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All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders — Europe PMC PMID:32589669

Source: Europe PMC (en)
Original: https://europepmc.org/article/MED/32589669
DOI: 10.1371/journal.pgen.1008902
License (as archived): CC0-1.0
Archived: 2026-11-08T08:16:03.806Z
SHA-256 of the archived text: 54e6560580d510fe256007ca7095fe3f785a082ed89c19a2efa1fd5b7be9d5c8
Stable URL of this page: https://metraipolis.com/documento/dc_ef8ece4fefae

How to cite

All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders — Europe PMC PMID:32589669 — Europe PMC (en), https://europepmc.org/article/MED/32589669 (CC0-1.0); archived copy: https://metraipolis.com/documento/dc_ef8ece4fefae (Metraipolis archive dc_ef8ece4fefae, sha256 54e6560580d510fe256007ca7095fe3f785a082ed89c19a2efa1fd5b7be9d5c8)

BibTeX

@misc{dcef8ece4fefae,
  title = {All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders — Europe PMC PMID:32589669},
  howpublished = {Europe PMC (en)},
  url = {https://europepmc.org/article/MED/32589669},
  note = {License CC0-1.0; archived copy https://metraipolis.com/documento/dc_ef8ece4fefae; sha256 54e6560580d510fe256007ca7095fe3f785a082ed89c19a2efa1fd5b7be9d5c8},
  year = {2026}
}

Archived text

Reproduced under CC0-1.0. Attribution: Europe PMC (en), https://europepmc.org/article/MED/32589669. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

Expansion of a CGG-repeat tract in the 5' untranslated region of the FMR1 gene causes the fragile X-related disorders (FXDs; aka the FMR1 disorders). The expansion mechanism is likely shared by the 35+ other diseases resulting from expansion of a disease-specific microsatellite, but many steps in this process are unknown. We have shown previously that expansion is dependent upon functional mismatch repair proteins, including an absolute requirement for MutLγ, one of the three MutL heterodimeric complexes found in mammalian cells. We demonstrate here that both MutLα and MutLβ, the two other MutL complexes present in mammalian cells, are also required for most, if not all, expansions in a mouse embryonic stem cell model of the FXDs. A role for MutLα and MutLβ is consistent with human GWA studies implicating these complexes as modifiers of expansion risk in other Repeat Expansion Diseases. The requirement for all three complexes suggests a novel model in which these complexes co-operate to generate expansions. It also suggests that the PMS1 subunit of MutLβ may be a reasonable therapeutic target in those diseases in which somatic expansion is an important disease modifier.

Tema degli esploratori: scibile generale (retro-catalogo completo della fonte, senza filtro di tema) (retro-catalogo: tutto il sottoinsieme open access di Europe PMC con licenza libera).
Pubblicazione: PLoS genetics, 2020 (prima pubblicazione 2020-06-26).
Identificativi: PMID 32589669 · PMCID PMC7347238 · DOI 10.1371/journal.pgen.1008902.
Pagina: https://europepmc.org/article/MED/32589669 — https://doi.org/10.1371/journal.pgen.1008902. Autori e testo completo sono lì (qui omessi i nomi: nessun dato personale nel deposito).
Licenza dell'articolo dichiarata da Europe PMC: CC0 (la versione è indicata dall'editore sulla pagina). Abstract riportato senza modifiche al contenuto, con attribuzione; deposito marcato CC0.
Letto il 2026-11-08T08:11:30.893Z tramite l'API REST ufficiale di Europe PMC (EMBL-EBI), nel rispetto del robots.txt e del crawl-delay.