دورية أكاديمية
RINT1 Loss Impairs Retinogenesis Through TRP53-Mediated Apoptosis.
| العنوان: | RINT1 Loss Impairs Retinogenesis Through TRP53-Mediated Apoptosis. |
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| المؤلفون: | Gomes AL; Programa de Biologia Celular e do Desenvolvimento, Instituto de Ciências Biomédicas, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Matos-Rodrigues GE; Programa de Biologia Celular e do Desenvolvimento, Instituto de Ciências Biomédicas, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Frappart PO; Institute of Toxicology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Martins RAP; Programa de Biologia Celular e do Desenvolvimento, Instituto de Ciências Biomédicas, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. |
| المصدر: | Frontiers in cell and developmental biology [Front Cell Dev Biol] 2020 Jul 30; Vol. 8, pp. 711. Date of Electronic Publication: 2020 Jul 30 (Print Publication: 2020). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Media S.A., [2013]- |
| مستخلص: | Genomic instability in the central nervous system (CNS) is associated with defective neurodevelopment and neurodegeneration. Congenital human syndromes that affect the CNS development originate from mutations in genes of the DNA damage response (DDR) pathways. RINT1 ( Rad50-interacting protein 1 ) is a partner of RAD50, that participates in the cellular responses to DNA double-strand breaks (DSB). Recently, we showed that Rint1 regulates cell survival in the developing brain and its loss led to premature lethality associated with genomic stability. To bypass the lethality of Rint1 inactivation in the embryonic brain and better understand the roles of RINT1 in CNS development, we conditionally inactivated Rint1 in retinal progenitor cells (RPCs) during embryogenesis. Rint1 loss led to accumulation of endogenous DNA damage, but RINT1 was not necessary for the cell cycle checkpoint activation in these neural progenitor cells. As a consequence, proliferating progenitors and postmitotic neurons underwent apoptosis causing defective neurogenesis of retinal ganglion cells, malformation of the optic nerve and blindness. Notably, inactivation of Trp53 prevented apoptosis of the RPCs and rescued the generation of retinal neurons and vision loss. Together, these results revealed an essential role for TRP53-mediated apoptosis in the malformations of the visual system caused by RINT1 loss and suggests that defective responses to DNA damage drive retinal malformations. (Copyright © 2020 Gomes, Matos-Rodrigues, Frappart and Martins.) |
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| فهرسة مساهمة: | Keywords: DNA damage response; ganglion cells; neurodegeneration; neurogenesis; optic nerve hypoplasia; replicative stress; visual system development |
| تواريخ الأحداث: | Date Created: 20200828 Latest Revision: 20200928 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC7406574 |
| DOI: | 10.3389/fcell.2020.00711 |
| PMID: | 32850831 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2296-634X |
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| DOI: | 10.3389/fcell.2020.00711 |