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Embryonic and foetal expression patterns of the ciliopathy gene CEP164
- Source :
- PLoS ONE, PLoS ONE, Vol 15, Iss 1, p e0221914 (2020)
- Publication Year :
- 2020
- Publisher :
- Public Library of Science (PLoS), 2020.
-
Abstract
- 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.
- Subjects :
- Photoreceptors
0301 basic medicine
Sensory Receptors
Social Sciences
Kidney
Ciliopathies
Epithelium
Beta-Galactosidase Assay
Mice
0302 clinical medicine
Animal Cells
Cerebellum
Medicine and Health Sciences
Psychology
Neurons
Cerebral Cortex
Regulation of gene expression
Multidisciplinary
Cilium
Brain
Gene Expression Regulation, Developmental
Kidney Diseases, Cystic
Cell biology
Bioassays and Physiological Analysis
Microtubule Proteins
Medicine
Sensory Perception
Anatomy
Cellular Structures and Organelles
Cellular Types
Research Article
Signal Transduction
Science
Ocular Anatomy
Biology
Research and Analysis Methods
Retina
03 medical and health sciences
Cystic kidney disease
Fetus
Ocular System
CEP164
medicine
Animals
Humans
Cilia
Enzyme Assays
Biology and Life Sciences
Afferent Neurons
Kidney metabolism
Kidneys
Renal System
Cell Biology
medicine.disease
Disease Models, Animal
Ciliopathy
Biological Tissue
030104 developmental biology
Cellular Neuroscience
Choroid Plexus
Biochemical Analysis
Developmental biology
030217 neurology & neurosurgery
Neuroscience
Subjects
Details
- ISSN :
- 19326203
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- PLOS ONE
- Accession number :
- edsair.doi.dedup.....815b03a2bc9cfaf70fba668e6de84aa8