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Article

Inactivation of murine Usp1 results in genomic instability and a Fanconi anemia phenotype.

Developmental cell - 1 Feb 2009

Kim Jung Min, Parmar Kalindi, Huang Min, Weinstock David M, Ruit Carrie Ann, Kutok Jeffrey L, D'Andrea Alan D

Abstract excerpt

Fanconi anemia (FA) is a human genetic disease characterized by chromosome instability, cancer predisposition, and cellular hypersensitivity to DNA crosslinking agents. The FA pathway regulates the repair of DNA crosslinks. A critical step in this pathway is the monoubiquitination and deubiquitination of FANCD2. Deubiquitination of FANCD2 is mediated by the ubiquitin protease, USP1. Here, we demonstrate that...

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Source

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Identifiers

PMID: 19217432
DOI: 10.1016/j.devcel.2009.01.001
PMCID: PMC3134285

Genes

FANCD2
USP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inactivation of murine Usp1 results in genomic instability and a Fanconi anemia phenotype.PMID 19217432Read ↗

The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway.Semantic proximity Read ↗

The role of USP1 autocleavage in DNA interstrand crosslink repair.Semantic proximity Read ↗

Deubiquitination of FANCD2 is required for DNA crosslink repair.Semantic proximity Read ↗

Hematopoietic Stem Cell Defects in Mice with Deficiency of Fancd2 or Usp1Semantic proximity Read ↗

Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemia.Semantic proximity Read ↗

Mutations in the 'Fingers' subdomain of the deubiquitinase USP1 modulate its function and activity.Semantic proximity Read ↗

Fancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing.Semantic proximity Read ↗

FANCD2 activates transcription of TAp63 and suppresses tumorigenesis.Semantic proximity Read ↗

Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48.Semantic proximity Read ↗

Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.Semantic proximity Read ↗

The USP1-UAF1 complex interacts with RAD51AP1 to promote homologous recombination repair.Semantic proximity Read ↗

Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair.Semantic proximity Read ↗

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