An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo

Several inherited human syndromes that severely affect organogenesis and other developmental processes are caused by mutations in replication stress response (RSR) genes. Although the molecular machinery of RSR is conserved, disease-causing mutations in RSR-genes may have distinct tissue-specific ou...

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Autores principales: Gabriel E. Matos-Rodrigues, Rodrigo A. P. Martins
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Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/6ceac0be911f4a9181217141128f9ca3
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spelling oai:doaj.org-article:6ceac0be911f4a9181217141128f9ca32021-11-04T06:47:05ZAn Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo2296-634X10.3389/fcell.2021.731308https://doaj.org/article/6ceac0be911f4a9181217141128f9ca32021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fcell.2021.731308/fullhttps://doaj.org/toc/2296-634XSeveral inherited human syndromes that severely affect organogenesis and other developmental processes are caused by mutations in replication stress response (RSR) genes. Although the molecular machinery of RSR is conserved, disease-causing mutations in RSR-genes may have distinct tissue-specific outcomes, indicating that progenitor cells may differ in their responses to RSR inactivation. Therefore, understanding how different cell types respond to replication stress is crucial to uncover the mechanisms of RSR-related human syndromes. Here, we review the ocular manifestations in RSR-related human syndromes and summarize recent findings investigating the mechanisms of RSR during eye development in vivo. We highlight a remarkable heterogeneity of progenitor cells responses to RSR inactivation and discuss its implications for RSR-related human syndromes.Gabriel E. Matos-RodriguesRodrigo A. P. MartinsFrontiers Media S.A.articlegenome stabilitycell cycleDNA damagechekcpointATRorganogenesisBiology (General)QH301-705.5ENFrontiers in Cell and Developmental Biology, Vol 9 (2021)
institution DOAJ
collection DOAJ
language EN
topic genome stability
cell cycle
DNA damage
chekcpoint
ATR
organogenesis
Biology (General)
QH301-705.5
spellingShingle genome stability
cell cycle
DNA damage
chekcpoint
ATR
organogenesis
Biology (General)
QH301-705.5
Gabriel E. Matos-Rodrigues
Rodrigo A. P. Martins
An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo
description Several inherited human syndromes that severely affect organogenesis and other developmental processes are caused by mutations in replication stress response (RSR) genes. Although the molecular machinery of RSR is conserved, disease-causing mutations in RSR-genes may have distinct tissue-specific outcomes, indicating that progenitor cells may differ in their responses to RSR inactivation. Therefore, understanding how different cell types respond to replication stress is crucial to uncover the mechanisms of RSR-related human syndromes. Here, we review the ocular manifestations in RSR-related human syndromes and summarize recent findings investigating the mechanisms of RSR during eye development in vivo. We highlight a remarkable heterogeneity of progenitor cells responses to RSR inactivation and discuss its implications for RSR-related human syndromes.
format article
author Gabriel E. Matos-Rodrigues
Rodrigo A. P. Martins
author_facet Gabriel E. Matos-Rodrigues
Rodrigo A. P. Martins
author_sort Gabriel E. Matos-Rodrigues
title An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo
title_short An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo
title_full An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo
title_fullStr An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo
title_full_unstemmed An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo
title_sort eye in the replication stress response: lessons from tissue-specific studies in vivo
publisher Frontiers Media S.A.
publishDate 2021
url https://doaj.org/article/6ceac0be911f4a9181217141128f9ca3
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