Article

BTRR complex deficiency is a driver for genomic instability in Bloom syndrome

2025-04-22

Abstract excerpt

Biallelic loss-of-function (LoF) variants in the BTRR complex members BLM , TOP3A, RMI1, and RMI2 cause Bloom syndrome (BS). The BTRR complex mainly acts on DNA replication and DNA repair processes, and dysfunction of this complex underlies, e.g., increased genomic instability and cancer predisposition associated with the BS phenotype. Here, we report CRISPR/Cas9-based genome-edited isogenic induced pluripotent...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: be275223-f446-5ade-a59c-925a769a81ef
DOI: 10.1101/2025.04.17.649287

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

BTRR complex deficiency is a driver for genomic instability in Bloom syndromeDOI 10.1101/2025.04.17.649287Read

Single-cell transcription profiles in Bloom syndrome patients link <i>BLM</i> deficiency with altered condensin complex expression signaturesSemantic proximity Read

Genome-scale mapping of DNA damage suppressors identifies GNB1L as essential for ATM and ATR biogenesisSemantic proximity Read

The BLM-TOP3A-RMI1-RMI2 proximity map reveals that RAD54L2 suppresses sister chromatid exchangesSemantic proximity Read

Genome-wide Chromosome-specific Aneuploidy Engineering and Phenotypic Characterization with CRISPR-TaijiSemantic proximity Read

G-quadruplexes regulate chromatin accessibility and gene expression in Bloom SyndromeSemantic proximity Read

BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genesSemantic proximity Read

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.Semantic proximity Read

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.Semantic proximity Read

Bloom syndrome and the underlying causes of genetic instability.Semantic proximity Read

Bloom's syndrome gene-deficient phenotype in mouse primary cells induced by a modified tetracycline-controlled trans-silencer.Semantic proximity Read

Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase.Semantic proximity Read

Mismatch repair genes identified using genetic screens in Blm-deficient embryonic stem cells.Semantic proximity Read