title: Alternative splicing in the regulation of cholesterol homeostasis.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Alternative splicing is of importance in various types of genetically influenced dyslipidemias and in the regulation of cellular cholesterol metabolism.
authors: Children's Hospital Oakland Research Institute, Oakland, CA 94609, USA. mwmedina@chori.org
authors: Marisa W
authors: MW
authors: Medina
authors: Ronald M
authors: RM
authors: Krauss
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D002784:Cholesterol / Q000097:blood* / Q000378:metabolism; D050171:Dyslipidemias / Q000378:metabolism / Q000473:pathology; D005786:Gene Expression Regulation; D034441:Heterogeneous-Nuclear Ribonucleoproteins / Q000235:genetics / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D050356:Lipid Metabolism; D009154:Mutation; D038941:Polypyrimidine Tract-Binding Protein / Q000235:genetics / Q000378:metabolism; D020871:RNA Stability; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D034441:Heterogeneous-Nuclear Ribonucleoproteins; C450006:PTBP1 protein, human; D012333:RNA, Messenger; D038941:Polypyrimidine Tract-Binding Protein; D002784:Cholesterol