Molecular functions of MCM8 and MCM9 and their associated pathologies

Noah Cornelis Helderman; Diantha Terlouw; Laia Bonjoch; Mariano Golubicki; Marina Antelo; Hans Morreau; Tom van Wezel; Sergi Castellví-Bel; Yael Goldberg; Maartje Nielsen

doi:10.1016/j.isci.2023.106737

Molecular functions of MCM8 and MCM9 and their associated pathologies

Noah Cornelis Helderman, Diantha Terlouw, Laia Bonjoch, Mariano Golubicki, Marina Antelo, Hans Morreau, Tom van Wezel, Sergi Castellví-Bel, Yael Goldberg, Maartje Nielsen^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

9 Scopus citations

Abstract

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 potential utilization of MCM8 and MCM9 in other facets of scientific research and medical care.

Original language	English
Article number	106737
Journal	iScience
Volume	26
Issue number	6
DOIs	https://doi.org/10.1016/j.isci.2023.106737
State	Published - 16 Jun 2023
Externally published	Yes

Funding

Funders	Funder number
Argentinian National Cancer Institute
Fondo de Investigación Sanitaria
Instituto deSalud Carlos III
Fundació la Marató de TV3	2019-202008-10
Fundación Científica Asociación Española Contra el Cáncer	PRYGN211085CAST
Generalitat de Catalunya
Agència de Gestió d'Ajuts Universitaris i de Recerca	GRPRE 2017SGR21
Fondation Nelia et Amadeo Barletta
European Regional Development Fund	20/00113

Keywords

Cell biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.isci.2023.106737

Cite this

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title = "Molecular functions of MCM8 and MCM9 and their associated pathologies",

abstract = "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 potential utilization of MCM8 and MCM9 in other facets of scientific research and medical care.",

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year = "2023",

month = jun,

day = "16",

doi = "10.1016/j.isci.2023.106737",

language = "אנגלית",

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AU - Helderman, Noah Cornelis

AU - Terlouw, Diantha

AU - Bonjoch, Laia

AU - Golubicki, Mariano

AU - Antelo, Marina

AU - Morreau, Hans

AU - van Wezel, Tom

AU - Castellví-Bel, Sergi

AU - Goldberg, Yael

AU - Nielsen, Maartje

PY - 2023/6/16

Y1 - 2023/6/16

N2 - 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 potential utilization of MCM8 and MCM9 in other facets of scientific research and medical care.

AB - 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 potential utilization of MCM8 and MCM9 in other facets of scientific research and medical care.

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Molecular functions of MCM8 and MCM9 and their associated pathologies

Abstract

Funding

Keywords

UN SDGs

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