Document Detail


Alternative splicing in the regulation of cholesterol homeostasis.
MedLine Citation:
PMID:  23314925     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Marisa W Medina; Ronald M Krauss
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Current opinion in lipidology     Volume:  24     ISSN:  1473-6535     ISO Abbreviation:  Curr. Opin. Lipidol.     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-13     Completed Date:  2013-09-27     Revised Date:  2014-04-29    
Medline Journal Info:
Nlm Unique ID:  9010000     Medline TA:  Curr Opin Lipidol     Country:  England    
Other Details:
Languages:  eng     Pagination:  147-52     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Alternative Splicing*
Animals
Cholesterol / blood*,  metabolism
Dyslipidemias / metabolism,  pathology
Gene Expression Regulation
Heterogeneous-Nuclear Ribonucleoproteins / genetics,  metabolism
Homeostasis*
Humans
Lipid Metabolism
Mutation
Polypyrimidine Tract-Binding Protein / genetics,  metabolism
RNA Stability
RNA, Messenger / genetics,  metabolism
Grant Support
ID/Acronym/Agency:
P30 DK026743/DK/NIDDK NIH HHS; R01 HL104133/HL/NHLBI NIH HHS; R01 HL104133-01/HL/NHLBI NIH HHS; U19 HL069757/HL/NHLBI NIH HHS; U19 HL69757/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Heterogeneous-Nuclear Ribonucleoproteins; 0/PTBP1 protein, human; 0/RNA, Messenger; 139076-35-0/Polypyrimidine Tract-Binding Protein; 97C5T2UQ7J/Cholesterol
Comments/Corrections

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