Abstract |
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.
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Authors | Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R Wilcox, Dietmar Müller, Paige B Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William Newman, Kay Metcalfe, Jill Clayton-Smith, May Tassabehji, Beat Steinmann, Francis A Barr, Peter Nürnberg, Peter Wieacker, Stefan Mundlos |
Journal | Nature genetics
(Nat Genet)
Vol. 40
Issue 12
Pg. 1410-2
(Dec 2008)
ISSN: 1546-1718 [Electronic] United States |
PMID | 18997784
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Carrier Proteins
- GORAB protein, human
- Golgi Matrix Proteins
- Rab6 protein
- rab GTP-Binding Proteins
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Topics |
- Bone Diseases
(genetics)
- Carrier Proteins
(genetics, metabolism)
- Chromosomes, Human, Pair 1
(genetics)
- Female
- Golgi Matrix Proteins
- Humans
- Infant
- Male
- Pedigree
- Skin Diseases, Genetic
(genetics)
- rab GTP-Binding Proteins
(metabolism)
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