Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

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

doi:10.1038/ng.252

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

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-SmithMay Tassabehji, Beat Steinmann, Francis A. Barr, Peter Nürnberg, Peter Wieacker, Stefan Mundlos

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1410-1412
Number of pages	3
Journal	Nature Genetics
Volume	40
Issue number	12
DOIs	https://doi.org/10.1038/ng.252
Publication status	Published - Dec 2008

ASJC Scopus subject areas

Genetics

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Hennies, H. C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, J., Budde, B., Nätebus, M., Brancati, F., Wilcox, W. R., Müller, D., Kaplan, P. B., Rajab, A., Zampino, G., Fodale, V., Dallapiccola, B., Newman, W., Metcalfe, K., ... Mundlos, S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40(12), 1410-1412. https://doi.org/10.1038/ng.252

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. / Hennies, Hans Christian; Kornak, Uwe; Zhang, Haikuo; Egerer, Johannes; Zhang, Xin; Seifert, Wenke; Kühnisch, Jirko; Budde, Birgit; Nätebus, Marc; Brancati, Francesco; Wilcox, William R.; Müller, Dietmar; Kaplan, Paige B.; Rajab, Anna; Zampino, Giuseppe; Fodale, Valentina; Dallapiccola, Bruno; Newman, William; Metcalfe, Kay; Clayton-Smith, Jill; Tassabehji, May; Steinmann, Beat; Barr, Francis A.; Nürnberg, Peter; Wieacker, Peter; Mundlos, Stefan.

In: Nature Genetics, Vol. 40, No. 12, 12.2008, p. 1410-1412.

Research output: Contribution to journal › Article › peer-review

Hennies, HC, Kornak, U, Zhang, H, Egerer, J, Zhang, X, Seifert, W, Kühnisch, J, Budde, B, Nätebus, M, Brancati, F, Wilcox, WR, Müller, D, Kaplan, PB, Rajab, A, Zampino, G, Fodale, V, Dallapiccola, B, Newman, W, Metcalfe, K, Clayton-Smith, J, Tassabehji, M, Steinmann, B, Barr, FA, Nürnberg, P, Wieacker, P & Mundlos, S 2008, 'Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin', Nature Genetics, vol. 40, no. 12, pp. 1410-1412. https://doi.org/10.1038/ng.252

Hennies, Hans Christian ; Kornak, Uwe ; Zhang, Haikuo ; Egerer, Johannes ; Zhang, Xin ; Seifert, Wenke ; Kühnisch, Jirko ; Budde, Birgit ; Nätebus, Marc ; Brancati, Francesco ; Wilcox, William R. ; Müller, Dietmar ; Kaplan, Paige B. ; Rajab, Anna ; Zampino, Giuseppe ; Fodale, Valentina ; Dallapiccola, Bruno ; Newman, William ; Metcalfe, Kay ; Clayton-Smith, Jill ; Tassabehji, May ; Steinmann, Beat ; Barr, Francis A. ; Nürnberg, Peter ; Wieacker, Peter ; Mundlos, Stefan. / Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. In: Nature Genetics. 2008 ; Vol. 40, No. 12. pp. 1410-1412.

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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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AU - Brancati, Francesco

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