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 journalReview articlepeer-review

2 Scopus citations


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 languageEnglish
Article number106737
Issue number6
StatePublished - 16 Jun 2023
Externally publishedYes


FundersFunder number
Argentinian National Cancer Institute
Fondo de Investigación Sanitaria
Instituto deSalud Carlos III
Fundació la Marató de TV32019-202008-10
Fundació la Marató de TV3
Fundación Científica Asociación Española Contra el CáncerPRYGN211085CAST
Fundación Científica Asociación Española Contra el Cáncer
Generalitat de Catalunya
Agència de Gestió d'Ajuts Universitaris i de RecercaGRPRE 2017SGR21
Agència de Gestió d'Ajuts Universitaris i de Recerca
Fondation Nelia et Amadeo Barletta
European Regional Development Fund20/00113
European Regional Development Fund


    • Cell biology


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