Maria Jasin
Memorial Sloan Kettering Cancer Center
214Publications
77H-index
20kCitations
Publications 214
Newest
Published on Jan 31, 2019in bioRxiv
Laurent Acquaviva1
Estimated H-index: 1
(Memorial Sloan Kettering Cancer Center),
Michiel Boekhout1
Estimated H-index: 1
(Memorial Sloan Kettering Cancer Center)
+ 7 AuthorsScott Keeney46
Estimated H-index: 46
(Memorial Sloan Kettering Cancer Center)
Sex chromosomes in males share only a diminutive homologous segment, the pseudoautosomal region (PAR), wherein meiotic double-strand breaks (DSBs), pairing, and crossing over must occur for correct segregation. How cells ensure PAR recombination is unknown. Here we delineate cis- and trans-acting factors that control PAR ultrastructure and make the PAR the hottest area of DSB formation in the male mouse genome. Prior to DSB formation, PAR chromosome axes elongate, sister chromatids separate, and...
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Published on Dec 1, 2018in Nature Communications 12.35
Sarai Pacheco4
Estimated H-index: 4
(Autonomous University of Barcelona),
Andros Maldonado-Linares2
Estimated H-index: 2
(Autonomous University of Barcelona)
+ 9 AuthorsOscar Fernandez-Capetillo41
Estimated H-index: 41
Precise execution of recombination during meiosis is essential for forming chromosomally-balanced gametes. Meiotic recombination initiates with the formation and resection of DNA double-strand breaks (DSBs). Cellular responses to meiotic DSBs are critical for efficient repair and quality control, but molecular features of these remain poorly understood, particularly in mammals. Here we report that the DNA damage response protein kinase ATR is crucial for meiotic recombination and completion of m...
4 Citations Source Cite
Published on May 19, 2018in Cell Cycle 3.30
Agnieszka Lukaszewicz1
Estimated H-index: 1
(Memorial Sloan Kettering Cancer Center),
Julian Lange12
Estimated H-index: 12
(Memorial Sloan Kettering Cancer Center)
+ 1 AuthorsMaria Jasin77
Estimated H-index: 77
(Memorial Sloan Kettering Cancer Center)
ABSTRACTDNA double-strand breaks (DSBs) generated by the SPO11 protein initiate meiotic recombination, an essential process for successful chromosome segregation during gametogenesis. The activity of SPO11 is controlled by multiple factors and regulatory mechanisms, such that the number of DSBs is limited and DSBs form at distinct positions in the genome and at the right time. Loss of this control can affect genome integrity or cause meiotic arrest by mechanisms that are not fully understood. He...
2 Citations Source Cite
Published on Aug 1, 2018in Nature 41.58
Dieter Egli34
Estimated H-index: 34
(Columbia University),
Michael V. Zuccaro1
Estimated H-index: 1
(Columbia University)
+ 3 AuthorsMaria Jasin77
Estimated H-index: 77
(Memorial Sloan Kettering Cancer Center)
Many human diseases have an underlying genetic component. The development and application of methods to prevent the inheritance of damaging mutations through the human germline could have significant health benefits, and currently include preimplantation genetic diagnosis and carrier screening. Ma et al. take this a step further by attempting to remove a disease mutation from the human germline through gene editing (1). They assert the following advances: (i) the correction of a pathogenic gene ...
18 Citations Source Cite
Published on Dec 1, 2018in Nature Communications 12.35
Carla M. Abreu2
Estimated H-index: 2
(Memorial Sloan Kettering Cancer Center),
Rohit Prakash4
Estimated H-index: 4
(Memorial Sloan Kettering Cancer Center)
+ 3 AuthorsMaria Jasin77
Estimated H-index: 77
(Memorial Sloan Kettering Cancer Center)
The DNA-damage repair pathway homologous recombination (HR) requires factors that promote the activity of strand-exchange protein RAD51 and its meiosis-specific homolog DMC1. Here we show that the Shu complex SWS1-SWSAP1, a candidate for one such HR regulator, is dispensable for mouse viability but essential for male and female fertility, promoting the assembly of RAD51 and DMC1 on early meiotic HR intermediates. Only a fraction of mutant meiocytes progress to form crossovers, which are crucial ...
3 Citations Source Cite
Published on Nov 5, 2018in bioRxiv
Weiran Feng4
Estimated H-index: 4
(Memorial Sloan Kettering Cancer Center),
Maria Jasin77
Estimated H-index: 77
(Memorial Sloan Kettering Cancer Center)
BRCA2 deficiency causes genome instability and breast and ovarian cancer predisposition, but also paradoxically promotes cell lethality. The nature of the acute, detrimental consequences of BRCA2 loss is not fully understood. We recently generated BRCA2 conditional models from a non-transformed human mammary cell line, through allele-specific gene targeting using CRISPR-Cas9, which we now describe. With these models, we discovered that BRCA2 deficiency triggers a DNA under replication-53BP1 nucl...
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Published on Apr 1, 2017in Molecular Cancer Research 4.60
Rohit Prakash4
Estimated H-index: 4
(Memorial Sloan Kettering Cancer Center),
Carla M. Abreu2
Estimated H-index: 2
(Memorial Sloan Kettering Cancer Center)
+ 1 AuthorsMaria Jasin77
Estimated H-index: 77
(Memorial Sloan Kettering Cancer Center)
Homologous recombination (HR), also termed homology-directed repair, is a major pathway for the repair of DNA double-strand breaks (DSBs) generated by DNA damaging agents, replication fork collapse and during meiosis. Failure to repair DSBs correctly causes genomic instability, leading to mutagenesis, and developmental defects. Moreover, defects in HR impact the response to many therapeutics. Components of the HR machinery include BRCA2 and five RAD51 paralogs, which are critical for RAD51 assem...
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Published on Dec 22, 2017in bioRxiv
Carla M. Abreu2
Estimated H-index: 2
(Memorial Sloan Kettering Cancer Center),
Rohit Prakash4
Estimated H-index: 4
(Memorial Sloan Kettering Cancer Center)
+ 3 AuthorsMaria Jasin77
Estimated H-index: 77
(Memorial Sloan Kettering Cancer Center)
Homology recognition and DNA-strand invasion ensure faithful homolog pairing and segregation during the first meiotic division. RAD51 and DMC1 recombinases catalyze these steps, with BRCA2 promoting their assembly into nuclear foci. The recently identified human SWS1-SWSAP1 complex, related to the Shu complex in yeast, promotes RAD51 focus formation in cell lines. We show here that mouse SWS1-SWSAP1 is critical for meiotic homologous recombination (HR) by promoting the assembly of RAD51 and DMC1...
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Published on Apr 1, 2017in Molecular Cancer Research 4.60
Fabio Vanoli11
Estimated H-index: 11
(Memorial Sloan Kettering Cancer Center),
Shuhei Ito13
Estimated H-index: 13
(Kyushu University)
+ 3 AuthorsMaria Jasin77
Estimated H-index: 77
(Memorial Sloan Kettering Cancer Center)
Poly(ADP-ribose) polymerases (PARPs) are the first proteins involved in cellular DNA damage response pathways to be targeted by specific inhibitors for clinical benefit. Tumors with defects in homologous recombination (HR) are hypersensitive to PARP inhibitors (PARPi), and early phase clinical trials have been promising in patients with advanced BRCA1 and BRCA2-associated breast, ovary and prostate cancer. Unlike HR-defective cells, HR-proficient cells manifest low cytotoxicity when exposed to P...
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