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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-02-01
|
| Series: | Cells |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4409/11/4/677 |
| _version_ | 1797481821294821376 |
|---|---|
| author | Paweł Joachimiak Adam Ciesiołka Grzegorz Figura Agnieszka Fiszer |
| author_facet | Paweł Joachimiak Adam Ciesiołka Grzegorz Figura Agnieszka Fiszer |
| author_sort | Paweł Joachimiak |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T22:20:00Z |
| format | Article |
| id | doaj.art-4193a33d2ebe41c09632290e19a5b0fc |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-09T22:20:00Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-4193a33d2ebe41c09632290e19a5b0fc2023-11-23T19:15:09ZengMDPI AGCells2073-44092022-02-0111467710.3390/cells11040677Implications of Poly(A) Tail Processing in Repeat Expansion DiseasesPaweł Joachimiak0Adam Ciesiołka1Grzegorz Figura2Agnieszka Fiszer3Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznań, PolandDepartment of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznań, PolandDepartment of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznań, PolandDepartment of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznań, PolandRepeat 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.https://www.mdpi.com/2073-4409/11/4/677alternative polyadenylationrepeat expansion diseasespolyglutamine diseasesHuntington’s diseasepoly(A) tail |
| spellingShingle | Paweł Joachimiak Adam Ciesiołka Grzegorz Figura Agnieszka Fiszer Implications of Poly(A) Tail Processing in Repeat Expansion Diseases Cells alternative polyadenylation repeat expansion diseases polyglutamine diseases Huntington’s disease poly(A) tail |
| 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 | alternative polyadenylation repeat expansion diseases polyglutamine diseases Huntington’s disease poly(A) tail |
| url | https://www.mdpi.com/2073-4409/11/4/677 |
| work_keys_str_mv | AT pawełjoachimiak implicationsofpolyatailprocessinginrepeatexpansiondiseases AT adamciesiołka implicationsofpolyatailprocessinginrepeatexpansiondiseases AT grzegorzfigura implicationsofpolyatailprocessinginrepeatexpansiondiseases AT agnieszkafiszer implicationsofpolyatailprocessinginrepeatexpansiondiseases |