Human Molecular Genetics Advance Access originally published online on September 4, 2008
Human Molecular Genetics 2008 17(23):3814-3821; doi:10.1093/hmg/ddn279
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Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form
1 Institute of Human Genetics, University of Tübingen, Wilhelmstr. 27, D-72074 Tübingen, Germany 2 Department of Otorhinolaryngology, Tübingen Hearing Research Center (THRC), Molecular Neurobiology and Cell Biology of the Inner Ear 3 Department of Otorhinolaryngology, THRC, Molecular Genetics, University of Tübingen, 72076 Tübingen, Germany 4 Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Tübingen, Auf der Morgenstelle 8, 72076 Tübingen, Germany
* To whom correspondence should be addressed. Tel: +49 70712978251; Fax: +49 7071295233; Email: paulinaheidrych{at}yahoo.com
Received June 26, 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.
These authors contributed equally to this work.
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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. [Abstract] [Full Text] [PDF]
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