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Maria Jasin
Memorial Sloan Kettering Cancer Center
215Publications
76H-index
20.4kCitations
Publications 215
Newest
Published on Apr 15, 2019in bioRxiv
Edwige B. Garcin4
Estimated H-index: 4
(Aix-Marseille University),
Stéphanie Gon3
Estimated H-index: 3
(Aix-Marseille University)
+ 10 AuthorsSonja Eberth3
Estimated H-index: 3
(Leibniz Association)
Deficiency in several of the classical human RAD51 paralogs [RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3] is associated with cancer predisposition and Fanconi anemia. To investigate their functions, isogenic disruption mutants for each were generated in non-transformed MCF10A mammary epithelial cells and in transformed U2OS and HEK293 cells. In U2OS and HEK293 cells, viable ablated clones were readily isolated for each RAD51 paralog; in contrast, with the exception of RAD51B, RAD51 paralogs are cell...
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Published on Apr 1, 2019in Cell Reports 8.03
Wei-Feng Yen4
Estimated H-index: 4
,
Rahul Sharma1
Estimated H-index: 1
+ 14 AuthorsMaryaline Coffre6
Estimated H-index: 6
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Published on Apr 1, 2019in DNA Repair 4.46
Robert A. Baldock5
Estimated H-index: 5
(University of Pittsburgh),
Catherine A. Pressimone1
Estimated H-index: 1
(University of Pittsburgh)
+ 12 AuthorsRohit Prakash4
Estimated H-index: 4
(Memorial Sloan Kettering Cancer Center)
Abstract The proficiency of cancer cells to repair DNA double-strand breaks (DSBs) by homologous recombination (HR) is a key determinant in predicting response to targeted therapies such as PARP inhibitors. The RAD51 paralogs work as multimeric complexes and act downstream of BRCA1 to facilitate HR. Numerous epidemiological studies have linked RAD51 paralog mutations with hereditary cancer predisposition. Despite their substantial links to cancer, RAD51 paralog HR function has remained elusive. ...
1 Citations Source Cite
Published on Jan 31, 2019in bioRxiv
Laurent Acquaviva2
Estimated H-index: 2
(Memorial Sloan Kettering Cancer Center),
Michiel Boekhout2
Estimated H-index: 2
(Memorial Sloan Kettering Cancer Center)
+ 7 AuthorsScott Keeney47
Estimated H-index: 47
(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...
3 Citations Source Cite
Published on Dec 1, 2018in Nature Communications 12.35
Sarai Pacheco5
Estimated H-index: 5
(Autonomous University of Barcelona),
Andros Maldonado-Linares2
Estimated H-index: 2
(Autonomous University of Barcelona)
+ 9 AuthorsOscar Fernandez-Capetillo40
Estimated H-index: 40
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...
5 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 Jasin76
Estimated H-index: 76
(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 Jasin76
Estimated H-index: 76
(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 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 Jasin76
Estimated H-index: 76
(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 ...
21 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 Jasin76
Estimated H-index: 76
(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
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