PortalPublikationenUSH2A is a Meissner's corpuscle protein necessary for normal...

USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans

Standard

USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans. / Schwaller, Fred; Bégay, Valérie; García-García, Gema; Taberner, Francisco J; Moshourab, Rabih; McDonald, Brennan; Docter, Trevor; Kühnemund, Johannes; Ojeda-Alonso, Julia; Paricio-Montesinos, Ricardo; Lechner, Stefan G; Poulet, James F A; Millan, Jose M; Lewin, Gary R.

in: NAT NEUROSCI, Jahrgang 24, Nr. 1, 01.2021, S. 74-81.

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

Harvard

Schwaller, F, Bégay, V, García-García, G, Taberner, FJ, Moshourab, R, McDonald, B, Docter, T, Kühnemund, J, Ojeda-Alonso, J, Paricio-Montesinos, R, Lechner, SG, Poulet, JFA, Millan, JM & Lewin, GR 2021, 'USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans', NAT NEUROSCI, Jg. 24, Nr. 1, S. 74-81. https://doi.org/10.1038/s41593-020-00751-y

APA

Schwaller, F., Bégay, V., García-García, G., Taberner, F. J., Moshourab, R., McDonald, B., Docter, T., Kühnemund, J., Ojeda-Alonso, J., Paricio-Montesinos, R., Lechner, S. G., Poulet, J. F. A., Millan, J. M., & Lewin, G. R. (2021). USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans. NAT NEUROSCI, 24(1), 74-81. https://doi.org/10.1038/s41593-020-00751-y

Vancouver

Schwaller F, Bégay V, García-García G, Taberner FJ, Moshourab R, McDonald B et al. USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans. NAT NEUROSCI. 2021 Jan;24(1):74-81. https://doi.org/10.1038/s41593-020-00751-y

Bibtex

@article{f120593865b745a5a3fe36d5f586a663,
title = "USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans",
abstract = "Fingertip mechanoreceptors comprise sensory neuron endings together with specialized skin cells that form the end-organ. Exquisitely sensitive, vibration-sensing neurons are associated with Meissner's corpuscles in the skin. In the present study, we found that USH2A, a transmembrane protein with a very large extracellular domain, was found in terminal Schwann cells within Meissner's corpuscles. Pathogenic USH2A mutations cause Usher's syndrome, associated with hearing loss and visual impairment. We show that patients with biallelic pathogenic USH2A mutations also have clear and specific impairments in vibrotactile touch perception, as do mutant mice lacking USH2A. Forepaw rapidly adapting mechanoreceptors innervating Meissner's corpuscles, recorded from Ush2a-/- mice, showed large reductions in vibration sensitivity. However, the USH2A protein was not found in sensory neurons. Thus, loss of USH2A in corpuscular end-organs reduced mechanoreceptor sensitivity as well as vibration perception. Thus, a tether-like protein is required to facilitate detection of small-amplitude vibrations essential for the perception of fine-grained tactile surfaces.",
keywords = "Adult, Animals, Extracellular Matrix Proteins/genetics, Female, Humans, Male, Mechanoreceptors/metabolism, Mice, Mice, Inbred CBA, Mice, Knockout, Mutation/genetics, Schwann Cells/physiology, Sensation/physiology, Skin/innervation, Touch/physiology, Usher Syndromes/genetics, Vibration",
author = "Fred Schwaller and Val{\'e}rie B{\'e}gay and Gema Garc{\'i}a-Garc{\'i}a and Taberner, {Francisco J} and Rabih Moshourab and Brennan McDonald and Trevor Docter and Johannes K{\"u}hnemund and Julia Ojeda-Alonso and Ricardo Paricio-Montesinos and Lechner, {Stefan G} and Poulet, {James F A} and Millan, {Jose M} and Lewin, {Gary R}",
year = "2021",
month = jan,
doi = "10.1038/s41593-020-00751-y",
language = "English",
volume = "24",
pages = "74--81",
journal = "NAT NEUROSCI",
issn = "1097-6256",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

TY - JOUR

T1 - USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans

AU - Schwaller, Fred

AU - Bégay, Valérie

AU - García-García, Gema

AU - Taberner, Francisco J

AU - Moshourab, Rabih

AU - McDonald, Brennan

AU - Docter, Trevor

AU - Kühnemund, Johannes

AU - Ojeda-Alonso, Julia

AU - Paricio-Montesinos, Ricardo

AU - Lechner, Stefan G

AU - Poulet, James F A

AU - Millan, Jose M

AU - Lewin, Gary R

PY - 2021/1

Y1 - 2021/1

N2 - Fingertip mechanoreceptors comprise sensory neuron endings together with specialized skin cells that form the end-organ. Exquisitely sensitive, vibration-sensing neurons are associated with Meissner's corpuscles in the skin. In the present study, we found that USH2A, a transmembrane protein with a very large extracellular domain, was found in terminal Schwann cells within Meissner's corpuscles. Pathogenic USH2A mutations cause Usher's syndrome, associated with hearing loss and visual impairment. We show that patients with biallelic pathogenic USH2A mutations also have clear and specific impairments in vibrotactile touch perception, as do mutant mice lacking USH2A. Forepaw rapidly adapting mechanoreceptors innervating Meissner's corpuscles, recorded from Ush2a-/- mice, showed large reductions in vibration sensitivity. However, the USH2A protein was not found in sensory neurons. Thus, loss of USH2A in corpuscular end-organs reduced mechanoreceptor sensitivity as well as vibration perception. Thus, a tether-like protein is required to facilitate detection of small-amplitude vibrations essential for the perception of fine-grained tactile surfaces.

AB - Fingertip mechanoreceptors comprise sensory neuron endings together with specialized skin cells that form the end-organ. Exquisitely sensitive, vibration-sensing neurons are associated with Meissner's corpuscles in the skin. In the present study, we found that USH2A, a transmembrane protein with a very large extracellular domain, was found in terminal Schwann cells within Meissner's corpuscles. Pathogenic USH2A mutations cause Usher's syndrome, associated with hearing loss and visual impairment. We show that patients with biallelic pathogenic USH2A mutations also have clear and specific impairments in vibrotactile touch perception, as do mutant mice lacking USH2A. Forepaw rapidly adapting mechanoreceptors innervating Meissner's corpuscles, recorded from Ush2a-/- mice, showed large reductions in vibration sensitivity. However, the USH2A protein was not found in sensory neurons. Thus, loss of USH2A in corpuscular end-organs reduced mechanoreceptor sensitivity as well as vibration perception. Thus, a tether-like protein is required to facilitate detection of small-amplitude vibrations essential for the perception of fine-grained tactile surfaces.

KW - Adult

KW - Animals

KW - Extracellular Matrix Proteins/genetics

KW - Female

KW - Humans

KW - Male

KW - Mechanoreceptors/metabolism

KW - Mice

KW - Mice, Inbred CBA

KW - Mice, Knockout

KW - Mutation/genetics

KW - Schwann Cells/physiology

KW - Sensation/physiology

KW - Skin/innervation

KW - Touch/physiology

KW - Usher Syndromes/genetics

KW - Vibration

U2 - 10.1038/s41593-020-00751-y

DO - 10.1038/s41593-020-00751-y

M3 - SCORING: Journal article

C2 - 33288907

VL - 24

SP - 74

EP - 81

JO - NAT NEUROSCI

JF - NAT NEUROSCI

SN - 1097-6256

IS - 1

ER -