The role of KAT3 proteins in neural development

Rubinstein-Taybi syndrome (RSTS) is a genetic neurodevelopmental disorder characterized by mental impairment and a wide spectrum of congenital abnormalities, that is caused by hemizygous mutations in the KAT3 proteins CBP and P300. The precise function of KAT3 proteins during the development of the...

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Detalles Bibliográficos
Autor: González Martínez, Rocío
Tipo de recurso: tesis doctoral
Fecha de publicación:2022
País:España
Institución:Universidad Miguel Hernández de Elche
Repositorio:REDIUMH. Depósito Digital de la UMH
OAI Identifier:oai:dspace.umh.es:11000/29212
Acceso en línea:https://hdl.handle.net/11000/29212
Access Level:acceso abierto
Palabra clave:Neurobiología
Biología molecular
CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nervioso
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spelling The role of KAT3 proteins in neural developmentGonzález Martínez, RocíoNeurobiologíaBiología molecularCDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nerviosoRubinstein-Taybi syndrome (RSTS) is a genetic neurodevelopmental disorder characterized by mental impairment and a wide spectrum of congenital abnormalities, that is caused by hemizygous mutations in the KAT3 proteins CBP and P300. The precise function of KAT3 proteins during the development of the central nervous system has not been clearly stated. Here, throughout a combination of in vitro and in vivo approaches we dissect the functions of CBP and P300 in different steps of neural development. We first demonstrate in vitro that proliferation of neural progenitors is not affected in the absence of CBP or P300 but is seriously compromised when both proteins are absent simultaneuosly. In addition, elimination of either CBP or P300 impedes neuronal and glial differentiation although they are not individually required to preserve neuronal identity. Removal of CBP, p300 or both in retinal progenitors or postmitotic retinal ganglion cells confirm these results in vivo and demonstrate that CBP plays a more prominent role than P300 during retinal differentiation. These data contribute to a better understanding on the individual roles of KAT3 proteins in neural differentiation and may help on the prevention and treatment of RSTS patients.Universidad Miguel Hernández de ElcheHERRERA, ELOISAInstituto de NeurocienciasInstitutos de la UMH::Instituto de Neurociencias202320232022info:eu-repo/semantics/doctoralThesisapplication/pdf198application/pdfhttps://hdl.handle.net/11000/29212reponame:REDIUMH. Depósito Digital de la UMHinstname:Universidad Miguel Hernández de ElcheInglésinfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/4.0/oai:dspace.umh.es:11000/292122026-05-27T13:36:21Z
dc.title.none.fl_str_mv The role of KAT3 proteins in neural development
title The role of KAT3 proteins in neural development
spellingShingle The role of KAT3 proteins in neural development
González Martínez, Rocío
Neurobiología
Biología molecular
CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nervioso
title_short The role of KAT3 proteins in neural development
title_full The role of KAT3 proteins in neural development
title_fullStr The role of KAT3 proteins in neural development
title_full_unstemmed The role of KAT3 proteins in neural development
title_sort The role of KAT3 proteins in neural development
dc.creator.none.fl_str_mv González Martínez, Rocío
author González Martínez, Rocío
author_facet González Martínez, Rocío
author_role author
dc.contributor.none.fl_str_mv HERRERA, ELOISA
Instituto de Neurociencias
Institutos de la UMH::Instituto de Neurociencias
dc.subject.none.fl_str_mv Neurobiología
Biología molecular
CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nervioso
topic Neurobiología
Biología molecular
CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nervioso
description Rubinstein-Taybi syndrome (RSTS) is a genetic neurodevelopmental disorder characterized by mental impairment and a wide spectrum of congenital abnormalities, that is caused by hemizygous mutations in the KAT3 proteins CBP and P300. The precise function of KAT3 proteins during the development of the central nervous system has not been clearly stated. Here, throughout a combination of in vitro and in vivo approaches we dissect the functions of CBP and P300 in different steps of neural development. We first demonstrate in vitro that proliferation of neural progenitors is not affected in the absence of CBP or P300 but is seriously compromised when both proteins are absent simultaneuosly. In addition, elimination of either CBP or P300 impedes neuronal and glial differentiation although they are not individually required to preserve neuronal identity. Removal of CBP, p300 or both in retinal progenitors or postmitotic retinal ganglion cells confirm these results in vivo and demonstrate that CBP plays a more prominent role than P300 during retinal differentiation. These data contribute to a better understanding on the individual roles of KAT3 proteins in neural differentiation and may help on the prevention and treatment of RSTS patients.
publishDate 2022
dc.date.none.fl_str_mv 2022
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/doctoralThesis
format doctoralThesis
dc.identifier.none.fl_str_mv https://hdl.handle.net/11000/29212
url https://hdl.handle.net/11000/29212
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.format.none.fl_str_mv application/pdf
198
application/pdf
dc.publisher.none.fl_str_mv Universidad Miguel Hernández de Elche
publisher.none.fl_str_mv Universidad Miguel Hernández de Elche
dc.source.none.fl_str_mv reponame:REDIUMH. Depósito Digital de la UMH
instname:Universidad Miguel Hernández de Elche
instname_str Universidad Miguel Hernández de Elche
reponame_str REDIUMH. Depósito Digital de la UMH
collection REDIUMH. Depósito Digital de la UMH
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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