CRISPR/Cas9-Directed Reassignment of the GATA1 Initiation Codon in K562 Cells to Recapitulate AML in Down Syndrome

Mitelman, 1990, Trisomy 21 in neoplastic cells, Am. J. Med. Genet. Suppl., 7, 262 Zipursky, 1992, Leukemia in Down syndrome: a review, Pediatr. Hematol. Oncol., 9, 139, 10.3109/08880019209018329 Hasle, 2003, A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases, Leukemia, 17, 277, 10.1038/sj.leu.2402765 Wechsler, 2002, Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome, Nat. Genet., 32, 148, 10.1038/ng955 Greene, 2003, Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome, Blood Cells Mol. Dis., 31, 351, 10.1016/j.bcmd.2003.08.001 Kaneko, 2012, N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program, J. Biol. Chem., 287, 21439, 10.1074/jbc.M112.370437 Gruber, 2015, The biology of pediatric acute megakaryoblastic leukemia, Blood, 126, 943, 10.1182/blood-2015-05-567859 Yoshida, 2013, The landscape of somatic mutations in Down syndrome-related myeloid disorders, Nat. Genet., 45, 1293, 10.1038/ng.2759 Ran, 2013, Genome engineering using the CRISPR-Cas9 system, Nat. Protoc., 8, 2281, 10.1038/nprot.2013.143 Sánchez-Rivera, 2015, Applications of the CRISPR-Cas9 system in cancer biology, Nat. Rev. Cancer, 15, 387, 10.1038/nrc3950 Shrivastav, 2008, Regulation of DNA double-strand break repair pathway choice, Cell Res., 18, 134, 10.1038/cr.2007.111 Xu, 2015, Both TALENs and CRISPR/Cas9 directly target the HBB IVS2-654 (C > T) mutation in β-thalassemia-derived iPSCs, Sci. Rep., 5, 12065, 10.1038/srep12065 Schumann, 2015, Generation of knock-in primary human T cells using Cas9 ribonucleoproteins, Proc. Natl. Acad. Sci. USA, 112, 10437, 10.1073/pnas.1512503112 Cho, 2013, Targeted genome engineering in human cells with the Cas9 RNA-guided endonuclease, Nat. Biotechnol., 31, 230, 10.1038/nbt.2507 Xue, 2014, CRISPR-mediated direct mutation of cancer genes in the mouse liver, Nature, 514, 380, 10.1038/nature13589 Canver, 2015, BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis, Nature, 527, 192, 10.1038/nature15521 DeWitt, 2016, Efficient correction of the sickle mutation in human hematopoietic stem cells using a Cas9 ribonucleoprotein complex, BioRxiv Li, 2016, Efficient CRISPR-Cas9 mediated gene disruption in primary erythroid progenitor cells, Haematologica, 101, e216, 10.3324/haematol.2015.135723 Xie, 2014, Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac, Genome Res., 24, 1526, 10.1101/gr.173427.114 Song, 2015, Improved hematopoietic differentiation efficiency of gene-corrected beta-thalassemia induced pluripotent stem cells by CRISPR/Cas9 system, Stem Cells Dev., 24, 1053, 10.1089/scd.2014.0347 Hsu, 2013, DNA targeting specificity of RNA-guided Cas9 nucleases, Nat. Biotechnol., 31, 827, 10.1038/nbt.2647 Maeder, 2013, Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins, Nat. Biotechnol., 31, 1137, 10.1038/nbt.2726 Brinkman, 2014, Easy quantitative assessment of genome editing by sequence trace decomposition, Nucleic Acids Res., 42, e168, 10.1093/nar/gku936 Bialk, 2015, Regulation of gene editing activity directed by single-stranded oligonucleotides and CRISPR/Cas9 systems, PLoS ONE, 10, e0129308, 10.1371/journal.pone.0129308 Cong, 2013, Multiplex genome engineering using CRISPR/Cas systems, Science, 339, 819, 10.1126/science.1231143 Naumann, 2001, Complete karyotype characterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluorescence in situ hybridization, and comparative genomic hybridization, Leuk. Res., 25, 313, 10.1016/S0145-2126(00)00125-9 Rainis, 2003, Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21, Blood, 102, 981, 10.1182/blood-2002-11-3599 Calligaris, 1995, Alternative translation initiation site usage results in two functionally distinct forms of the GATA-1 transcription factor, Proc. Natl. Acad. Sci. USA, 92, 11598, 10.1073/pnas.92.25.11598 Hitzler, 2007, Acute megakaryoblastic leukemia in Down syndrome, Pediatr. Blood Cancer, 49, 1066, 10.1002/pbc.21353 Malinge, 2009, Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome, Blood, 113, 2619, 10.1182/blood-2008-11-163501 Yin, 2014, Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype, Nat. Biotechnol., 32, 551, 10.1038/nbt.2884 Halsey, 2010, Role of GATA-1s in early hematopoiesis and differences between alternative splicing in human and murine GATA-1, Blood, 115, 3415, 10.1182/blood-2010-02-267930 Kanezaki, 2010, Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia, Blood, 116, 4631, 10.1182/blood-2010-05-282426 Reeder, 2010, Once- versus twice-weekly bortezomib induction therapy with CyBorD in newly diagnosed multiple myeloma, Blood, 115, 3416, 10.1182/blood-2010-02-271676 Carrel, 2005, X-inactivation profile reveals extensive variability in X-linked gene expression in females, Nature, 434, 400, 10.1038/nature03479 Kozak, 1984, Point mutations close to the AUG initiator codon affect the efficiency of translation of rat preproinsulin in vivo, Nature, 308, 241, 10.1038/308241a0 De Angioletti, 2004, Beta+45 G → C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence, Br. J. Haematol., 124, 224, 10.1046/j.1365-2141.2003.04754.x