Brief Communication abstract
Nature Genetics 40, 1410 - 1412 (2008)
Published online: 9 November 2008 | doi:10.1038/ng.252
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Hans Christian Hennies1,2,19, Uwe Kornak3,4,19, Haikuo Zhang3,4, Johannes Egerer4,5, Xin Zhang3,4, Wenke Seifert1,3, Jirko Kühnisch3, Birgit Budde1, Marc Nätebus1, Francesco Brancati6, William R Wilcox7, Dietmar Müller8, Paige B Kaplan9, Anna Rajab10, Giuseppe Zampino11, Valentina Fodale12, Bruno Dallapiccola6, William Newman13, Kay Metcalfe13, Jill Clayton-Smith13, May Tassabehji13, Beat Steinmann14, Francis A Barr5,15, Peter Nürnberg1,16, Peter Wieacker17 & Stefan Mundlos3,4,18
Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues.
- Cologne Center for Genomics (CCG), University of Cologne, 50674 Cologne, Germany.
- Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
- Institute for Medical Genetics, Charité Universitätsmedizin, 13353 Berlin, Germany.
- Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
- Max Planck Institute for Biochemistry, 82152 Munich, Germany.
- IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, 00198 Rome, Italy and Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. d'Annunzio University Foundation, Chieti, Italy.
- Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
- Institute of Medical Genetics, Klinikum Chemnitz, 09116 Chemnitz, Germany.
- Section of Metabolic Diseases, Children's Hospital of Philadelphia, University of Pennsylvania, Pennsylvania 19104, USA.
- Genetic Unit, Directorate General of Health Affairs, Ministry of Health, Muscat 113, Sultanate of Oman.
- Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
- Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, 00161 Rome, Italy.
- Medical Genetics, St Mary's Hospital, University of Manchester, Manchester M13 0JH, UK.
- Division of Metabolism and Molecular Pediatrics, University Children's Hospital, 8032 Zurich, Switzerland.
- Cancer Research Centre, University of Liverpool, Liverpool L3 9TA, UK.
- Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany.
- Institut für Humangenetik, Westfälische Wilhelms-Universität, 48149 Münster, Germany.
- Berlin-Brandenburg Center for Regenerative Therapies, 14195 Berlin, Germany.
- These authors contributed equally to this work.
Correspondence to: Stefan Mundlos3,4,18 e-mail: stefan.mundlos@charite.de
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
RESEARCH
A missense mutation in ALDH18A1, encoding Δ 1 -pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndromeEuropean Journal of Human Genetics Article Response
