Hartmann Britta, Valcárcel Juan
Centre de Regulació Genómica, Dr. Aiguader 88, 08003 Barcelona, Spain; Universitat Pompeu Fabra, Dr. Aiguader 88, 08003 Barcelona, Spain.
Curr Opin Cell Biol. 2009 Jun;21(3):377-86. doi: 10.1016/j.ceb.2009.02.006. Epub 2009 Mar 21.
Alternative splicing of messenger RNA (mRNA) precursors affects the majority of human genes, has a considerable impact on eukaryotic gene function and offers distinct opportunities for regulation. Alterations in alternative splicing can cause or modify the progression of a significant number of pathologies. Recent high-throughput technologies have uncovered a wealth of transcript diversity generated by alternative splicing, as well as examples for how this diversity can be established and become misregulated. A variety of mechanisms modulate splice site choice coordinately with other cellular processes, from transcription and mRNA editing or decay to miRNA-based regulation and telomerase function. Alternative splicing studies can contribute to our understanding of multiple biological processes, including genetic diversity, speciation, cell/stem cell differentiation, nervous system function, neuromuscular disorders and tumour progression.
信使核糖核酸(mRNA)前体的可变剪接影响着大多数人类基因,对真核基因功能有相当大的影响,并提供了独特的调控机会。可变剪接的改变可导致或改变大量病理过程的进展。最近的高通量技术揭示了由可变剪接产生的丰富转录本多样性,以及这种多样性如何得以建立和出现调控异常的实例。多种机制与其他细胞过程协同调节剪接位点的选择,这些细胞过程包括转录、mRNA编辑或降解、基于微小RNA(miRNA)的调控以及端粒酶功能。可变剪接研究有助于我们理解多种生物学过程,包括遗传多样性、物种形成、细胞/干细胞分化、神经系统功能、神经肌肉疾病以及肿瘤进展。