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Embryonic and foetal expression patterns of the ciliopathy gene CEP164

Lookup NU author(s): Laura Devlin, Dr Simon RamsbottomORCiD, Lynne Overman, Dr Steven LisgoORCiD, Dr Gavin ClowryORCiD, Dr Elisa MolinariORCiD, Laura Powell, Dr Colin Miles, Professor John SayerORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2020 Devlin et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.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.

Publication metadata

Author(s): Devlin LA, Ramsbottom SA, Overman LM, Lisgo SN, Clowry G, Molinari E, Powell L, Miles CG, Sayer JA

Publication type: Article

Publication status: Published

Journal: PLoS ONE

Year: 2020

Volume: 15

Issue: 1

Online publication date: 28/01/2020

Acceptance date: 03/01/2020

Date deposited: 10/02/2020

ISSN (electronic): 1932-6203

Publisher: Public Library of Science


DOI: 10.1371/journal.pone.0221914

PubMed id: 31990917


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