Maria Jasin

Cell-in-drop genotyping detects megabase-scale loss of heterozygosity as a quantitative marker for CRISPR-Cas9 on-target toxicity

Mutational and functional heterogeneity of homology-directed repair deficiency and clinical implications

The paper shows HRd is a continuum with functional and mutational heterogeneity, highlighting the need for refined molecular classification for precision interventions.

MRE11 suppresses germline mutagenesis at meiotic double-strand breaks in mice

The paper investigates how MRE11 suppresses germline mutagenesis at meiotic double-strand breaks in mice by analyzing the effects of DSB processing and end joining.

Megabase-scale loss of heterozygosity provoked by CRISPR-Cas9 DNA double-strand breaks

This study investigates LOH caused by CRISPR-Cas9 DSBs, showing large-scale loss and mechanisms, and highlights risks when combined with end joining inhibition.

TRIP13 fosters both transcriptional silencing and DSB repair during meiosis

This study shows TRIP13 is involved in transcription suppression and DSB repair during meiosis, with distinct roles in spermatocytes and oocytes.

BRCA2 reversion mutation-independent resistance to PARP inhibition in prostate cancer through loss of function perturbations in the DNA pre-replication complex

This study identifies loss of function mutations in the DNA pre-replication complex as a mechanism for PARP inhibitor resistance in BRCA-mutant prostate cancer, independent of reversion mutations.

Molecular basis of FIGNL1 in dissociating RAD51 from DNA and chromatin

This study identifies the molecular mechanism by which FIGNL1 disassembles RAD51 filaments from DNA and chromatin, revealing its role in genome stability.

BRCA2 promotes genomic integrity and therapy resistance primarily through its role in homology-directed repair

The paper shows BRCA2 stabilizes RAD51 filaments for fork protection and gap suppression, but HDR deficiency primarily drives chemotherapeutic sensitivity.

De novo deletions and duplications at recombination hotspots in mouse germlines

The paper identifies deletion and duplication events caused by double cuts at recombination hotspots in mouse germlines, revealing their role in meiotic mutagenesis.

Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex

This study identifies the SWS1-SWSAP1-SPIDR complex as a regulator of distinct homologous recombination pathways, with specific roles in inter-homolog HDR and cancer-related genomic instability.

Reading frame restoration at the EYS locus, and allele-specific chromosome removal after Cas9 cleavage in human embryos

The paper evaluates Cas9-induced repair outcomes at the EYS locus in human embryos, showing microhomology-mediated end joining restores reading frames without mosaicism, while unrepaired breaks lead to chromosome loss.

Ensuring meiotic DNA break formation in the mouse pseudoautosomal region

The paper identifies cis- and trans-acting factors that drive meiotic DNA break formation in the mouse pseudoautosomal region, revealing structural and molecular mechanisms essential for recombination and segregation.

Mechanistic insight into crossing over during mouse meiosis

The paper investigates meiotic crossover mechanisms in mice by analyzing heteroduplex DNA in Msh2-/- mutants, finding MSH2-independent correction and biased crossover resolution.

53BP1 nuclear body-marked replication stress in a human mammary cell model of BRCA2 deficiency

The paper investigates replication stress and 53BP1 nuclear body formation in BRCA2-deficient human mammary cells, showing their link to G1 arrest and genome instability.

Control of meiotic double-strand-break formation by ATM: local and global views

This paper reviews ATM's role in regulating meiotic DSB numbers and distribution, discussing its evolutionary conservation and future research directions.

Shu complex SWS1-SWSAP1 is required for mouse meiotic recombination in concert with the BRCA2 C terminus

This study shows that the mouse SWS1-SWSAP1 complex is essential for meiotic recombination by promoting RAD51 and DMC1 focus formation, with BRCA2 C terminus playing a modulatory role.

Genomic and chromatin features shaping meiotic double-strand break formation and repair in mice

This study investigates the genomic and chromatin features influencing meiotic DSB formation and repair in mice, identifying roles for PRDM9 and ATM in hotspot activity and recombination outcomes.

Local and sex-specific biases in crossover vs. noncrossover outcomes at meiotic recombination hotspots in mouse

This study examines sex-specific differences in meiotic recombination outcomes at two mouse hotspots, finding sex-specific biases in crossover formation and showing DSB frequency is not the sole determinant of crossover frequency.