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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| description | 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. |
| doi_str_mv | 10.1371/journal.pone.0221914 |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0221914</identifier><identifier>PMID: 31990917</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>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</subject><ispartof>PloS one, 2020-01, Vol.15 (1), p.e0221914-e0221914</ispartof><rights>COPYRIGHT 2020 Public Library of Science</rights><rights>2020 Devlin et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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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. 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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. 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| 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 |
| title | Embryonic and foetal expression patterns of the ciliopathy gene CEP164 |
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