Takada Ichiro, Hidano Shinya, Nakagawa Tohru, Nakagawa Shinichi, Makishima Makoto, Takahashi Sayuri
Department of Urology, The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.
Division of Biochemistry, Department of Biomedical Sciences, School of Medicine, Nihon University, Tokyo 173-8610, Japan.
Int J Mol Sci. 2025 Apr 25;26(9):4056. doi: 10.3390/ijms26094056.
ESS2 (ess-2 splicing factor homolog, also known as DGCR14 or DGS-I) is a member of the deletion gene cluster in the 22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge syndrome or CATCH 22 syndrome). The ESS2 gene is not part of a gene family, and the coded protein has a coiled-coil structure (Es domain), which is conserved from yeast to humans. Recent studies have shown that ESS2 is involved in splicing C and C* complex, but other interactants, such as transcription factors and U1 snRNP, are also reported. Although the molecular mechanism is still under investigation, ESS2 plays a pivotal role in cell differentiation and proliferation. ESS2 knockout mice show embryonic lethal in the early stage, and recent studies show the association of ESS2 with cancer, autoimmune disease, and neurodevelopmental disorders. ESS2 can regulate mRNA splicing and transcriptional activity through interactions with other proteins, and ESS2-dependent gene expression regulation seems to be cell type-selective. In this review, we summarized the cloning history and functions of ESS2, including recent findings.
ESS2（ESS-2剪接因子同源物，也称为DGCR14或DGS-I）是22q11.2缺失综合征（22q11.2DS，也称为迪格奥尔格综合征或CATCH 22综合征）中缺失基因簇的成员。ESS2基因不属于基因家族，其编码的蛋白质具有卷曲螺旋结构（Es结构域），从酵母到人类都保守存在。最近的研究表明，ESS2参与C和C*复合物的剪接，但也有报道称其存在其他相互作用分子，如转录因子和U1 snRNP。尽管分子机制仍在研究中，但ESS2在细胞分化和增殖中起关键作用。ESS2基因敲除小鼠在早期表现出胚胎致死性，最近的研究表明ESS2与癌症、自身免疫性疾病和神经发育障碍有关。ESS2可通过与其他蛋白质相互作用来调节mRNA剪接和转录活性，并且ESS2依赖性基因表达调控似乎具有细胞类型选择性。在本综述中，我们总结了ESS2的克隆历史和功能，包括最近的研究发现。
