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Implications of Poly(A) Tail Processing in Repeat Expansion Diseases
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-n...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8870147/ https://www.ncbi.nlm.nih.gov/pubmed/35203324 http://dx.doi.org/10.3390/cells11040677 |
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author | Joachimiak, Paweł Ciesiołka, Adam Figura, Grzegorz Fiszer, Agnieszka |
author_facet | Joachimiak, Paweł Ciesiołka, Adam Figura, Grzegorz Fiszer, Agnieszka |
author_sort | Joachimiak, Paweł |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8870147 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-88701472022-02-25 Implications of Poly(A) Tail Processing in Repeat Expansion Diseases Joachimiak, Paweł Ciesiołka, Adam Figura, Grzegorz Fiszer, Agnieszka Cells Review 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. MDPI 2022-02-15 /pmc/articles/PMC8870147/ /pubmed/35203324 http://dx.doi.org/10.3390/cells11040677 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Joachimiak, Paweł Ciesiołka, Adam Figura, Grzegorz Fiszer, Agnieszka Implications of Poly(A) Tail Processing in Repeat Expansion Diseases |
title | Implications of Poly(A) Tail Processing in Repeat Expansion Diseases |
title_full | Implications of Poly(A) Tail Processing in Repeat Expansion Diseases |
title_fullStr | Implications of Poly(A) Tail Processing in Repeat Expansion Diseases |
title_full_unstemmed | Implications of Poly(A) Tail Processing in Repeat Expansion Diseases |
title_short | Implications of Poly(A) Tail Processing in Repeat Expansion Diseases |
title_sort | implications of poly(a) tail processing in repeat expansion diseases |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8870147/ https://www.ncbi.nlm.nih.gov/pubmed/35203324 http://dx.doi.org/10.3390/cells11040677 |
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