A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation

Proc Natl Acad Sci U S A. 2026 Feb 24;123(8):e2526022123. doi: 10.1073/pnas.2526022123. Epub 2026 Feb 20.

Abstract

Chromatin loading of the hexameric replicative helicase MCM2-7 complex requires coordinated interactions with the origin recognition complex (ORC), CDC6, and CDT1. MCM2-7 not bound to DNA forms a single hexamer (SH) with an open DNA entry gate between MCM2 and MCM5. Two MCM2-7 SHs can be loaded sequentially to form the double hexamer (DH) that encircles the DNA duplex. Activated MCM2-7 then unwinds DNA and initiates DNA replication. Our cryoelectron microscopy analyses show that a fraction of human MCM2-7 without DNA exists as DH. Unexpectedly, we find that the MCM3 winged helix domain (WHD) docks on MCM2 in both DNA-free DH and SH, creating a safety latch across the DNA entry gate to block DNA entry into the central channel. The safety latch can be opened by ORC-CDC6 binding. Perturbing this latch by structure-based or disease-related mutations of MCM3 causes replication defects and DNA damage checkpoint activation. Shortening the MCM3 linker between the helicase domain and WHD alleviates the cell cycle defects of the latch-strengthening mutation. Our findings uncover a regulated step in MCM2-7 loading with implications for human diseases.

Keywords: DNA replication; Meier–Gorlin syndrome; helicase; winged helix domain.

MeSH terms

  • Cell Cycle Proteins / genetics
  • Cell Cycle Proteins / metabolism
  • Congenital Microtia* / genetics
  • Congenital Microtia* / metabolism
  • Cryoelectron Microscopy
  • DNA / genetics
  • DNA / metabolism
  • DNA Replication* / genetics
  • Growth Disorders
  • Humans
  • Micrognathism* / genetics
  • Micrognathism* / metabolism
  • Minichromosome Maintenance Complex Component 2* / chemistry
  • Minichromosome Maintenance Complex Component 2* / genetics
  • Minichromosome Maintenance Complex Component 2* / metabolism
  • Minichromosome Maintenance Proteins* / chemistry
  • Minichromosome Maintenance Proteins* / genetics
  • Minichromosome Maintenance Proteins* / metabolism
  • Mutation*
  • Origin Recognition Complex / genetics
  • Origin Recognition Complex / metabolism
  • Patella* / abnormalities
  • Patella* / metabolism

Substances

  • Minichromosome Maintenance Proteins
  • Cell Cycle Proteins
  • Minichromosome Maintenance Complex Component 2
  • MCM2 protein, human
  • Origin Recognition Complex
  • DNA

Supplementary concepts

  • Meier-Gorlin syndrome