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Lookup NU author(s): Laura Powell, Miguel Barroso Gil, Dr Gavin ClowryORCiD, Laura Devlin, Dr Elisa MolinariORCiD, Dr Simon RamsbottomORCiD, Dr Colin Miles, Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2020, The Author(s).Background: Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120. Methods: We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource. Results: Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes. Conclusions: This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.
Author(s): Powell L, Barroso-Gil M, Clowry GJ, Devlin LA, Molinari E, Ramsbottom SA, Miles CG, Sayer JA
Publication type: Article
Publication status: Published
Journal: BMC Developmental Biology
Year: 2020
Volume: 20
Issue: 1
Online publication date: 09/12/2020
Acceptance date: 11/11/2020
Date deposited: 18/01/2021
ISSN (electronic): 1471-213X
Publisher: BioMed Central Ltd
URL: https://doi.org/10.1186/s12861-020-00231-3
DOI: 10.1186/s12861-020-00231-3
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