Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in CSPP1 lead to classical joubert syndrome
American Journal of Human Genetics, Volume 94, No. 1, Year 2014
Notification
URL copied to clipboard!
Description
Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, and kidney. We identified predicted null mutations in CSPP1 in six individuals affected by classical JSRDs. CSPP1 encodes a protein localized to centrosomes and spindle poles, as well as to the primary cilium. Despite the known interaction between CSPP1 and nephronophthisis-associated proteins, none of the affected individuals in our cohort presented with kidney disease, and further, screening of a large cohort of individuals with nephronophthisis demonstrated no mutations. CSPP1 is broadly expressed in neural tissue, and its encoded protein localizes to the primary cilium in an in vitro model of human neurogenesis. Here, we show abrogated protein levels and ciliogenesis in affected fibroblasts. Our data thus suggest that CSPP1 is involved in neural-specific functions of primary cilia. © 2014 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3882909/bin/mmc1.pdf
Authors & Co-Authors
Akizu, Naiara
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Silhavy, Jennifer L.
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Rosti, Rasim Özgür
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Scott, Eric M.
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Fenstermaker, Ali G.
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Schroth, Jana
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Zaki, Maha S.
Egypt, Giza
National Research Centre
Sanchez, Henry
United States, Palo Alto
Palo Alto Medical Foundation
Gupta, Neerja
India, New Delhi
All India Institute of Medical Sciences, new Delhi
Kabra, Madhulika
India, New Delhi
All India Institute of Medical Sciences, new Delhi
Kara, Majdi
Libya, Tripoli
Tripoli Children's Hospital
Ben-Omran, Tawfeg I.M.
Qatar, Doha
Hamad Medical Corporation
Rosti, Başak
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Guemez-Gamboa, Alicia
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Spencer, Emily G.
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Pan, Roger
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Cai, Na
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Abdellateef, Mostafa
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Gabriel, Stacey Bolk
United States, Cambridge
Broad Institute
Halbritter, J.
Egypt, Cairo
Howard Hughes Medical Institute
United States, Boston
Boston Children's Hospital
Hildebrandt, Friedhelm
Egypt, Cairo
Howard Hughes Medical Institute
United States, Boston
Boston Children's Hospital
van Bokhoven, Hans
Netherlands, Nijmegen
Radboud University Medical Center
Günel, Murat
United States, New Haven
Yale School of Medicine
Gleeson, Joseph G.
United States, La Jolla
Department of Neurosciences
Egypt, Cairo
Howard Hughes Medical Institute
Statistics
Citations: 78
Authors: 24
Affiliations: 11
Identifiers
Doi:
10.1016/j.ajhg.2013.11.015
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cohort Study