TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Publikationstyp:
Zeitschriftenaufsatz
Metadaten:
Autoren
  • Louise A Stephen
  • Hasan Tawamie
  • Gemma M Davis
  • Lars Tebbe
  • Peter Nuernberg
  • Gudrun Nuernberg
  • Holger Thiele
  • Michaela Thoenes
  • Eugen Boltshauser
  • Steffen Uebe
  • Oliver Rompel
  • Andre Reis
  • Arif B Ekici
  • Lynn McTeir
  • Amy M Fraser
  • Emma A Hall
  • Pleasantine Mill
  • Nicolas Daudet
  • Courtney Cross
  • Uwe Wolfrum
  • Rami Abou Jamra
  • Megan G Davey
  • Hanno J Bolz
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000373873300001&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.7554/eLife.08077
Externe Identifier
  • Clarivate Analytics Document Solution ID: DJ0DZ
  • PubMed Identifier: 26386247
ISSN
2050-084X
Zeitschrift
ELIFE
Artikelnummer
ARTN e08077
Datum der Veröffentlichung
2015
Status
Published
Titel
TALPID3 controls centrosome and cell polarity and the human ortholog <i>KIAA0586</i> is mutated in Joubert syndrome (<i>JBTS23</i>)
Sub types
  • Article
Ausgabe der Zeitschrift
4

Datenquelle: Web of Science (Lite)

Andere Metadatenquellen:
Abstract
<jats:p>Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus,<jats:italic>JBTS23</jats:italic>, with a homozygous splice site mutation in<jats:italic>KIAA0586</jats:italic>(alias<jats:italic>TALPID3</jats:italic>), a known lethal ciliopathy locus in model organisms. Truncating<jats:italic>KIAA0586</jats:italic>mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects.</jats:p>
Autoren
  • Louise A Stephen
  • Hasan Tawamie
  • Gemma M Davis
  • Lars Tebbe
  • Peter Nürnberg
  • Gudrun Nürnberg
  • Holger Thiele
  • Michaela Thoenes
  • Eugen Boltshauser
  • Steffen Uebe
  • Oliver Rompel
  • André Reis
  • Arif B Ekici
  • Lynn McTeir
  • Amy M Fraser
  • Emma A Hall
  • Pleasantine Mill
  • Nicolas Daudet
  • Courtney Cross
  • Uwe Wolfrum
  • Rami Abou Jamra
  • Megan G Davey
  • Hanno J Bolz
DOI
10.7554/elife.08077
eISSN
2050-084X
Zeitschrift
eLife
Sprache
en
Online publication date
2015
Status
Published online
Herausgeber
eLife Sciences Publications, Ltd
Herausgeber URL
http://dx.doi.org/10.7554/elife.08077
Datum der Datenerfassung
2023
Titel
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
Ausgabe der Zeitschrift
4

Datenquelle: Crossref

Abstract
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects.
Addresses
  • Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.
Autoren
  • Louise A Stephen
  • Hasan Tawamie
  • Gemma M Davis
  • Lars Tebbe
  • Peter Nürnberg
  • Gudrun Nürnberg
  • Holger Thiele
  • Michaela Thoenes
  • Eugen Boltshauser
  • Steffen Uebe
  • Oliver Rompel
  • André Reis
  • Arif B Ekici
  • Lynn McTeir
  • Amy M Fraser
  • Emma A Hall
  • Pleasantine Mill
  • Nicolas Daudet
  • Courtney Cross
  • Uwe Wolfrum
  • Rami Abou Jamra
  • Megan G Davey
  • Hanno J Bolz
DOI
10.7554/elife.08077
eISSN
2050-084X
Externe Identifier
  • PubMed Identifier: 26386247
  • PubMed Central ID: PMC4641851
Funding acknowledgements
  • Biotechnology and Biological Sciences Research Council: BBS/E/R/00001614
  • Biotechnology and Biological Sciences Research Council: BB/F024347/1
  • Medical Research Council: MC_UU_12018/26
  • Biotechnology and Biological Sciences Research Council: 1513235
  • Biotechnology and Biological Sciences Research Council: BB/L003163/1
  • Biotechnology and Biological Sciences Research Council: BBS/E/D/20221657
Open access
true
ISSN
2050-084X
Zeitschrift
eLife
Schlüsselwörter
  • Cerebellum
  • Retina
  • Centrosome
  • Animals
  • Humans
  • Mice
  • Eye Abnormalities
  • Abnormalities, Multiple
  • Disease Models, Animal
  • Cell Cycle Proteins
  • Cell Polarity
  • Mutation
  • Kidney Diseases, Cystic
Sprache
eng
Medium
Electronic
Online publication date
2015
Open access status
Open Access
Paginierung
e08077
Datum der Veröffentlichung
2015
Status
Published
Publisher licence
CC BY
Datum der Datenerfassung
2015
Titel
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Sub types
  • Research Support, Non-U.S. Gov't
  • research-article
  • Journal Article
Ausgabe der Zeitschrift
4

Files

https://europepmc.org/articles/PMC4641851?pdf=render

Datenquelle: Europe PubMed Central

Abstract
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects.
Date of acceptance
2015
Autoren
  • Louise A Stephen
  • Hasan Tawamie
  • Gemma M Davis
  • Lars Tebbe
  • Peter Nürnberg
  • Gudrun Nürnberg
  • Holger Thiele
  • Michaela Thoenes
  • Eugen Boltshauser
  • Steffen Uebe
  • Oliver Rompel
  • André Reis
  • Arif B Ekici
  • Lynn McTeir
  • Amy M Fraser
  • Emma A Hall
  • Pleasantine Mill
  • Nicolas Daudet
  • Courtney Cross
  • Uwe Wolfrum
  • Rami Abou Jamra
  • Megan G Davey
  • Hanno J Bolz
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/26386247
DOI
10.7554/eLife.08077
eISSN
2050-084X
Externe Identifier
  • PubMed Central ID: PMC4641851
Funding acknowledgements
  • Biotechnology and Biological Sciences Research Council: BB/F024347/1
  • Biotechnology and Biological Sciences Research Council: BBS/E/R/00001614
  • Medical Research Council: MC_UU_12018/26
Zeitschrift
Elife
Schlüsselwörter
  • Joubert syndrome
  • KIAA0586
  • Talpid3
  • cell polarity
  • centrosome
  • chicken
  • ciliopathy
  • developmental biology
  • human
  • human biology
  • medicine
  • mouse
  • stem cells
  • Abnormalities, Multiple
  • Animals
  • Cell Cycle Proteins
  • Cell Polarity
  • Centrosome
  • Cerebellum
  • Disease Models, Animal
  • Eye Abnormalities
  • Humans
  • Kidney Diseases, Cystic
  • Mice
  • Mutation
  • Retina
Sprache
eng
Country
England
PII
e08077
Datum der Veröffentlichung
2015
Status
Published online
Datum, an dem der Datensatz öffentlich gemacht wurde
2016
Titel
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Sub types
  • Journal Article
  • Research Support, Non-U.S. Gov't
Ausgabe der Zeitschrift
4

Datenquelle: PubMed

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