Dates: 2008-01-03
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Human Genetics
  Alternative Title : Hum Gen
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 123 (2) Sequence Number: - Start / End Page: 163 - 176 Identifier: ISSN: 0340-6717