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Structure paper

TitleModelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Journal, issue, pagesNat Commun, Vol. 16, Issue 1, Page 4782, Year 2025
Publish dateMay 23, 2025
AuthorsSamantha Corrà / Alessandro Zuppardo / Sebastian Valenzuela / Louise Jenninger / Raffaele Cerutti / Sirelin Sillamaa / Emily Hoberg / Katarina A S Johansson / Urska Rovsnik / Sara Volta / Pedro Silva-Pinheiro / Hannah Davis / Aleksandra Trifunovic / Michal Minczuk / Claes M Gustafsson / Anu Suomalainen / Massimo Zeviani / Bertil Macao / Xuefeng Zhu / Maria Falkenberg / Carlo Viscomi /
PubMed AbstractDNA polymerase γ (POLγ), responsible for mitochondrial DNA replication, consists of a catalytic POLγA subunit and two accessory POLγB subunits. Mutations in POLG, which encodes POLγA, lead to ...DNA polymerase γ (POLγ), responsible for mitochondrial DNA replication, consists of a catalytic POLγA subunit and two accessory POLγB subunits. Mutations in POLG, which encodes POLγA, lead to various mitochondrial diseases. We investigated the most common POLG mutations (A467T, W748S, G848S, Y955C) by characterizing human and mouse POLγ variants. Our data reveal that these mutations significantly impair POLγ activities, with mouse variants exhibiting milder defects. Cryogenic electron microscopy highlighted structural differences between human and mouse POLγ, particularly in the POLγB subunit, which may explain the higher activity of mouse POLγ and the reduced severity of mutations in mice. We further generated a panel of mouse models mirroring common human POLG mutations, providing crucial insights into the pathogenesis of POLG-related disorders and establishing robust models for therapeutic development. Our findings emphasize the importance of POLγB in modulating the severity of POLG mutations.
External linksNat Commun / PubMed:40404629 / PubMed Central
MethodsEM (single particle)
Resolution2.54 - 3.24 Å
Structure data

51109

9g74

EMDB-51109, PDB-9g74:
Mouse mitochondrial DNA polymerase gamma ternary complex in replication conformer
Method: EM (single particle) / Resolution: 2.75 Å

51110

9g75

EMDB-51110, PDB-9g75:
Mouse mitochondrial DNA polymerase gamma ternary complex in intermediate conformer
Method: EM (single particle) / Resolution: 2.98 Å

EMDB-51111: Mouse mitochondrial DNA polymerase gamma ternary complex in error-editing conformer (consensus map)
Method: EM (single particle) / Resolution: 2.87 Å

EMDB-51112: Mouse mitochondrial DNA polymerase gamma ternary complex in error-editing conformer (Local refinement map of subunit A and DNA)
Method: EM (single particle) / Resolution: 2.77 Å

EMDB-51113: Mouse mitochondrial DNA polymerase gamma ternary complex in error-editing conformer (local refinement of subunit B)
Method: EM (single particle) / Resolution: 2.7 Å

51114

9g77

EMDB-51114: Mouse mitochondrial DNA polymerase gamma ternary complex in error-editing conformer
PDB-9g77: Mouse mitochondrial DNA polymerase gamma ternary complex in error-editing conformer (composite)
Method: EM (single particle) / Resolution: 2.87 Å

52815

9ibx

EMDB-52815, PDB-9ibx:
Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in replication conformer
Method: EM (single particle) / Resolution: 2.54 Å

EMDB-52816: Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in human-like error-editing conformer (consensus map)
Method: EM (single particle) / Resolution: 3.08 Å

EMDB-52817: Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in human-like error-editing conformer (local refinement map of subunit A and DNA)
Method: EM (single particle) / Resolution: 3.02 Å

EMDB-52818: Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in human-like error-editing conformer (local refinement map of subunit B)
Method: EM (single particle) / Resolution: 2.94 Å

52819

9ibz

EMDB-52819, PDB-9ibz:
Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in human-like error-editing conformer (composite)
Method: EM (single particle) / Resolution: 3.08 Å

EMDB-52820: Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in mouse-like error-editing conformer (consensus map)
Method: EM (single particle) / Resolution: 3.24 Å

EMDB-52821: Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in mouse-like error-editing conformer (local refinement map of subunit A and DNA)
Method: EM (single particle) / Resolution: 3.09 Å

EMDB-52822: Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in mouse-like error-editing conformer (local refinement map of subunit B)
Method: EM (single particle) / Resolution: 3.19 Å

52823

9ic0

EMDB-52823, PDB-9ic0:
Chimeric mitochondrial DNA polymerase gamma ternary complex (mAhB) in mouse-like error-editing conformer (composite)
Method: EM (single particle) / Resolution: 3.24 Å

52824

9ic1

EMDB-52824, PDB-9ic1:
Chimeric mitochondrial DNA polymerase gamma ternary complex (hAmB) in replication conformer
Method: EM (single particle) / Resolution: 2.73 Å

EMDB-52825: Chimeric mitochondrial DNA polymerase gamma ternary complex (hAmB) in mouse-like error-editing conformer (consensus map)
Method: EM (single particle) / Resolution: 2.96 Å

EMDB-52826: Chimeric mitochondrial DNA polymerase gamma ternary complex (hAmB) in mouse-like error-editing conformer (local refinement map of subunit A and DNA)
Method: EM (single particle) / Resolution: 2.87 Å

EMDB-52827: Chimeric mitochondrial DNA polymerase gamma ternary complex (hAmB) in mouse-like error-editing conformer (local refinement map of subunit B)
Method: EM (single particle) / Resolution: 2.87 Å

52828

9ic3

EMDB-52828, PDB-9ic3:
Chimeric mitochondrial DNA polymerase gamma ternary complex (hAmB) in mouse-like error-editing conformer (composite)
Method: EM (single particle) / Resolution: 2.96 Å

Chemicals

ChemComp-CA:
Unknown entry

ChemComp-DCP:
2'-DEOXYCYTIDINE-5'-TRIPHOSPHATE

Source
  • mus musculus (house mouse)
  • synthetic construct (others)
  • homo sapiens (human)
KeywordsTRANSFERASE / Mitochondrial DNA polymerase

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