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Molecular functions of MCM8 and MCM9 and their associated pathologies

Noah Cornelis Helderman1, Diantha Terlouw1,2, Laia Bonjoch3

  • 1Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Iscience
|June 28, 2023
PubMed

Insights

Minichromosome Maintenance 8 (MCM8) and 9 (MCM9) proteins are vital for DNA repair and replication. Variants in MCM8/MCM9 are linked to infertility and cancer, necessitating inclusion in diagnostic testing.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • Minichromosome Maintenance 8 (MCM8) and Minichromosome Maintenance 9 (MCM9) are recently identified proteins crucial for DNA maintenance.
  • These proteins play roles in DNA replication, meiosis, homologous recombination, and mismatch repair.

Purpose of the Study:

  • To provide an overview of the physiological and pathological functions of MCM8 and MCM9.
  • To explore the clinical implications of MCM8/MCM9 variant carriership.
  • To highlight future research directions for MCM8 and MCM9.

Main Methods:

  • Literature review of existing studies on MCM8 and MCM9 functions and associated phenotypes.
  • Analysis of the role of MCM8/MCM9 variants in human diseases.

Main Results:

  • MCM8 and MCM9 are implicated in critical DNA processes, including replication initiation and homologous recombination repair.
  • Genetic variants in MCM8/MCM9 are associated with increased predisposition to infertility and cancer.
  • Understanding these variants is crucial for accurate diagnosis and risk assessment.

Conclusions:

  • MCM8 and MCM9 are essential for genomic stability and have significant clinical relevance.
  • Inclusion of MCM8/MCM9 in diagnostic testing is recommended for individuals at risk for related disorders.
  • Further research into MCM8 and MCM9 functions can advance scientific understanding and medical care.
Keywords:
Cell biology

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