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Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis |
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| Authors: | Nousbeck Janna Spiegel Ronen Ishida-Yamamoto Akemi Indelman Margarita Shani-Adir Ayelet Adir Noam Lipkin Ehud Bercovici Sivan Geiger Dan van Steensel Maurice A Steijlen Peter M Bergman Reuven Bindereif Albrecht Choder Mordechai Shalev Stavit Sprecher Eli |
| Institution: | 1 Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, 31096 Haifa, Israel 2 Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Technion—Israel Institute of Technology, 31096 Haifa, Israel 3 Bruce Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, 31096 Haifa, Israel 4 Schulich Faculty of Chemistry, Technion—Israel Institute of Technology, 31096 Haifa, Israel 5 Computer Science Department, Technion—Israel Institute of Technology, 31096 Haifa, Israel 6 Genetic Institute, Ha'emek Medical Center, 18101 Afula, Israel 7 Department of Dermatology, Ha'emek Medical Center, 18101 Afula, Israel 8 Department of Dermatology, Asahikawa Medical College, 078-8510 Asahikawa, Japan 9 Department of Dermatology, University Hospital Maastricht, 6202 AZ Maastricht, The Netherlands 10 Institute of Biochemistry, Department of Biology and Chemistry, Justus-Liebig-University of Giessen, 35390 Giessen, Germany |
| Abstract: | Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction. |
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