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Alternative splicing in the regulation of cholesterol homeostasis

机译：替代剪接调节胆固醇稳态

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PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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. SUMMARY: Alternative splicing is of importance in various types of genetically influenced dyslipidemias and in the regulation of cellular cholesterol metabolism. ? 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins.
机译：审查的目的：随着全转录组测序或RNA序列的出现，我们现在知道替代剪接是一种普遍现象，几乎所有多外显子基因都经历了替代剪接。在这篇综述中，我们重点介绍了最近的研究，研究了替代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。最近的发现：已知许多参与胆固醇代谢的关键基因都进行了功能相关的选择性剪接。最近，我们已经确定了响应细胞固醇含量变化的多个基因的可变剪接中的协同变化。我们和其他人牵涉到一些剪接因子作为脂质代谢的调节剂。此外，调节多种选择性剪接的许多顺式作用人类基因变体已涉及多种人类代谢疾病。摘要：在各种类型的遗传影响的血脂异常和细胞胆固醇代谢的调节中，替代剪接很重要。 ？ 2013威科集团健康|利平科特·威廉姆斯和威尔金斯。

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