Out of balance: R-loops in human disease.
R-loops are cellular structures composed of an RNA/DNA hybrid, which is formed when the RNA hybridises to a complementary DNA strand and a displaced single-stranded DNA. R-loops have been detected in various organisms from bacteria to mammals and play crucial roles in regulating gene expression, DNA...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2014-09-01
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| Series: | PLoS Genetics |
| Online Access: | https://doi.org/10.1371/journal.pgen.1004630 |
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| _version_ | 1850161706325508096 |
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| author | Matthias Groh Natalia Gromak |
| author_facet | Matthias Groh Natalia Gromak |
| author_sort | Matthias Groh |
| collection | DOAJ |
| description | R-loops are cellular structures composed of an RNA/DNA hybrid, which is formed when the RNA hybridises to a complementary DNA strand and a displaced single-stranded DNA. R-loops have been detected in various organisms from bacteria to mammals and play crucial roles in regulating gene expression, DNA and histone modifications, immunoglobulin class switch recombination, DNA replication, and genome stability. Recent evidence suggests that R-loops are also involved in molecular mechanisms of neurological diseases and cancer. In addition, mutations in factors implicated in R-loop biology, such as RNase H and SETX (senataxin), lead to devastating human neurodegenerative disorders, highlighting the importance of correctly regulating the level of R-loops in human cells. In this review we summarise current advances in this field, with a particular focus on diseases associated with dysregulation of R-loop structures. We also discuss potential therapeutic approaches for such diseases and highlight future research directions. |
| format | Article |
| id | doaj-art-71a948c3f07441f0be2faa9e418f5384 |
| institution | OA Journals |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2014-09-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-71a948c3f07441f0be2faa9e418f53842025-08-20T02:22:45ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042014-09-01109e100463010.1371/journal.pgen.1004630Out of balance: R-loops in human disease.Matthias GrohNatalia GromakR-loops are cellular structures composed of an RNA/DNA hybrid, which is formed when the RNA hybridises to a complementary DNA strand and a displaced single-stranded DNA. R-loops have been detected in various organisms from bacteria to mammals and play crucial roles in regulating gene expression, DNA and histone modifications, immunoglobulin class switch recombination, DNA replication, and genome stability. Recent evidence suggests that R-loops are also involved in molecular mechanisms of neurological diseases and cancer. In addition, mutations in factors implicated in R-loop biology, such as RNase H and SETX (senataxin), lead to devastating human neurodegenerative disorders, highlighting the importance of correctly regulating the level of R-loops in human cells. In this review we summarise current advances in this field, with a particular focus on diseases associated with dysregulation of R-loop structures. We also discuss potential therapeutic approaches for such diseases and highlight future research directions.https://doi.org/10.1371/journal.pgen.1004630 |
| spellingShingle | Matthias Groh Natalia Gromak Out of balance: R-loops in human disease. PLoS Genetics |
| title | Out of balance: R-loops in human disease. |
| title_full | Out of balance: R-loops in human disease. |
| title_fullStr | Out of balance: R-loops in human disease. |
| title_full_unstemmed | Out of balance: R-loops in human disease. |
| title_short | Out of balance: R-loops in human disease. |
| title_sort | out of balance r loops in human disease |
| url | https://doi.org/10.1371/journal.pgen.1004630 |
| work_keys_str_mv | AT matthiasgroh outofbalancerloopsinhumandisease AT nataliagromak outofbalancerloopsinhumandisease |