MPI für molekulare Genetik / Department of Human Molecular Genetics |
|Characterization of FBX25, encoding a novel brain-expressed F-box protein|
|Authors:||Hagens, Olivier; Minina, Eleonora; Schweiger, Susann; Ropers, Hans-Hilger; Kalscheuer, Vera M.|
|Date of Publication (YYYY-MM-DD):||2006-01-01|
|Title of Journal:||Biochimica et Biophysica Acta (BBA) - General Subjects|
|Issue / Number:||1|
|Copyright:||© 2005 Elsevier B.V. All rights reserved.|
|Review Status:||not specified|
|Abstract / Description:||F-box proteins (FBPs) confer substrate specificity to the SCF-type (Skp1/Cul1/FBP) of ubiquitin ligase complexes through their F-box. Multiple FBPs have been predicted, but experimental evidence is lagging. We report on the predicted human FBP hFBX25 which we found to be disrupted in a mentally retarded translocation carrier suffering from epileptic seizures. We investigated hFBX25′s genomic organization and established hFBX25 as an FBP by verifying its interaction with Skp1 and Cul1. In the process, we identified an atypical serine residue in the F-box which is crucial for the hFBX25-Skp1 binding. We determined hFBX25′s subcellular localization. We found strong transcription in human brain. In mouse embryonic sections, mFbx25 shows predominantly neuronal expression and in adult mouse brain, expression is confined to the hippocampus, the cerebral cortex and the Purkinje cell layer. Interestingly, aberrations in the ubiquitin pathway have been linked to neurological conditions.|
|Free Keywords:||FBX25; F-box protein; SCF; Neuronal expression; Ubiquitin pathway|
|Comment of the Author/Creator:||Corresponding author:E.Minina: Tel.: +49 30 8413 1293; fax: +49 30 8413 1383.
Present address: GSF-National Research Center for Environment and Health, Institute of Developmental Genetics, Neuherberg, Germany.
|External Publication Status:||published|
|Communicated by:||Hans-Hilger Ropers|
|Affiliations:||MPI für molekulare Genetik|
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