Genomic instability and DNA replication defects in progeroid syndromes
| Autor: | Fiammetta Vernì, Chiara Merigliano, Isabella Saggio, Mattia La Torre, Romina Burla |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genome instability Premature aging DNA Replication endocrine system congenital hereditary and neonatal diseases and abnormalities Laminopathy [object Object] Biology Progeroid syndromes Genomic Instability 03 medical and health sciences Progeria medicine Animals Humans Genetics Special Issue on Laminopathies integumentary system aging DNA replication nutritional and metabolic diseases Cell Biology DNA medicine.disease Lamin progeria nuclear lamina DNA damage Chromatin 030104 developmental biology |
| Zdroj: | Nucleus Nucleus (Austin, Tex. Online) 9 (2018): 368–379. doi:10.1080/19491034.2018.1476793 info:cnr-pdr/source/autori:Burla R.; La Torre M.; Merigliano C.; Verni F.; Saggio I./titolo:Genomic instability and DNA replication defects in progeroid syndromes/doi:10.1080%2F19491034.2018.1476793/rivista:Nucleus (Austin, Tex. Online)/anno:2018/pagina_da:368/pagina_a:379/intervallo_pagine:368–379/volume:9 |
| ISSN: | 1949-1042 |
| DOI: | 10.1080/19491034.2018.1476793 |
| Popis: | Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physiological and premature aging. A large amount of data, based mainly on the Hutchinson Gilford Progeria syndrome (HGPS), one of the best characterized progeroid laminopathy, has highlighted the role of lamins in multiple DNA activities, including replication, repair, chromatin organization and telomere function. On the other hand, the phenotypes generated by mutations affecting genes directly acting on DNA function, as mutations in the helicases WRN and BLM or in the polymerase polδ, share many of the traits of progeroid laminopathies. These evidences support the hypothesis of a concerted implication of DNA function and lamins in aging. We focus here on these aspects to contribute to the comprehension of the driving forces acting in progeroid syndromes and premature aging. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|