Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development

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. We sought to explore the developmental exp...

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Bibliographic Details
Published in:BMC developmental biology 2020-12, Vol.20 (1), p.26-26, Article 26
Main Authors: Powell, L, Barroso-Gil, M, Clowry, G J, Devlin, L A, Molinari, E, Ramsbottom, S A, Miles, C G, Sayer, J A
Format: Article
Language:English
Subjects:
ADP-Ribosylation Factors - genetics
ADP-Ribosylation Factors - metabolism
Brain
Brain - growth & development
Brain - metabolism
Cell cycle
Cell Cycle Proteins - genetics
Cell Cycle Proteins - metabolism
Cell division
Cell growth
Cerebellum
Ciliopathies - genetics
Ciliopathies - pathology
Ciliopathies - physiopathology
Congenital defects
Cysts
Developmental biology
Embryos
Ganglia, Spinal - growth & development
Ganglia, Spinal - metabolism
Gene Expression Regulation, Developmental
Genes
Genotype & phenotype
Humans
Jeune syndrome
Kidney - growth & development
Kidney - metabolism
Mutation
Neurodevelopmental disorders
Phenotype
Phenotypes
Photoreceptors
Proteins
Retina
Retina - growth & development
Retina - metabolism
Ribonucleic acid
RNA
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Summary: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. 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. 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. This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.
ISSN:1471-213X
1471-213X
DOI:10.1186/s12861-020-00231-3