Kornblihtt Alberto R
Laboratorio de Fisiologia y Biologia Molecular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Pabellon 2, 2 piso, C1428EHA Buenos Aires, Argentina.
Curr Opin Cell Biol. 2005 Jun;17(3):262-8. doi: 10.1016/j.ceb.2005.04.014.
Recent findings justify a renewed interest in alternative splicing (AS): the process is more a rule than an exception as it affects the expression of 60% of human genes; it explains how a vast mammalian proteomic complexity is achieved with a limited number of genes; and mutations in AS regulatory sequences are a widespread source of human disease. AS regulation not only depends on the interaction of splicing factors with their target sequences in the pre-mRNA but is coupled to transcription. A clearer picture is emerging of the mechanisms by which transcription affects AS through promoter identity and occupation. These mechanisms involve the recruitment of factors with dual functions in transcription and splicing (i.e. that contain both functional domains and hence link the two processes) and the control of RNA polymerase II elongation.
最近的研究结果表明，有必要重新关注可变剪接（AS）：这一过程更多地是一种规律而非例外，因为它影响着60%的人类基因的表达；它解释了如何用有限数量的基因实现巨大的哺乳动物蛋白质组复杂性；并且AS调控序列中的突变是人类疾病的广泛来源。AS调控不仅取决于剪接因子与其在前体mRNA中的靶序列的相互作用，还与转录相关联。关于转录通过启动子特性和占据情况影响AS的机制，正逐渐浮现出更清晰的图景。这些机制涉及募集在转录和剪接中具有双重功能的因子（即同时包含功能结构域，从而将这两个过程联系起来）以及对RNA聚合酶II延伸的控制。
