Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Biosciences Institute, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
BMC Dev Biol. 2020 Dec 9;20(1):26. doi: 10.1186/s12861-020-00231-3.
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.
杰伯综合征及相关疾病（JSRD）和 Jeune 综合征是具有重叠表型的多系统纤毛病。这些罕见综合征有越来越多的遗传原因，包括最近描述的 ARL3 和 CEP120 基因。
我们试图探索 ARL3 和 CEP120 在人类中的发育表达模式，以更深入地了解这些遗传状况。我们与 MRC-Wellcome Trust Human Developmental Biology Resource 合作，使用一种称为 RNAscope 的 RNA 原位检测技术来描述 ARL3 和 CEP120 在人类胚胎和胎儿中的表达模式。
ARL3 和 CEP120 在早期人类大脑发育中表达，包括小脑以及发育中的视网膜和肾脏，这与这些基因的致病性变异所见的临床表型一致。
这项研究通过揭示两个 JSRD 致病基因在正常人类发育过程中的空间表达，为 JSRD 的潜在发病机制提供了新的见解。
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