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作者：Wilkinson, Max E.; Frangieh, Chris J.; Macrae, Rhiannon K.; Zhang, Feng
作者单位：Howard Hughes Medical Institute; Harvard University; Massachusetts Institute of Technology (MIT); Broad Institute; Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT)
摘要：Non-long terminal repeat (non-LTR) retrotransposons, or long interspersed nuclear elements (LINEs), are an abundant class of eukaryotic transposons that insert into genomes by target-primed reverse transcription (TPRT). During TPRT, a target DNA sequence is nicked and primes reverse transcription of the retrotransposon RNA. Here, we report the cryo-electron microscopy structure of the Bombyx mori R2 non-LTR retrotransposon initiating TPRT at its ribosomal DNA target. The target DNA sequence is...
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作者：Arbab, Mandana; Matuszek, Zaneta; Kray, Kaitlyn M.; Du, Ailing; Newby, Gregory A.; Blatnik, Anton J.; Raguram, Aditya; Richter, Michelle F.; Zhao, Kevin T.; Levy, Jonathan M.; Shen, Max W.; Arnold, W. David; Wang, Dan; Xie, Jun; Gao, Guangping; Burghes, Arthur H. M.; Liu, David R.
作者单位：Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Harvard University; Harvard Medical School; Harvard University; Massachusetts Institute of Technology (MIT); Broad Institute; Harvard University; Harvard University; University System of Ohio; Ohio State University; University of Massachusetts System; University of Massachusetts Worcester; UMass Chan Medical School; Massachusetts Institute of Technology (MIT); University System of Ohio; Ohio State University; University of Missouri System; University of Missouri Columbia; University of Massachusetts System; University of Massachusetts Worcester; UMass Chan Medical School; University of Massachusetts System; University of Massachusetts Worcester; UMass Chan Medical School; Harvard University; Howard Hughes Medical Institute
摘要：Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved therapies circumvent endogenous SMN regulation and require repeated dosing or may wane. We describe genome editing of SMN2, an insufficient copy of SMN1 harboring a C6>T mutation, to permanently restore SMN protein levels and rescue SMA phenotypes. We used nucleases or base editors to modify five SMN2 regulatory regions. ...
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作者：Service, Robert F.
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作者：Garisto, Daniel
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作者：Burkhardt, Pawel; Colgren, Jeffrey; Medhus, Astrid; Digel, Leonid; Naumann, Benjamin; Soto-Angel, Joan J.; Nordmann, Eva -Lena; Sachkova, Maria Y.; Kittelmann, Maike
作者单位：University of Bergen; University of Rostock; Oxford Brookes University
摘要：A fundamental breakthrough in neurobiology has been the formulation of the neuron doctrine by Santiago Ramon y Cajal, which stated that the nervous system is composed of discrete cells. Electron microscopy later confirmed the doctrine and allowed the identification of synaptic connections. In this work, we used volume electron microscopy and three-dimensional reconstructions to characterize the nerve net of a ctenophore, a marine invertebrate that belongs to one of the earliest-branching anima...
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作者：Lester, Richard; Tsai, Lily; Berger, Suzanne; Fisher, Peter; Fravel, M. Taylor; Goldston, David; Huang, Yasheng; Rus, Daniela
作者单位：Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT)
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作者：Brainard, Jeffrey
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作者：Gillum, David R.; Moritz, Rebecca L.; Schwartz, Antony
作者单位：Arizona State University; Arizona State University-Tempe; Colorado State University System; Colorado State University Fort Collins; Duke University
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作者：Insco, Megan L.; Abraham, Brian J.; Dubbury, Sara J.; Kaltheuner, Ines H.; Dust, Sofia; Wu, Constance; Chen, Kevin Y.; Liu, David; Bellaousov, Stanislav; Cox, Anna M.; Martin, Benjamin J. E.; Zhang, Tongwu; Ludwig, Calvin G.; Fabo, Tania; Modhurima, Rodsy; Esgdaille, Dakarai E.; Henriques, Telmo; Brown, Kevin M.; Chanock, Stephen J.; Geyer, Matthias; Adelman, Karen; Sharp, Phillip A.; Young, Richard A.; Boutz, Paul L.; Zon, Leonard I.
作者单位：Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Howard Hughes Medical Institute; Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Howard Hughes Medical Institute; Harvard University; Harvard University Medical Affiliates; Dana-Farber Cancer Institute; St Jude Children's Research Hospital; Massachusetts Institute of Technology (MIT); Massachusetts Institute of Technology (MIT); University of Bonn; University of Rochester; Harvard University; Harvard Medical School; National Institutes of Health (NIH) - USA; NIH National Cancer Institute (NCI); NIH National Cancer Institute- Division of Cancer Epidemiology & Genetics; Massachusetts Institute of Technology (MIT); Whitehead Institute; University of Rochester; University of Rochester
摘要：RNA surveillance pathways detect and degrade defective transcripts to ensure RNA fidelity. We found that disrupted nuclear RNA surveillance is oncogenic. Cyclin-dependent kinase 13 (CDK13) is mutated in melanoma, and patient-mutated CDK13 accelerates zebrafish melanoma. CDK13 mutation causes aberrant RNA stabilization. CDK13 is required for ZC3H14 phosphorylation, which is necessary and sufficient to promote nuclear RNA degradation. Mutant CDK13 fails to activate nuclear RNA surveillance, caus...
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作者：[Anonymous]
