《生命科学》 2024, 36(6): 749-758

Tectonic蛋白家族的分子功能与相关疾病的研究进展

蒋　林 , 郁慧敏 , 徐　闯 , 李　亚 , 王　亮^*

江苏师范大学生命学学院，徐州 221116

摘　要：

Tectonic (TCTN)，源于古希腊语，意为构造，表明该蛋白对细胞功能的重要构建作用。在人类和纤毛研究的模式生物中，该家族蛋白成员一般有1~3 个。TCTN 蛋白家族定位在细胞纤毛的基部过渡区，构建了纤毛基部“门”结构，负责胞质与纤毛间的物质分选，调控纤毛功能。此外，其还可通过调控Hedgehog 信号通路和细胞周期等，介导细胞发育。TCTN 家族基因突变常导致纤毛病发生，并且异常表达与癌症的进展相关，可作为肿瘤治疗的潜在靶标。本文主要对TCTN 蛋白家族的分子功能和相关疾病进行分析与总结，为理解、预防、治疗TCTN 突变导致的纤毛病和相关肿瘤提供理论参考及指导。

通讯作者：王　亮 , Email:wangliang@jsnu.edu.cn

Molecular function and related disease of the Tectonic protein family

JIANG Lin , YU Hui-Min , XU Chuang , LI Ya , WANG Liang^*

School of Life Sciences, Jiangsu Normal University, Xuzhou 221116, China

Abstract:

Tectonic (TCTN), derived from ancient Greek, means construction, indicating its important role in
constructing cellular function. There are generally 1~3 protein members of this family in the model organisms for ciliary research including human. The TCTN protein family is located at the ciliary base called the transition zone, constructing a ciliary gate responsible for components sorting between the cytoplasm and cilia, and regulating the ciliary functions. In addition, cellular development could also be regulated by TCTN proteins via the Hedgehog signaling pathway and cell cycle. Mutations in TCTN family genes often lead to ciliopathies, and abnormal expression of TCTN is associated with the progression of cancer, making it a potential target for tumor  treatment. In this review, we discuss and summarize the molecular functions and related diseases of the TCTN family, providing theoretical reference and guidance for understanding, preventing, and treating ciliopathies and related tumors caused by TCTN mutations.

Communication Author：WANG Liang , Email:wangliang@jsnu.edu.cn