POT1-TPP1 telomere length regulation and disease
Telomeres are DNA repeats at the ends of linear chromosomes and are replicated by telomerase, a ribonucleoprotein reverse transcriptase. Telomere length regulation and chromosome end capping are essential for genome stability and are mediated primarily by the shelterin and CST complexes. POT1-TPP1,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-01-01
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| Series: | Computational and Structural Biotechnology Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2001037020303299 |
| _version_ | 1818451930456784896 |
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| author | Tomas Aramburu Sarah Plucinsky Emmanuel Skordalakes |
| author_facet | Tomas Aramburu Sarah Plucinsky Emmanuel Skordalakes |
| author_sort | Tomas Aramburu |
| collection | DOAJ |
| description | Telomeres are DNA repeats at the ends of linear chromosomes and are replicated by telomerase, a ribonucleoprotein reverse transcriptase. Telomere length regulation and chromosome end capping are essential for genome stability and are mediated primarily by the shelterin and CST complexes. POT1-TPP1, a subunit of shelterin, binds the telomeric overhang, suppresses ATR-dependent DNA damage response, and recruits telomerase to telomeres for DNA replication. POT1 localization to telomeres and chromosome end protection requires its interaction with TPP1. Therefore, the POT1-TPP1 complex is critical to telomere maintenance and full telomerase processivity. The aim of this mini-review is to summarize recent POT1-TPP1 structural studies and discuss how the complex contributes to telomere length regulation. In addition, we review how disruption of POT1-TPP1 function leads to human disease. |
| first_indexed | 2024-12-14T21:15:01Z |
| format | Article |
| id | doaj.art-af75880d4a2d43f6a2ed1cf4f4f45252 |
| institution | Directory Open Access Journal |
| issn | 2001-0370 |
| language | English |
| last_indexed | 2024-12-14T21:15:01Z |
| publishDate | 2020-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Computational and Structural Biotechnology Journal |
| spelling | doaj.art-af75880d4a2d43f6a2ed1cf4f4f452522022-12-21T22:47:07ZengElsevierComputational and Structural Biotechnology Journal2001-03702020-01-011819391946POT1-TPP1 telomere length regulation and diseaseTomas Aramburu0Sarah Plucinsky1Emmanuel Skordalakes2The Wistar Institute, 3601 Spruce St, Philadelphia, PA 19104, USAThe Wistar Institute, 3601 Spruce St, Philadelphia, PA 19104, USACorresponding author.; The Wistar Institute, 3601 Spruce St, Philadelphia, PA 19104, USATelomeres are DNA repeats at the ends of linear chromosomes and are replicated by telomerase, a ribonucleoprotein reverse transcriptase. Telomere length regulation and chromosome end capping are essential for genome stability and are mediated primarily by the shelterin and CST complexes. POT1-TPP1, a subunit of shelterin, binds the telomeric overhang, suppresses ATR-dependent DNA damage response, and recruits telomerase to telomeres for DNA replication. POT1 localization to telomeres and chromosome end protection requires its interaction with TPP1. Therefore, the POT1-TPP1 complex is critical to telomere maintenance and full telomerase processivity. The aim of this mini-review is to summarize recent POT1-TPP1 structural studies and discuss how the complex contributes to telomere length regulation. In addition, we review how disruption of POT1-TPP1 function leads to human disease.http://www.sciencedirect.com/science/article/pii/S2001037020303299TelomeresTelomeraseShelterinPOT1TPP1 |
| spellingShingle | Tomas Aramburu Sarah Plucinsky Emmanuel Skordalakes POT1-TPP1 telomere length regulation and disease Computational and Structural Biotechnology Journal Telomeres Telomerase Shelterin POT1 TPP1 |
| title | POT1-TPP1 telomere length regulation and disease |
| title_full | POT1-TPP1 telomere length regulation and disease |
| title_fullStr | POT1-TPP1 telomere length regulation and disease |
| title_full_unstemmed | POT1-TPP1 telomere length regulation and disease |
| title_short | POT1-TPP1 telomere length regulation and disease |
| title_sort | pot1 tpp1 telomere length regulation and disease |
| topic | Telomeres Telomerase Shelterin POT1 TPP1 |
| url | http://www.sciencedirect.com/science/article/pii/S2001037020303299 |
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