A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome

Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled R...

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Detalhes bibliográficos
Autores: Moriel Carretero, María, Herrera Moyano, Emilia, Aguilera López, Andrés
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2015
País:España
Recursos:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:idus.us.es:11441/55889
Acesso em linha:http://hdl.handle.net/11441/55889
https://doi.org/10.1080/21675511.2015.1079362
Access Level:acceso abierto
Palavra-chave:Cockayne Syndrome
Nucleotide excision repair (NER)
Rad3/XPD
Xeroderma pigmentosum
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spelling A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne SyndromeMoriel Carretero, MaríaHerrera Moyano, EmiliaAguilera López, AndrésCockayne SyndromeNucleotide excision repair (NER)Rad3/XPDXeroderma pigmentosumNucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled Repair, respectively. Nevertheless, both afflictions sporadically occur together, giving rise to XP/CS; however, the molecular basis of XP/CS is not understood very well. Many efforts have been made to clarify why mutations in only 4 NER genes, namely XPB, XPD, XPF and XPG, are the basis of this disease. Effort has also been made to unravel why mutations within these genes lead to XP, XP/CS, or other pathologies. We have recently contributed to the disclosure of this puzzle by characterizing Rad3/XPD mutations in Saccharomyces cerevisiae and human cells. Based on our, and others', observations, we propose a model compatible with all XP/CS cases and the current bibliography.Taylor & Francis OpenGenética2015info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/11441/55889https://doi.org/10.1080/21675511.2015.1079362reponame:idUS. Depósito de Investigación de la Universidad de Sevillainstname:Universidad de Sevilla (US)InglésRare Diseases, 3 (1), e1079362-1-e1079362-6.http://doi.org/10.1080/21675511.2015.1079362info:eu-repo/semantics/openAccessoai:idus.us.es:11441/558892026-06-17T12:51:07Z
dc.title.none.fl_str_mv A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
title A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
spellingShingle A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
Moriel Carretero, María
Cockayne Syndrome
Nucleotide excision repair (NER)
Rad3/XPD
Xeroderma pigmentosum
title_short A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
title_full A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
title_fullStr A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
title_full_unstemmed A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
title_sort A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome
dc.creator.none.fl_str_mv Moriel Carretero, María
Herrera Moyano, Emilia
Aguilera López, Andrés
author Moriel Carretero, María
author_facet Moriel Carretero, María
Herrera Moyano, Emilia
Aguilera López, Andrés
author_role author
author2 Herrera Moyano, Emilia
Aguilera López, Andrés
author2_role author
author
dc.contributor.none.fl_str_mv Genética
dc.subject.none.fl_str_mv Cockayne Syndrome
Nucleotide excision repair (NER)
Rad3/XPD
Xeroderma pigmentosum
topic Cockayne Syndrome
Nucleotide excision repair (NER)
Rad3/XPD
Xeroderma pigmentosum
description Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled Repair, respectively. Nevertheless, both afflictions sporadically occur together, giving rise to XP/CS; however, the molecular basis of XP/CS is not understood very well. Many efforts have been made to clarify why mutations in only 4 NER genes, namely XPB, XPD, XPF and XPG, are the basis of this disease. Effort has also been made to unravel why mutations within these genes lead to XP, XP/CS, or other pathologies. We have recently contributed to the disclosure of this puzzle by characterizing Rad3/XPD mutations in Saccharomyces cerevisiae and human cells. Based on our, and others', observations, we propose a model compatible with all XP/CS cases and the current bibliography.
publishDate 2015
dc.date.none.fl_str_mv 2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11441/55889
https://doi.org/10.1080/21675511.2015.1079362
url http://hdl.handle.net/11441/55889
https://doi.org/10.1080/21675511.2015.1079362
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Rare Diseases, 3 (1), e1079362-1-e1079362-6.
http://doi.org/10.1080/21675511.2015.1079362
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Taylor & Francis Open
publisher.none.fl_str_mv Taylor & Francis Open
dc.source.none.fl_str_mv reponame:idUS. Depósito de Investigación de la Universidad de Sevilla
instname:Universidad de Sevilla (US)
instname_str Universidad de Sevilla (US)
reponame_str idUS. Depósito de Investigación de la Universidad de Sevilla
collection idUS. Depósito de Investigación de la Universidad de Sevilla
repository.name.fl_str_mv
repository.mail.fl_str_mv
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