生物
RNA剪接
早熟
LMNA公司
选择性拼接
遗传学
拼接因子
外显子剪接增强剂
调节器
snRNP公司
清脆的
核糖核蛋白
剪接体
计算生物学
小核核糖核蛋白
RNA结合蛋白
细胞生物学
基因
核糖核酸
内含子
基因表达调控
表型
SR蛋白
作者
Amit K. Behera,Jeongjin J. Kim,Shreya Kordale,Filip Pekovic,Arun Prasath Damodaran,Bandana Kumari,Sandra Vidak,Ethan Dickson,Mei-Sheng Xiao,Gerard Duncan,Thorkell Andresson,Tom Misteli,Eugene Valkov,Thomas Gonatopoulos-Pournatzis
出处
期刊:Molecular Cell
[Elsevier BV]
日期:2025-12-30
卷期号:86 (1): 41-59.e15
标识
DOI:10.1016/j.molcel.2025.12.003
摘要
Despite progress in understanding pre-mRNA splicing, the regulatory mechanisms controlling most alternative splicing events remain unclear. We developed CRASP-seq (CRISPR-based identification of regulators of alternative splicing with phenotypic sequencing), a method that integrates pooled CRISPR-based genetic perturbations with deep sequencing of splicing reporters, to quantitatively assess the impact of all human genes on alternative splicing from a single RNA sample. CRASP-seq identified both known and untested regulators, enriched for proteins involved in RNA splicing and metabolism. As a proof-of-concept, CRASP-seq analysis of the LMNA cryptic splicing event linked to progeria uncovered ZNF207, primarily known for mitotic spindle assembly, as a regulator of progerin splicing. ZNF207 depletion enhances canonical LMNA splicing and decreases progerin protein levels in patient-derived cells. We further show that ZNF207's zinc-finger domain broadly impacts alternative splicing through direct interactions with U1 small nuclear ribonucleoprotein (snRNP) components. These findings position ZNF207 as a U1 snRNP auxiliary factor and demonstrate the power of CRASP-seq to uncover key regulators and domains of alternative splicing.
科研通智能强力驱动
Strongly Powered by AbleSci AI