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A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

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A variant in IL6ST with a selective IL-11 signaling defect in human and mouse. / Schwerd, Tobias; Krause, Freia; Twigg, Stephen R F; Aschenbrenner, Dominik; Chen, Yin-Huai; Borgmeyer, Uwe; Müller, Miryam; Manrique, Santiago; Schumacher, Neele; Wall, Steven A; Jung, Jonathan; Damm, Timo; Glüer, Claus-Christian; Scheller, Jürgen; Rose-John, Stefan; Jones, E Yvonne; Laurence, Arian; Wilkie, Andrew O M; Schmidt-Arras, Dirk; Uhlig, Holm H.

in: BONE RES, Jahrgang 8, 11.06.2020, S. 24.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Schwerd, T, Krause, F, Twigg, SRF, Aschenbrenner, D, Chen, Y-H, Borgmeyer, U, Müller, M, Manrique, S, Schumacher, N, Wall, SA, Jung, J, Damm, T, Glüer, C-C, Scheller, J, Rose-John, S, Jones, EY, Laurence, A, Wilkie, AOM, Schmidt-Arras, D & Uhlig, HH 2020, 'A variant in IL6ST with a selective IL-11 signaling defect in human and mouse', BONE RES, Jg. 8, S. 24. https://doi.org/10.1038/s41413-020-0098-z

APA

Schwerd, T., Krause, F., Twigg, S. R. F., Aschenbrenner, D., Chen, Y-H., Borgmeyer, U., Müller, M., Manrique, S., Schumacher, N., Wall, S. A., Jung, J., Damm, T., Glüer, C-C., Scheller, J., Rose-John, S., Jones, E. Y., Laurence, A., Wilkie, A. O. M., Schmidt-Arras, D., & Uhlig, H. H. (2020). A variant in IL6ST with a selective IL-11 signaling defect in human and mouse. BONE RES, 8, 24. https://doi.org/10.1038/s41413-020-0098-z

Vancouver

Schwerd T, Krause F, Twigg SRF, Aschenbrenner D, Chen Y-H, Borgmeyer U et al. A variant in IL6ST with a selective IL-11 signaling defect in human and mouse. BONE RES. 2020 Jun 11;8:24. https://doi.org/10.1038/s41413-020-0098-z

Bibtex

@article{59932410b4894ff2a55bfed5fa0d8314,
title = "A variant in IL6ST with a selective IL-11 signaling defect in human and mouse",
abstract = "The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynostosis and retained deciduous teeth. We characterize the impact of the variant on cytokine signaling in vitro using transfected cell lines as well as primary patient-derived cells and support these findings using a mouse model with the corresponding genome-edited variant Il6st p.R279Q. We show that human GP130 p.R281Q is associated with selective loss of IL-11 signaling without affecting IL-6, IL-27, OSM, LIF, CT1, CLC, and CNTF signaling. In mice Il6st p.R279Q lowers litter size and causes facial synostosis and teeth abnormalities. The effect on IL-11 signaling caused by the GP130 variant shows incomplete penetrance but phenocopies aspects of IL11RA deficiency in humans and mice. Our data show that a genetic variant in a pleiotropic cytokine receptor can have remarkably selective defects.",
author = "Tobias Schwerd and Freia Krause and Twigg, {Stephen R F} and Dominik Aschenbrenner and Yin-Huai Chen and Uwe Borgmeyer and Miryam M{\"u}ller and Santiago Manrique and Neele Schumacher and Wall, {Steven A} and Jonathan Jung and Timo Damm and Claus-Christian Gl{\"u}er and J{\"u}rgen Scheller and Stefan Rose-John and Jones, {E Yvonne} and Arian Laurence and Wilkie, {Andrew O M} and Dirk Schmidt-Arras and Uhlig, {Holm H}",
note = "{\textcopyright} The Author(s) 2020.",
year = "2020",
month = jun,
day = "11",
doi = "10.1038/s41413-020-0098-z",
language = "English",
volume = "8",
pages = "24",
journal = "BONE RES",
issn = "2095-4700",
publisher = "NATURE PUBLISHING GROUP",

}

RIS

TY - JOUR

T1 - A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

AU - Schwerd, Tobias

AU - Krause, Freia

AU - Twigg, Stephen R F

AU - Aschenbrenner, Dominik

AU - Chen, Yin-Huai

AU - Borgmeyer, Uwe

AU - Müller, Miryam

AU - Manrique, Santiago

AU - Schumacher, Neele

AU - Wall, Steven A

AU - Jung, Jonathan

AU - Damm, Timo

AU - Glüer, Claus-Christian

AU - Scheller, Jürgen

AU - Rose-John, Stefan

AU - Jones, E Yvonne

AU - Laurence, Arian

AU - Wilkie, Andrew O M

AU - Schmidt-Arras, Dirk

AU - Uhlig, Holm H

N1 - © The Author(s) 2020.

PY - 2020/6/11

Y1 - 2020/6/11

N2 - The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynostosis and retained deciduous teeth. We characterize the impact of the variant on cytokine signaling in vitro using transfected cell lines as well as primary patient-derived cells and support these findings using a mouse model with the corresponding genome-edited variant Il6st p.R279Q. We show that human GP130 p.R281Q is associated with selective loss of IL-11 signaling without affecting IL-6, IL-27, OSM, LIF, CT1, CLC, and CNTF signaling. In mice Il6st p.R279Q lowers litter size and causes facial synostosis and teeth abnormalities. The effect on IL-11 signaling caused by the GP130 variant shows incomplete penetrance but phenocopies aspects of IL11RA deficiency in humans and mice. Our data show that a genetic variant in a pleiotropic cytokine receptor can have remarkably selective defects.

AB - The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynostosis and retained deciduous teeth. We characterize the impact of the variant on cytokine signaling in vitro using transfected cell lines as well as primary patient-derived cells and support these findings using a mouse model with the corresponding genome-edited variant Il6st p.R279Q. We show that human GP130 p.R281Q is associated with selective loss of IL-11 signaling without affecting IL-6, IL-27, OSM, LIF, CT1, CLC, and CNTF signaling. In mice Il6st p.R279Q lowers litter size and causes facial synostosis and teeth abnormalities. The effect on IL-11 signaling caused by the GP130 variant shows incomplete penetrance but phenocopies aspects of IL11RA deficiency in humans and mice. Our data show that a genetic variant in a pleiotropic cytokine receptor can have remarkably selective defects.

U2 - 10.1038/s41413-020-0098-z

DO - 10.1038/s41413-020-0098-z

M3 - SCORING: Journal article

C2 - 32566365

VL - 8

SP - 24

JO - BONE RES

JF - BONE RES

SN - 2095-4700

ER -