Molecular functions of MCM8 and MCM9 and their associated pathologies

Autores
Cornelis Helderman, Noah; Terlouw, Diantha; Bonjoch, Laia; Golubicki, Mariano; Antelo, Marina; Morreau, Hans; van Wezel, Tom; Castellvi Bell, Sergi; Goldberg, Yael; Nielsen, Maartje
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Minichromosome Maintenance 8 Homologous Recombination Repair Factor (MCM8) and Minichromosome Maintenance 9 Homologous Recombination Repair Factor (MCM9) are recently discovered minichromosome maintenance proteins and are implicated in multiple DNA-related processes and pathologies, including DNA replication (initiation), meiosis, homologous recombination and mismatch repair. Consistent with these molecular functions, variants of MCM8/MCM9 may predispose carriers to disorders such as infertility and cancer and should therefore be included in relevant diagnostic testing. In this overview of the (patho)physiological functions of MCM8 and MCM9 and the phenotype of MCM8/MCM9 variant carriers, we explore the potential clinical implications of MCM8/MCM9 variant carriership and highlight important future directions of MCM8 and MCM9 research. With this review, we hope to contribute to better MCM8/MCM9 variant carrier management and the poten- tial utilization of MCM8 and MCM9 in other facets of scientific research and medical care.
Fil: Cornelis Helderman, Noah. Leiden University; Países Bajos
Fil: Terlouw, Diantha. Leiden University; Países Bajos
Fil: Bonjoch, Laia. Universidad de Barcelona; España
Fil: Golubicki, Mariano. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Antelo, Marina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Morreau, Hans. Leiden University; Países Bajos
Fil: van Wezel, Tom. Leiden University; Países Bajos
Fil: Castellvi Bell, Sergi. Universidad de Barcelona; España
Fil: Goldberg, Yael. Rabin Medical Center Beilinson Hospital; Israel
Fil: Nielsen, Maartje. Leiden University; Países Bajos
Materia
MCM8
MCM9
CANCER
MOLECULAR
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/237255
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/237255
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Molecular functions of MCM8 and MCM9 and their associated pathologiesCornelis Helderman, NoahTerlouw, DianthaBonjoch, LaiaGolubicki, MarianoAntelo, MarinaMorreau, Hansvan Wezel, TomCastellvi Bell, SergiGoldberg, YaelNielsen, MaartjeMCM8MCM9CANCERMOLECULARhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Minichromosome Maintenance 8 Homologous Recombination Repair Factor (MCM8) and Minichromosome Maintenance 9 Homologous Recombination Repair Factor (MCM9) are recently discovered minichromosome maintenance proteins and are implicated in multiple DNA-related processes and pathologies, including DNA replication (initiation), meiosis, homologous recombination and mismatch repair. Consistent with these molecular functions, variants of MCM8/MCM9 may predispose carriers to disorders such as infertility and cancer and should therefore be included in relevant diagnostic testing. In this overview of the (patho)physiological functions of MCM8 and MCM9 and the phenotype of MCM8/MCM9 variant carriers, we explore the potential clinical implications of MCM8/MCM9 variant carriership and highlight important future directions of MCM8 and MCM9 research. With this review, we hope to contribute to better MCM8/MCM9 variant carrier management and the poten- tial utilization of MCM8 and MCM9 in other facets of scientific research and medical care.Fil: Cornelis Helderman, Noah. Leiden University; Países BajosFil: Terlouw, Diantha. Leiden University; Países BajosFil: Bonjoch, Laia. Universidad de Barcelona; EspañaFil: Golubicki, Mariano. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Antelo, Marina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Morreau, Hans. Leiden University; Países BajosFil: van Wezel, Tom. Leiden University; Países BajosFil: Castellvi Bell, Sergi. Universidad de Barcelona; EspañaFil: Goldberg, Yael. Rabin Medical Center Beilinson Hospital; IsraelFil: Nielsen, Maartje. Leiden University; Países BajosElsevier2023-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/237255Cornelis Helderman, Noah; Terlouw, Diantha; Bonjoch, Laia; Golubicki, Mariano; Antelo, Marina; et al.; Molecular functions of MCM8 and MCM9 and their associated pathologies; Elsevier; iScience; 26; 6; 6-2023; 1-212589-0042CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2589004223008143?via%3Dihubinfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.isci.2023.106737info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2026-02-26T10:20:08Zoai:ri.conicet.gov.ar:11336/237255instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982026-02-26 10:20:08.892CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Molecular functions of MCM8 and MCM9 and their associated pathologies
title Molecular functions of MCM8 and MCM9 and their associated pathologies
spellingShingle Molecular functions of MCM8 and MCM9 and their associated pathologies
Cornelis Helderman, Noah
MCM8
MCM9
CANCER
MOLECULAR
title_short Molecular functions of MCM8 and MCM9 and their associated pathologies
title_full Molecular functions of MCM8 and MCM9 and their associated pathologies
title_fullStr Molecular functions of MCM8 and MCM9 and their associated pathologies
title_full_unstemmed Molecular functions of MCM8 and MCM9 and their associated pathologies
title_sort Molecular functions of MCM8 and MCM9 and their associated pathologies
dc.creator.none.fl_str_mv Cornelis Helderman, Noah
Terlouw, Diantha
Bonjoch, Laia
Golubicki, Mariano
Antelo, Marina
Morreau, Hans
van Wezel, Tom
Castellvi Bell, Sergi
Goldberg, Yael
Nielsen, Maartje
author Cornelis Helderman, Noah
author_facet Cornelis Helderman, Noah
Terlouw, Diantha
Bonjoch, Laia
Golubicki, Mariano
Antelo, Marina
Morreau, Hans
van Wezel, Tom
Castellvi Bell, Sergi
Goldberg, Yael
Nielsen, Maartje
author_role author
author2 Terlouw, Diantha
Bonjoch, Laia
Golubicki, Mariano
Antelo, Marina
Morreau, Hans
van Wezel, Tom
Castellvi Bell, Sergi
Goldberg, Yael
Nielsen, Maartje
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv MCM8
MCM9
CANCER
MOLECULAR
topic MCM8
MCM9
CANCER
MOLECULAR
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Minichromosome Maintenance 8 Homologous Recombination Repair Factor (MCM8) and Minichromosome Maintenance 9 Homologous Recombination Repair Factor (MCM9) are recently discovered minichromosome maintenance proteins and are implicated in multiple DNA-related processes and pathologies, including DNA replication (initiation), meiosis, homologous recombination and mismatch repair. Consistent with these molecular functions, variants of MCM8/MCM9 may predispose carriers to disorders such as infertility and cancer and should therefore be included in relevant diagnostic testing. In this overview of the (patho)physiological functions of MCM8 and MCM9 and the phenotype of MCM8/MCM9 variant carriers, we explore the potential clinical implications of MCM8/MCM9 variant carriership and highlight important future directions of MCM8 and MCM9 research. With this review, we hope to contribute to better MCM8/MCM9 variant carrier management and the poten- tial utilization of MCM8 and MCM9 in other facets of scientific research and medical care.
Fil: Cornelis Helderman, Noah. Leiden University; Países Bajos
Fil: Terlouw, Diantha. Leiden University; Países Bajos
Fil: Bonjoch, Laia. Universidad de Barcelona; España
Fil: Golubicki, Mariano. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Antelo, Marina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Morreau, Hans. Leiden University; Países Bajos
Fil: van Wezel, Tom. Leiden University; Países Bajos
Fil: Castellvi Bell, Sergi. Universidad de Barcelona; España
Fil: Goldberg, Yael. Rabin Medical Center Beilinson Hospital; Israel
Fil: Nielsen, Maartje. Leiden University; Países Bajos
description Minichromosome Maintenance 8 Homologous Recombination Repair Factor (MCM8) and Minichromosome Maintenance 9 Homologous Recombination Repair Factor (MCM9) are recently discovered minichromosome maintenance proteins and are implicated in multiple DNA-related processes and pathologies, including DNA replication (initiation), meiosis, homologous recombination and mismatch repair. Consistent with these molecular functions, variants of MCM8/MCM9 may predispose carriers to disorders such as infertility and cancer and should therefore be included in relevant diagnostic testing. In this overview of the (patho)physiological functions of MCM8 and MCM9 and the phenotype of MCM8/MCM9 variant carriers, we explore the potential clinical implications of MCM8/MCM9 variant carriership and highlight important future directions of MCM8 and MCM9 research. With this review, we hope to contribute to better MCM8/MCM9 variant carrier management and the poten- tial utilization of MCM8 and MCM9 in other facets of scientific research and medical care.
publishDate 2023
dc.date.none.fl_str_mv 2023-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/237255
Cornelis Helderman, Noah; Terlouw, Diantha; Bonjoch, Laia; Golubicki, Mariano; Antelo, Marina; et al.; Molecular functions of MCM8 and MCM9 and their associated pathologies; Elsevier; iScience; 26; 6; 6-2023; 1-21
2589-0042
CONICET Digital
CONICET
url http://hdl.handle.net/11336/237255
identifier_str_mv Cornelis Helderman, Noah; Terlouw, Diantha; Bonjoch, Laia; Golubicki, Mariano; Antelo, Marina; et al.; Molecular functions of MCM8 and MCM9 and their associated pathologies; Elsevier; iScience; 26; 6; 6-2023; 1-21
2589-0042
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2589004223008143?via%3Dihub
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.isci.2023.106737
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1858305536590610432
score 13.176822

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