Embryonic and foetal expression patterns of the ciliopathy gene CEP164.

Autor: Devlin LA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Ramsbottom SA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Overman LM; MRC-Wellcome Trust Human Developmental Biology Resource, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, England, United Kingdom., Lisgo SN; MRC-Wellcome Trust Human Developmental Biology Resource, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, England, United Kingdom., Clowry G; Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, England, United Kingdom., Molinari E; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Powell L; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Miles CG; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Sayer JA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom.; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle upon Tyne, England, United Kingdom.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, England, United Kingdom.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2020 Jan 28; Vol. 15 (1), pp. e0221914. Date of Electronic Publication: 2020 Jan 28 (Print Publication: 2020).
DOI: 10.1371/journal.pone.0221914
Abstrakt: 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.
Competing Interests: The authors have declared that no competing interests exist.
Databáze: MEDLINE
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