Implications of Poly(A) Tail Processing in Repeat Expansion Diseases

Cells

卷:11

Grzegorz Figura¹  Paweł Joachimiak¹  Agnieszka Fiszer¹  Adam Ciesiołka¹ 

[1] Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznań, Poland;

关键词: alternative polyadenylation;    repeat expansion diseases;    polyglutamine diseases;    Huntington’s disease;    poly(A) tail;   

DOI  :  10.3390/cells11040677

来源: DOAJ

【 摘 要 】

Repeat expansion diseases are a group of more than 40 disorders that affect mainly the nervous and/or muscular system and include myotonic dystrophies, Huntington’s disease, and fragile X syndrome. The mutation-driven expanded repeat tract occurs in specific genes and is composed of tri- to dodeca-nucleotide-long units. Mutant mRNA is a pathogenic factor or important contributor to the disease and has great potential as a therapeutic target. Although repeat expansion diseases are quite well known, there are limited studies concerning polyadenylation events for implicated transcripts that could have profound effects on transcript stability, localization, and translation efficiency. In this review, we briefly present polyadenylation and alternative polyadenylation (APA) mechanisms and discuss their role in the pathogenesis of selected diseases. We also discuss several methods for poly(A) tail measurement (both transcript-specific and transcriptome-wide analyses) and APA site identification—the further development and use of which may contribute to a better understanding of the correlation between APA events and repeat expansion diseases. Finally, we point out some future perspectives on the research into repeat expansion diseases, as well as APA studies.

【 授权许可】

Unknown