Zou Fei, Liu Mingsheng, Sui Yutong, Liu Jinyu
Department of Toxicology, School of Public Health, Jilin University, Changchun, China.
Department of Pediatrics, First Hospital of Jilin University, Jilin University, Changchun, China.
Front Mol Biosci. 2023 Mar 17;10:1106370. doi: 10.3389/fmolb.2023.1106370. eCollection 2023.
Pre-B-cell leukemia homeobox transcription factor 1 (PBX1) is a member of the TALE (three-amino acid loop extension) family and functions as a homeodomain transcription factor (TF). When dimerized with other TALE proteins, it can act as a pioneer factor and provide regulatory sequences interaction with partners. In vertebrates, PBX1 is expressed during the blastula stage, and its germline variations in humans are interrelated with syndromic anomalies of the kidney, which plays an important role in hematopoiesis and immunity among vertebrates. Herein, we summarize the existing data on PBX1 functions and the impact of PBX1 on renal tumors, PBX1-deficient animal models, and blood vessels in mammalian kidneys. The data indicated that the interaction of PBX1 with different partners such as the genes is responsible for abnormal proliferation and variation of the embryonic mesenchyme, while truncating variants were shown to cause milder phenotypes (mostly cryptorchidism and deafness). Although such interactions have been identified to be the cause of many defects in mammals, some phenotypic variations are yet to be understood. Thus, further research on the TALE family is required.
前B细胞白血病同源盒转录因子1（PBX1）是三氨基酸环延伸（TALE）家族的成员，作为一种同源结构域转录因子发挥作用。当与其他TALE蛋白二聚化时，它可以作为先锋因子，与伙伴提供调控序列相互作用。在脊椎动物中，PBX1在囊胚期表达，其在人类中的种系变异与肾脏综合征异常相关，肾脏在脊椎动物的造血和免疫中起重要作用。在此，我们总结了关于PBX1功能以及PBX1对肾肿瘤、PBX1缺陷动物模型和哺乳动物肾脏血管影响的现有数据。数据表明，PBX1与不同伙伴（如基因）的相互作用导致胚胎间充质异常增殖和变异，而截短变异显示会导致较轻的表型（主要是隐睾症和耳聋）。尽管已确定这种相互作用是哺乳动物许多缺陷的原因，但一些表型变异仍有待了解。因此，需要对TALE家族进行进一步研究。
