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

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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.

Original language	English
Pages (from-to)	1410-2
Number of pages	3
Journal	Nature Genetics
Volume	40
Issue number	12
Early online date	9 Nov 2008
DOIs	https://doi.org/10.1038/ng.252
Publication status	Published - Dec 2008
Externally published	Yes

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SDG 3 Good Health and Well-being

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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), 1410-2. https://doi.org/10.1038/ng.252

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

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.",

keywords = "Bone Diseases, Carrier Proteins, Chromosomes, Human, Pair 1, Female, Humans, Infant, Male, Pedigree, Skin Diseases, Genetic, rab GTP-Binding Proteins, Journal Article, Research Support, Non-U.S. Gov't",

author = "Hennies, \{Hans Christian\} and Uwe Kornak and Haikuo Zhang and Johannes Egerer and Xin Zhang and Wenke Seifert and Jirko K{\"u}hnisch and Birgit Budde and Marc N{\"a}tebus and Francesco Brancati and Wilcox, \{William R\} and Dietmar M{\"u}ller and Kaplan, \{Paige B\} and Anna Rajab and Giuseppe Zampino and Valentina Fodale and Bruno Dallapiccola and William Newman and Kay Metcalfe and Jill Clayton-Smith and May Tassabehji and Beat Steinmann and Barr, \{Francis A\} and Peter N{\"u}rnberg and Peter Wieacker and Stefan Mundlos",

year = "2008",

month = dec,

doi = "10.1038/ng.252",

language = "English",

volume = "40",

pages = "1410--2",

journal = "Nature Genetics",

issn = "1061-4036",

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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. 1410-2. https://doi.org/10.1038/ng.252

TY - JOUR

T1 - Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

AU - Hennies, Hans Christian

AU - Kornak, Uwe

AU - Zhang, Haikuo

AU - Egerer, Johannes

AU - Zhang, Xin

AU - Seifert, Wenke

AU - Kühnisch, Jirko

AU - Budde, Birgit

AU - Nätebus, Marc

AU - Brancati, Francesco

AU - Wilcox, William R

AU - Müller, Dietmar

AU - Kaplan, Paige B

AU - Rajab, Anna

AU - Zampino, Giuseppe

AU - Fodale, Valentina

AU - Dallapiccola, Bruno

AU - Newman, William

AU - Metcalfe, Kay

AU - Clayton-Smith, Jill

AU - Tassabehji, May

AU - Steinmann, Beat

AU - Barr, Francis A

AU - Nürnberg, Peter

AU - Wieacker, Peter

AU - Mundlos, Stefan

PY - 2008/12

Y1 - 2008/12

N2 - 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.

AB - 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.

KW - Bone Diseases

KW - Carrier Proteins

KW - Chromosomes, Human, Pair 1

KW - Female

KW - Humans

KW - Infant

KW - Male

KW - Pedigree

KW - Skin Diseases, Genetic

KW - rab GTP-Binding Proteins

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

UR - https://www.nature.com/ng/

U2 - 10.1038/ng.252

DO - 10.1038/ng.252

M3 - Article

C2 - 18997784

SN - 1061-4036

VL - 40

SP - 1410

EP - 1412

JO - Nature Genetics

JF - Nature Genetics

IS - 12

ER -

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

Abstract

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