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Human Molecular Genetics Advance Access published online on September 4, 2008
Human Molecular Genetics, doi:10.1093/hmg/ddn279
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form

Paulina Heidrych1,*, Ulrike Zimmermann2, Andreas Breß3, Carsten M. Pusch1, Peter Ruth4, Markus Pfister3, Marlies Knipper2,# and Nikolaus Blin1,#

1 University of Tübingen, Institute of Human Genetics, Wilhelmstr. 27, 72074 Tübingen, Germany 2 University of Tübingen, Department of Otorhinolaryngology, Tübingen Hearing Research Center (THRC), Molecular Neurobiology & Cell Biology of the Inner Ear, 72076 Tübingen, Germany 3 University of Tübingen, Department of Otorhinolaryngology, THRC, Molecular Genetics, 72076 Tübingen, Germany 4 University of Tübingen, Institute of Pharmacy, Department of Pharmacology and Toxicology, Auf der Morgenstelle 8, 72076 Tübingen, Germany

* Correspondence to: Paulina Heidrych University of Tübingen Institute of Human Genetics Wilhelmstr. 27 D-72074 Tübingen, Germany Tel: +49 7071-2978251; Fax: +49 7071-295233; Email: paulinaheidrych{at}yahoo.com

Received June 26, 2008; Revised September 2, 2008; Accepted September 2, 2008

Mutations within OTOF encoding otoferlin lead to a recessive disorder called DFNB9. Several studies have indicated otoferlin's association with ribbon synapses of cochlear sensory hair cells, as well as data showing the protein's presence in neurons, nerve fibers and hair cells, suggesting a more ubiquitous function. Otoferlin's co-localization not only with ribbon synaptic proteins, but also with additional endosomal (EEA1) or Golgi proteins (GM130) were motivation for a search for further binding partners of otoferlin by a yeast two-hybrid screen in a rodent cochlear cDNA library (P3-P15). This screen identified Rab8b GTPase as a novel interacting partner, substantiated by transient co-expression and co-localization in HEK 293 cells and co-immunoprecipitation of the complex using tagged proteins in vitro and native proteins from cochlea. This finding implies that otoferlin could be a part of components contributing to trans-Golgi trafficking.

# equal contribution


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P. Heidrych, U. Zimmermann, S. Kuhn, C. Franz, J. Engel, S. V. Duncker, B. Hirt, C. M. Pusch, P. Ruth, M. Pfister, et al.
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell
Hum. Mol. Genet., August 1, 2009; 18(15): 2779 - 2790.
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