《生命科学》 2023, 35(4): 546-556

TULP家族成员的生物学功能及相关疾病的致病机制

翁子睿^1,2,3 , 徐文华^1,3 , 郑　英^1,3,*

¹扬州大学医学院组织学与胚胎学教研室，扬州 225009 ²扬州大学医学院临床医学系， 扬州 225009 ³江苏省非编码RNA基础与临床转化重点实验室，扬州 225009

摘　要：

哺乳动物TULP 家族成员包含TUB、TULP1、TULP2、TULP3 和TULP4 共五种，它们在哺乳动物多种组织中表达，与个体的生长发育、稳态维系、遗传及基因突变所致疾病关系密切。近年来对TULP家族成员的生物学功能及其与疾病的相关性已进行了深入的研究，如TUB 所致肥胖- 听力减退- 视网膜三联征；TULP1 的视觉功能与相关眼病治疗方法的探索及评估改进；TULP3 除了在胚胎神经发育中的作用及其突变可致纤毛病多囊肾外，更成为相关肿瘤调控的研究热点；TULP4 被证明与遗传所致畸形及阿尔茨海默症有关，同时因成为多种疾病的候选基因而受到广泛关注；而TULP2 在雄性生殖中的作用也得到了初步的揭示。本文对TULP 家族成员在哺乳动物中的生物学功能及其变异所致疾病的发病机制进行了综述，以期为相关疾病的诊断和治疗提供理论依据。

通讯作者：郑　英 , Email:yzzkl@163.com

Biological functions of the TULP family members and pathogenetic mechanism of their associated diseases

WENG Zi-Rui^1,2,3 , XU Wen-Hua^1,3 , ZHENG Ying^1,3,*

¹Department of Histology and Embryology, School of Medicine, Yangzhou University, Yangzhou 225009, China ²Department of Clinical Medicine, School of Medicine, Yangzhou University, Yangzhou 225009, China ³Jiangsu Key Laboratory of Experimental & Translational Non-coding RNA Research, Yangzhou 225009, China

Abstract:

Mammalian Tubby-like protein family members (TULPs) include TUB, TULP1, TULP2, TULP3 and
TULP4. They have various and abundant expression in many tissues and are closely related to individual growth and development, homeostasis maintenance, inheritance and diseases caused by gene mutations. In recent years, the biological functions of TULPs and the correlation with diseases have been deeply investigated, such as obesity hearing-loss retinal triad caused by TUB, the exploration and evaluation of the visual function of TULP1 and the treatment of related eye diseases. In addition to the role in embryonic neural development and the relationship with fibrotic polycystic kidney disease, TULP3 has become a research hotspot of tumorigenesis. TULP4 has been proved to be related to genetic malformations and Alzheimer's disease. At the same time, it has also attracted extensive attention as a candidate gene for a variety of diseases. The role of TULP2 in male reproduction has also been preliminarily revealed. In this review, we summarize the biological functions and pathogenetic mechanisms of TULPs mutant diseases, thereby providing a theoretical basis and new insights for the diagnosis and treatment of TULPs related diseases.

Communication Author：ZHENG Ying , Email:yzzkl@163.com