Children's Hospital Oakland Research Institute, Oakland, CA 94609, USA.
Curr Opin Lipidol. 2013 Apr;24(2):147-52. doi: 10.1097/MOL.0b013e32835cf284.
With the advent of whole-transcriptome sequencing, or RNA-seq, we now know that alternative splicing is a generalized phenomenon, with nearly all multiexonic genes subject to alternative splicing. In this review, we highlight recent studies examining alternative splicing as a modulator of cellular cholesterol homeostasis and as an underlying mechanism of dyslipidemia.
A number of key genes involved in cholesterol metabolism are known to undergo functionally relevant alternative splicing. Recently, we have identified coordinated changes in alternative splicing in multiple genes in response to alterations in cellular sterol content. We and others have implicated several splicing factors as regulators of lipid metabolism. Furthermore, a number of cis-acting human gene variants that modulate alternative splicing have been implicated in a variety of human metabolic diseases.
Alternative splicing is of importance in various types of genetically influenced dyslipidemias and in the regulation of cellular cholesterol metabolism.
随着全转录组测序或 RNA-seq 的出现，我们现在知道可变剪接是一种普遍现象，几乎所有多外显子基因都受到可变剪接的影响。在这篇综述中，我们强调了最近的研究，这些研究检查了可变剪接作为细胞胆固醇稳态的调节剂和血脂异常的潜在机制。
许多参与胆固醇代谢的关键基因已知会发生具有功能相关性的可变剪接。最近，我们已经确定了细胞固醇含量变化时多个基因的可变剪接的协调变化。我们和其他人已经将几种剪接因子确定为脂质代谢的调节剂。此外，一些调节可变剪接的顺式作用人类基因变异体与多种人类代谢疾病有关。
可变剪接在各种遗传性血脂异常和细胞胆固醇代谢的调节中很重要。
