The Joubert Syndrome Gene arl13b is Critical for Early Cerebellar Development in Zebrafish
The Joubert Syndrome Gene arl13b is Critical for Early Cerebellar Development in Zebrafish
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朱伯特综合征基因 arl13b 对斑马鱼早期小脑发育至关重要
DOI：
10.1007/s12264-020-00554-y
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发表时间：
2020-08
影响因子：
5.6
通讯作者：
Xu Hong A.
中科院分区：
文献类型：
--
作者：
Zhu Jian;Wang Han-Tsing;Chen Yu-Rong;Yan Ling-Ya;Han Ying-Ying;Liu Ling-Yan;Cao Ying;Liu Zhi-Zhi;Xu Hong A.
Joubert综合征的特征是小脑蠕虫的独特畸形。目前已鉴定出30多个Joubert综合征基因，其中包括ARL13B。然而，它在小脑发育中的作用仍未被探索。我们发现AR113基因的敲除或敲除会损害斑马鱼幼体的平衡和运动。小脑体中的颗粒细胞被选择性地减少，这是一种与哺乳动物蚯蚓同源的结构。浦肯野细胞前体细胞也被选择性地干扰在背侧。颗粒细胞和浦肯野细胞的原神经基因toh1和ptf1分别在小脑中线背侧选择性下调。此外，在小脑发育早期瞬时表达的wnt1被选择性地减少。有趣的是，激活Wnt信号部分挽救了13bb突变体的颗粒细胞缺陷。提示Arl13b对于小脑颗粒和浦肯野细胞的早期发育是必需的。缺失Tear13b的斑马鱼可以作为研究Joubert综合征的模式生物。
Joubert syndrome is characterized by unique malformation of the cerebellar vermis. More than thirty Joubert syndrome genes have been identified, includingARL13B. However, its role in cerebellar development remains unexplored. We found that knockdown or knockout ofarl13bimpaired balance and locomotion in zebrafish larvae. Granule cells were selectively reduced in the corpus cerebelli, a structure homologous to the mammalian vermis. Purkinje cell progenitors were also selectively disturbed dorsomedially. The expression ofatoh1andptf1, proneural genes of granule and Purkinje cells, respectively, were selectively down-regulated along the dorsal midline of the cerebellum. Moreover,wnt1, which is transiently expressed early in cerebellar development, was selectively reduced. Intriguingly, activating Wnt signaling partially rescued the granule cell defects inarl13bmutants. These findings suggested that Arl13b is necessary for the early development of cerebellar granule and Purkinje cells. Thearl13b-deficient zebrafish can serve as a model organism for studying Joubert syndrome.
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DOI：
10.1016/j.mcn.2011.11.008
发表时间：
2012-02
期刊：
Molecular and cellular neurosciences
影响因子：
--
作者：
Hagan N;Zervas M
通讯作者：
Zervas M
DOI：
10.1016/j.gep.2018.07.002
发表时间：
2018-09
期刊：
Gene expression patterns : GEP
影响因子：
--
作者：
Song P;Perkins BD
通讯作者：
Perkins BD
影响因子：
2.7
作者：
Kani, Shuichi;Bae, Young-Ki;Hibi, Masahiko
通讯作者：
Hibi, Masahiko
影响因子：
5.1
作者：
Haiwei Xu;Yang Yang-Yang;Xiaotong Tang;Meina Zhao;Fucheng Liang;P. Xu;Baoke Hou;Y. Xing;Xiaohang Bao;Xiaotang Fan
通讯作者：
Haiwei Xu;Yang Yang-Yang;Xiaotong Tang;Meina Zhao;Fucheng Liang;P. Xu;Baoke Hou;Y. Xing;Xiaohang Bao;Xiaotang Fan
影响因子：
48
作者：
Romani, Marta;Micalizzi, Alessia;Valente, Enza Maria
通讯作者：
Valente, Enza Maria