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BLM helicase negatively regulates a DNA damage dependent CDX2 inducible microRNA signature which targets BRCA1

ABSTRACT: In trying to understand how DNA damage modulates miR expression by high level of endogenous DNA damage, we carried out small RNA sequencing with two pairs of isogenic cell lines generated from two BS patients. For this, miRNA from immortalized cells from GM03509 complemented with either GFP-BLM (Clone 4.3.4) or GFP (Clone 100) or immortalized cells from another BS patient GM08505 complemented with either GFP-BLM or GFP were profiled by Next Generation Sequencing.

ORGANISM(S): Homo sapiens

PROVIDER: GSE153128 | GEO | 2021/08/02

REPOSITORIES: GEO

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ChIP Sequencing of CRISPR/Cas9 corrected Bloom Syndrome patient cell line using antibody against BLM

Project description:BLM protein has been shown to play an important role in homologous recombination (HR) repair. We report that BLM interacts with RAD54 (another HR repair protein) to enhance its chromatin remodeling function. This experiment identifies that BLM gets recruited to different genetic loci even in the absence of damage, possibly along with RAD54 chromatin remodeler.

2024-04-03 | E-MTAB-11372 | biostudies-arrayexpress

Bloom syndrome protein restrains innate immune sensing of DNA damage by cGAS.

Project description:Cellular innate immune sensors of DNA are essential for host defense against invading pathogens. However, the presence of self-derived DNA inside cells poses a biological risk of triggering an inappropriate immune response. The mechanisms limiting induction of inflammation by self nucleic acids are poorly understood. BLM RecQ like helicase is essential for the maintenance of genome integrity and deficient in Bloom syndrome, a rare genetic disease characterized by genome instability, susceptibility to cancer and immunodeficiency. Here, we show that BLM-deficient cells exhibit a constitutively upregulated inflammatory interferon-stimulated gene (ISG) signature. Restoring BLM expression reverts ISG expression to baseline. ISG expression in BLM-deficient fibroblasts is mediated by the cGAS-STING-IRF3 cytosolic DNA sensing pathway. Increased DNA damage or downregulation of the cytoplasmic exonuclease TREX1 enhances ISG expression in BS fibroblasts, and cytoplasmic micronuclei positive for cGAS are increased in BLM-deficient fibroblasts. Finally, BS patients demonstrate elevated ISG expression in peripheral blood. We conclude that BLM is essential to limit the expression of pro-inflammatory genes resulting from the sensing of DNA damage products by the cGAS-STING-IRF3 pathway. These results reveal an unexpected role for BLM in limiting ISG induction, thus connecting DNA damage to innate immunity, which may contribute to human pathogenesis.

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Role of BLM helicase in augmenting the phosphorylation of DNA damage response (DDR) proteins.

Project description:Assessing the importance of BLM helicase upon DNA damage in the phosphorylation enhancement of DNA damage response (DDR) proteins via phosphoproteomic profiling in the presence and absence of BLM.

2025-05-06 | PXD048117 | Pride

BLM helicase negatively regulates a DNA damage dependent CDX2 inducible microRNA signature which targets BRCA1

Project description:BLM helicase negatively regulates a DNA damage dependent CDX2 inducible microRNA signature which targets BRCA1

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Assessment of basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Blm-deficient Ptch1+/- mice

Project description:Basal cell carcinomas (BCCs) have relative genomic stability and relatively benign clinical behavior but whether these two are related causally is unknown. To investigate the effects of introducing genomic instability into murine BCCs, we have compared ionizing radiation-induced tumorigenesis in Ptch1+/- mice vs. that in Ptch1+/- mice carrying mutant Blm alleles. We found that BCCs in Ptch1+/- Blmtm3Brd/tm3Brd mice had a trend towards greater genomic instability as measured by array CGH and that these mice developed significantly more microscopic BCCs than did Ptch1+/- Blm+/tm3Brd or Ptch1+/- Blm+/+ mice. The mutant Blm alleles also markedly enhanced the formation of rhabdomyosarcomas (RMS), another cancer to which Ptch1+/- mice and PTCH1+/- (basal cell nevus syndrome) patients are susceptible. Highly recurrent but different copy number changes were associated with the two tumor types and included losses of chromosomes 4 and 10 in all BCCs and gain of chromosome 10 in 80% of RMSs. Loss of chromosome 11 and 13, including the Trp53 and Ptch1 loci respectively, occurred frequently in BCCs, suggesting tissue-specific selection for genes or pathways that collaborate with Ptch deficiency in tumorigenesis. Despite the quantitative differences, there was no dramatic qualitative difference in the BCC or RMS tumors associated with the mutant Blm genotype.

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Assessment of basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Blm-deficient Ptch1+/- mice

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A POLD3/BLM dependent pathway handles DSBs in transcribed chromatin upon excessive RNA:DNA hybrids accumulation

Project description:Transcriptionally active loci are particularly prone to breakage and mounting evidence suggest that DNA Double-Strand Breaks arising in active genes are handled by a dedicated repair pathway, Transcription-Coupled DSB Repair (TC-DSBR), that entails R-loop accumulation and dissolution. Here, we uncovered a function for the Bloom RecQ DNA helicase (BLM) in TC-DSBR in human cells. BLM is recruited in a transcription dependent-manner at DSBs where it fosters resection, RAD51 binding and accurate Homologous Recombination repair. However, in an R-loop dissolution-deficient background, we found that BLM promotes cell death. We report that upon excessive R-loop accumulation, DNA synthesis is enhanced at DSBs, in a anner that depends on BLM and POLD3. Altogether our work unveils a role for BLM at DSBs in active chromatin, and highlights the toxic potential of RNA:DNA hybrids that accumulate at transcription-associated DSBs.

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Project description:The Bloom syndrome DNA helicase BLM contributes to chromosome stability through its roles in double-strand break repair by homologous recombination and DNA replication fork restart during the replication stress response. Loss of BLM activity leads to Bloom syndrome, which is characterized by extraordinary cancer risk and small stature. Here, we have analyzed the composition of the BLM complex in unperturbed cells and identified a direct physical interaction with the Mcm6 subunit of the minichromosome maintenance (MCM) complex by co-immunopecipitations using endogenous and recombinant proteins as well as two-hybrid analysis.

2022-02-15 | PXD018823 | Pride

Effect of TOPBEffect of TOPBP1 on BLM phosphosites

Project description:Identification of BLM phosphosites. The experiment is composed by 2 parts: i) identification of BLM phosphosites with DDA method ii) quantification of phosphosites with a targeted method.

2021-11-25 | PXD026460 | Pride

BLM deficiency affects cytotoxicity of temozolomide and olaparib against human glioma cells and induces cellular senescence or polyploidy

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