Licatalosi Donny D, Darnell Robert B
Howard Hughes Medical Institute, Laboratory of Molecular Neuro-Oncology, The Rockefeller University, New York, New York 10021, USA.
Neuron. 2006 Oct 5;52(1):93-101. doi: 10.1016/j.neuron.2006.09.017.
The importance of alternative splicing in the regulation of diverse biological processes is reflected in the growing list of human diseases associated with known or suspected splicing defects. It is becoming evident that alternative splicing plays a particularly important role in neurologic disease, which is perhaps not surprising given the important role splicing plays in generating complexity and function in the brain. This review considers the evidence that defects in regulation of splicing may underlie many types of human neurologic diseases.
可变剪接在调节多种生物学过程中的重要性体现在与已知或疑似剪接缺陷相关的人类疾病清单不断增加。越来越明显的是,可变剪接在神经疾病中起着特别重要的作用,鉴于剪接在大脑中产生复杂性和功能方面所起的重要作用,这或许并不令人惊讶。本文综述了剪接调控缺陷可能是多种人类神经疾病基础的证据。