Interactions in the network of Usher syndrome type 1 proteins

Publication type:
Journal article
Metadata:
Autoren
  • A Adato
  • V Michel
  • Y Kikkawa
  • J Reiners
  • KN Alagramam
  • D Weil
  • H Yonekawa
  • U Wolfrum
  • A El-Amraoui
  • C Petit
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000226477800001&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.1093/hmg/ddi031
eISSN
1460-2083
Externe Identifier
  • Clarivate Analytics Document Solution ID: 889YC
  • PubMed Identifier: 15590703
ISSN
0964-6906
Ausgabe der Veröffentlichung
3
Zeitschrift
HUMAN MOLECULAR GENETICS
Paginierung
347 - 356
Datum der Veröffentlichung
2005
Status
Published
Titel
Interactions in the network of Usher syndrome type 1 proteins
Sub types
  • Article
Ausgabe der Zeitschrift
14

Data source: Web of Science (Lite)

Other metadata sources:
Autoren
  • Avital Adato
  • Vincent Michel
  • Yoshiaki Kikkawa
  • Jan Reiners
  • Kumar N Alagramam
  • Dominique Weil
  • Hiromichi Yonekawa
  • Uwe Wolfrum
  • Aziz El-Amraoui
  • Christine Petit
DOI
10.1093/hmg/ddi031
eISSN
1460-2083
ISSN
0964-6906
Ausgabe der Veröffentlichung
3
Zeitschrift
Human Molecular Genetics
Sprache
en
Online publication date
2004
Paginierung
347 - 356
Datum der Veröffentlichung
2005
Status
Published
Herausgeber
Oxford University Press (OUP)
Herausgeber URL
http://dx.doi.org/10.1093/hmg/ddi031
Datum der Datenerfassung
2021
Titel
Interactions in the network of Usher syndrome type 1 proteins
Ausgabe der Zeitschrift
14

Data source: Crossref

Abstract
Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1). Mouse mutants for all these proteins exhibit disorganization of their hair bundle, which is the mechanotransduction receptive structure of the inner ear sensory cells, the cochlear and vestibular hair cells. We have previously demonstrated that harmonin interacts with cadherin 23 and myosin VIIa. Here we address the extent of interactions between the five known USH1 proteins. We establish the previously suggested sans-harmonin interaction and find that sans also binds to myosin VIIa. We show that sans can form homomeric structures and that harmonin b can interact with all harmonin isoforms. We reveal that harmonin also binds to protocadherin 15. Molecular characterization of these interactions indicates that through its binding to four of the five USH1 proteins, the first PDZ domain (PDZ1) of harmonin plays a central role in this network. We localize sans in the apical region of cochlear and vestibular hair cell bodies underneath the cuticular plate. In contrast to the other four known USH1 proteins, no sans labeling was detected within the stereocilia. We propose that via its binding to myosin VIIa and/or harmonin, sans controls the hair bundle cohesion and proper development by regulating the traffic of USH1 proteins en route to the stereocilia.
Addresses
  • Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris cedex 15, France.
Autoren
  • Avital Adato
  • Vincent Michel
  • Yoshiaki Kikkawa
  • Jan Reiners
  • Kumar N Alagramam
  • Dominique Weil
  • Hiromichi Yonekawa
  • Uwe Wolfrum
  • Aziz El-Amraoui
  • Christine Petit
DOI
10.1093/hmg/ddi031
eISSN
1460-2083
Externe Identifier
  • PubMed Identifier: 15590703
Funding acknowledgements
  • NIDCD NIH HHS: R01 DC05385
Open access
false
ISSN
0964-6906
Ausgabe der Veröffentlichung
3
Zeitschrift
Human molecular genetics
Schlüsselwörter
  • Hela Cells
  • Animals
  • Humans
  • Mice
  • Hearing Loss, Sensorineural
  • Retinitis Pigmentosa
  • Syndrome
  • Myosins
  • Carrier Proteins
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Cadherins
  • Nerve Tissue Proteins
  • Protein Precursors
  • Two-Hybrid System Techniques
  • Protein Binding
  • Mutation
  • Hair Cells, Auditory
  • Dyneins
  • Cadherin Related Proteins
  • Myosin VIIa
Sprache
eng
Medium
Print-Electronic
Online publication date
2004
Paginierung
347 - 356
Datum der Veröffentlichung
2005
Status
Published
Datum der Datenerfassung
2004
Titel
Interactions in the network of Usher syndrome type 1 proteins.
Sub types
  • Research Support, U.S. Gov't, P.H.S.
  • Research Support, Non-U.S. Gov't
  • Journal Article
  • Research Support, N.I.H., Extramural
Ausgabe der Zeitschrift
14

Data source: Europe PubMed Central

Abstract
Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1). Mouse mutants for all these proteins exhibit disorganization of their hair bundle, which is the mechanotransduction receptive structure of the inner ear sensory cells, the cochlear and vestibular hair cells. We have previously demonstrated that harmonin interacts with cadherin 23 and myosin VIIa. Here we address the extent of interactions between the five known USH1 proteins. We establish the previously suggested sans-harmonin interaction and find that sans also binds to myosin VIIa. We show that sans can form homomeric structures and that harmonin b can interact with all harmonin isoforms. We reveal that harmonin also binds to protocadherin 15. Molecular characterization of these interactions indicates that through its binding to four of the five USH1 proteins, the first PDZ domain (PDZ1) of harmonin plays a central role in this network. We localize sans in the apical region of cochlear and vestibular hair cell bodies underneath the cuticular plate. In contrast to the other four known USH1 proteins, no sans labeling was detected within the stereocilia. We propose that via its binding to myosin VIIa and/or harmonin, sans controls the hair bundle cohesion and proper development by regulating the traffic of USH1 proteins en route to the stereocilia.
Autoren
  • Avital Adato
  • Vincent Michel
  • Yoshiaki Kikkawa
  • Jan Reiners
  • Kumar N Alagramam
  • Dominique Weil
  • Hiromichi Yonekawa
  • Uwe Wolfrum
  • Aziz El-Amraoui
  • Christine Petit
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/15590703
DOI
10.1093/hmg/ddi031
Funding acknowledgements
  • NIDCD NIH HHS: R01 DC05385
ISSN
0964-6906
Ausgabe der Veröffentlichung
3
Zeitschrift
Hum Mol Genet
Schlüsselwörter
  • Animals
  • Cadherin Related Proteins
  • Cadherins
  • Carrier Proteins
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Dyneins
  • Hair Cells, Auditory
  • HeLa Cells
  • Hearing Loss, Sensorineural
  • Humans
  • Mice
  • Mutation
  • Myosin VIIa
  • Myosins
  • Nerve Tissue Proteins
  • Protein Binding
  • Protein Precursors
  • Retinitis Pigmentosa
  • Syndrome
  • Two-Hybrid System Techniques
Sprache
eng
Country
England
Paginierung
347 - 356
PII
ddi031
Datum der Veröffentlichung
2005
Status
Published
Datum, an dem der Datensatz öffentlich gemacht wurde
2005
Titel
Interactions in the network of Usher syndrome type 1 proteins.
Sub types
  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
Ausgabe der Zeitschrift
14

Data source: PubMed

Beziehungen:
Property of

Tools