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Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function
Developmental Dynamics ( IF 2.5 ) Pub Date : 2020-09-16 , DOI: 10.1002/dvdy.252
Casey D Gailey 1 , Eric J Wang 1 , Li Jin 2 , Sean Ahmadi 1 , David L Brautigan 3, 4 , Xudong Li 2 , Wenhao Xu 3 , Michael M Scott 1 , Zheng Fu 1, 4
Affiliation  

Kinesin family member 3A (KIF3A) is a molecular motor protein in the heterotrimeric kinesin‐2 complex that drives anterograde intraflagellar transport. This process plays a pivotal role in both biogenesis and maintenance of the primary cilium that supports tissue development. Ciliogenesis associated kinase 1 (CILK1) phosphorylates human KIF3A at Thr672. CILK1 loss of function causes ciliopathies that manifest profound and multiplex developmental defects, including hydrocephalus, polydactyly, shortened and hypoplastic bones and alveoli airspace deficiency, leading to perinatal lethality. Prior studies have raised the hypothesis that CILK1 phosphorylation of KIF3A is critical for its regulation of organ development.

中文翻译:

驱动蛋白家族成员 3A 中的磷酸盐 T674A 突变无法复制 CILK1 功能丧失的组织和纤毛缺陷特征

驱动蛋白家族成员 3A (KIF3A) 是异源三聚驱动蛋白-2 复合物中的分子马达蛋白,可驱动顺行鞭毛内运输。这个过程在支持组织发育的初级纤毛的生物发生和维持中起着关键作用。纤毛发生相关激酶 1 (CILK1) 在 Thr672 磷酸化人 KIF3A。CILK1 功能丧失导致纤毛病表现出严重的和多发性发育缺陷,包括脑积水、多指畸形、骨骼缩短和发育不全以及肺泡空间不足,从而导致围产期死亡。先前的研究提出了这样的假设,即 KIF3A 的 CILK1 磷酸化对其器官发育的调节至关重要。
更新日期:2020-09-16
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