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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Nature Genetics, Volume 42, No. 7, Year 2010
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Description
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Individuals with CORS2 frequently had nephronophthisis and polydactyly, and two affected individuals conformed to the oro-facio-digital type VI phenotype, whereas skeletal dysplasia was common in fetuses affected by MKS. A single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent (n = 10). TMEM216 localized to the base of primary cilia, and loss of TMEM216 in mutant fibroblasts or after knockdown caused defective ciliogenesis and centrosomal docking, with concomitant hyperactivation of RhoA and Dishevelled. TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS. Disruption of tmem216 expression in zebrafish caused gastrulation defects similar to those in other ciliary morphants. These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders. © 2010 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Valente, Enza Maria
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Messina
Università Degli Studi Di Messina
Logan, Clare V.
United Kingdom, Leeds
St James's University Hospital
Mougou, S.
France, Paris
Hôpital Necker Enfants Malades
Tunisia, Sousse
Hopital Farhat Hached Sousse
Lee, Jeong-Ho
United States, La Jolla
Department of Neurosciences
Silhavy, Jennifer L.
United States, La Jolla
Department of Neurosciences
Brancati, Francesco
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Chieti
University of G. D'annunzio Chieti and Pescara
Iannicelli, Miriam
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Travaglini, Lorena
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Romani, Sveva
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Illi, Barbara
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Adams, Matthew
United Kingdom, Leeds
St James's University Hospital
Szymanska, Katarzyna
United Kingdom, Leeds
St James's University Hospital
Mazzotta, Annalisa
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Lee, Ji Eun
United States, La Jolla
Department of Neurosciences
Tolentino, Jerlyn C.
United States, La Jolla
Department of Neurosciences
Swistun, Dominika
United States, La Jolla
Department of Neurosciences
Salpietro, D. C.
Italy, Messina
Università Degli Studi Di Messina
Fede, Carmelo
Italy, Messina
Università Degli Studi Di Messina
Gabriel, Stacey Bolk
United States, Cambridge
Broad Institute
Russ, Carsten
United States, Cambridge
Broad Institute
Cibulskis, Kristian
United States, Cambridge
Broad Institute
Sougnez, Carrie L.
United States, Cambridge
Broad Institute
Hildebrandt, Friedhelm
United States, Ann Arbor
University of Michigan, Ann Arbor
Otto, Edgar A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Held, Susanne
United States, Ann Arbor
University of Michigan, Ann Arbor
Diplas, Bill H.
United States, Durham
Duke University
Davis, Erica E.
United States, Durham
Duke University
Mikula, Mario
United States, Secaucus
Quest Diagnostics Incorporated
Strom, Charles M.
United States, Secaucus
Quest Diagnostics Incorporated
Ben-Zeev, Bruria
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Lev, Dorit Leshem
Israel, Holon
Edith Wolfson Medical Center Israel
Sagie, Tally Lerman
Israel, Holon
Edith Wolfson Medical Center Israel
Michelson, Marina
Israel, Holon
Edith Wolfson Medical Center Israel
Yaron, Yuval
Israel, Tel Aviv-yafo
Tel Aviv Sourasky Medical Center
Krause, Amanda
South Africa, Johannesburg
University of the Witwatersrand
Boltshauser, Eugen J.
Switzerland, Zurich
Kinderspital Zürich
Elkhartoufi, Nadia
France, Paris
Hôpital Necker Enfants Malades
Roume, Joëlle
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
Shalev, Stavit Allon
Israel, Afula
Emek Medical Center
Münnich, Arnold
France, Paris
Hôpital Necker Enfants Malades
Saunier, Sophie
France, Paris
Inserm
Inglehearn, Chris F.
United Kingdom, Leeds
St James's University Hospital
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Alkindy, Adila
United Kingdom, Cardiff
University Hospital of Wales
Oman, Muscat
Sultan Qaboos University Hospital
Thomas, Sophie
France, Paris
Hôpital Necker Enfants Malades
Vekemans, Michel J.J.
France, Paris
Hôpital Necker Enfants Malades
Dallapiccola, Bruno
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Katsanis, Nicholas
United States, Durham
Duke University
Johnson, Colin A.
United Kingdom, Leeds
St James's University Hospital
Attié-Bitach, Tania
France, Paris
Hôpital Necker Enfants Malades
Gleeson, Joseph G.
United States, La Jolla
Department of Neurosciences
Statistics
Citations: 265
Authors: 51
Affiliations: 22
Identifiers
Doi:
10.1038/ng.594
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics