Embryonic and foetal expression patterns of the ciliopathy gene CEP164

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other clinical manifestations. Mutations in centrosomal protein 164...

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Bibliographic Details
Published in:PloS one 2020-01, Vol.15 (1), p.e0221914-e0221914
Main Authors: Devlin, L A, Ramsbottom, S A, Overman, L M, Lisgo, S N, Clowry, G, Molinari, E, Powell, L, Miles, C G, Sayer, J A
Format: Article
Language:English
Subjects:
Amino acids
Animals
Biology and Life Sciences
Brain
Cerebellum
Cilia - genetics
Cilia - pathology
Ciliopathies - genetics
Ciliopathies - pathology
Consent
Developmental biology
Disease Models, Animal
EDTA
Embryos
Ethics
Fetus - metabolism
Gene expression
Gene Expression Regulation, Developmental - genetics
Genetic aspects
Genetic disorders
Genotype & phenotype
Human performance
Humans
Immunohistochemistry
Kidney - metabolism
Kidney - pathology
Kidney diseases
Kidney Diseases, Cystic - genetics
Kidney Diseases, Cystic - pathology
Kidneys
Kinases
Laboratory animals
Medical research
Medicine
Medicine and Health Sciences
Mice
Microtubule Proteins - genetics
Mutation
Nephronophthisis
Organs
Phenotypes
Phosphorylation
Proteins
Research and Analysis Methods
Retina
Retina - metabolism
Retina - pathology
Social Sciences
Type 2 diabetes
Urine
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Summary:Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other clinical manifestations. Mutations in centrosomal protein 164 kDa (CEP164), also known as NPHP15, have been identified as a cause of NPHP-RC. Here we have utilised the MRC-Wellcome Trust Human Developmental Biology Resource (HDBR) to perform immunohistochemistry studies on human embryonic and foetal tissues to determine the expression patterns of CEP164 during development. Notably expression is widespread, yet defined, in multiple organs including the kidney, retina and cerebellum. Murine studies demonstrated an almost identical Cep164 expression pattern. Taken together, these data support a conserved role for CEP164 throughout the development of numerous organs, which, we suggest, accounts for the multi-system disease phenotype of CEP164-mediated NPHP-RC.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0221914