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RBPMS和RBPMS2合作保护心脏分裂

Tongbin Wu¹, Zeyu Chen², Chao Gao¹

¹Department of Biological Sciences and Translational Medicine, Masonic Medical Research Institute, Utica, NY (T.W., C.G., E.V.S.).

Circulation research

|August 27, 2025

概括

多重拼接的RNA结合蛋白 (RBPMS) 和RBPMS2对于心脏发育至关重要. 它们的联合作用确保了心脏基因的正确拼接,防止胚胎死亡和肉瘤缺陷.

科学领域:

心血管生物学
分子遗传学
基因调控

背景情况:

心脏拼接因子 (SF) 的突变导致心肌病和先天性心脏病.
心脏SFs协同调节重要的心脏基因拼接,但这种协作的功能重要性尚不清楚.
RBPMS和RBPMS2是参与心脏发育的SF,具有相似的体外拼接活动,但它们的体外合作是未知的.

研究的目的:

研究RBPMS和RBPMS2在心脏发育中的协作.
确定心肌细胞中RBPMS和RBPMS2损失的功能后果.
阐明它们协作拼接调节的分子机制.

主要方法:

为RBPMS和RBPMS2生成和分析心肌细胞特异单双淘汰的小鼠.
进行RNA测序以评估基因表达和拼接变化.
用于分析和小基因拼接测试来剖析调节机制.

主要成果:

缺少RBPMS和RBPMS2的双淘汰小鼠在胚胎第13.5天之前死亡,并出现了瘤性疾病.
单个淘汰的小鼠存活到成年时具有正常的瘤组合,表明重叠的功能.
由于心脏收缩基因的广泛错误拼接导致了双重淘汰的缺陷瘤组合.
RBPMS和RBPMS2共同促进心脏拼接并抑制非心脏拼接,结合位置决定了它们作为激活剂或抑制剂的作用.

结论:

RBPMS 和 RBPMS2 协作维持对心脏收缩至关重要的基因的拼接.
为了保持心脏拼接特征,
了解SF合作对于开发针对SF活动的治疗策略至关重要.

关键词:

核糖核酸拼接核酸组合因子心肌病,扩大肌细胞,心脏其他类型

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