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Alternative splicing in the regulation of cholesterol homeostasis

Medina, Marisa W.; Krauss, Ronald M.

Current Opinion in Lipidology: April 2013 - Volume 24 - Issue 2 - p 147–152
doi: 10.1097/MOL.0b013e32835cf284

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.

Children's Hospital Oakland Research Institute, Oakland, California, USA

Correspondence to Marisa W. Medina, 5700 Martin Luther King Jr. Way, Oakland, CA 94609, USA. Tel: +1 510 450 7977; e-mail:

© 2013 Lippincott Williams & Wilkins, Inc.