Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
BMC Dev Biol
; 20(1): 26, 2020 12 09.
Article
em En
| MEDLINE
| ID: mdl-33297941
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Regulação da Expressão Gênica no Desenvolvimento
/
Proteínas de Ciclo Celular
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Fatores de Ribosilação do ADP
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Ciliopatias
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article