Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation

Palis, 2014, Primitive and definitive erythropoiesis in mammals, Front Physiol, 5, 3, 10.3389/fphys.2014.00003 Ji, 2011, Formation of mammalian erythrocytes: chromatin condensation and enucleation, Trends Cell Biol, 21, 409, 10.1016/j.tcb.2011.04.003 Gautier, 2020, Comprehensive proteomic analysis of murine terminal erythroid differentiation, Blood Adv, 4, 1464, 10.1182/bloodadvances.2020001652 Roy, 2019, The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I, Br J Haematol, 185, 436, 10.1111/bjh.15817 Shalev, 2017, Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I, Eur J Haematol, 98, 13, 10.1111/ejh.12778 Renella, 2011, Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts, Blood, 117, 6928, 10.1182/blood-2010-09-308478 Heimpel, 2006, Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation, Blood, 107, 334, 10.1182/blood-2005-01-0421 Dgany, 2002, Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1, Am J Hum Genet, 71, 1467, 10.1086/344781 Ask, 2012, Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply, EMBO J, 31, 2013, 10.1038/emboj.2012.55 Couch, 2019, Human erythroblasts with c-Kit activating mutations have reduced cell culture costs and remain capable of terminal maturation, Exp Hematol, 74, 10.1016/j.exphem.2019.04.001 Gautier, 2016, Comprehensive proteomic analysis of human erythropoiesis, Cell Rep, 16, 1470, 10.1016/j.celrep.2016.06.085 Hu, 2013, Isolation and functional characterization of human erythroblasts at distinct stages: implications for understanding of normal and disordered erythropoiesis in vivo, Blood, 121, 3246, 10.1182/blood-2013-01-476390 McGrath, 2017, Delineating stages of erythropoiesis using imaging flow cytometry, Methods, 112, 68, 10.1016/j.ymeth.2016.08.012 Kim, 2015, Assaying cell cycle status using flow cytometry, Curr Protoc Mol Biol, 111, 28.6.1, 10.1002/0471142727.mb2806s111 Myers, 2020, The histone methyltransferase Setd8 alters the chromatin landscape and regulates the expression of key transcription factors during erythroid differentiation, Epigenet Chromatin, 13, 1, 10.1186/s13072-020-00337-9 An, 2014, Global transcriptome analyses of human and murine terminal erythroid differentiation, Blood, 123, 3466, 10.1182/blood-2014-01-548305 Wickramasinghe, 2005, Advances in the understanding of the congenital dyserythropoietic anaemias, Br J Haematol, 131, 431, 10.1111/j.1365-2141.2005.05757.x Noy-Lotan, 2009, Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated, Haematologica, 94, 629, 10.3324/haematol.2008.003327 Resnitzky, 2017, Morphological features of congenital dyserythropoietic anemia type: I. The role of electron microscopy in diagnosis, Eur J Haematol., 99, 366, 10.1111/ejh.12931 Avvakumov, 2011, Histone chaperones: modulators of chromatin marks, Mol Cell, 41, 502, 10.1016/j.molcel.2011.02.013 Huang, 2018, The histone chaperone ASF1 regulates the activation of ATM and DNA-PKcs in response to DNA double-strand breaks, Cell Cycle, 17, 1413, 10.1080/15384101.2018.1486165 Conrad, 2012, The MOF chromobarrel domain controls genome-wide H4K16 acetylation and spreading of the MSL complex, Dev Cell, 22, 610, 10.1016/j.devcel.2011.12.016 Alloisio, 1982, Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II, Pediatr Res, 16, 1016, 10.1203/00006450-198212000-00010 Tamary, 1996, Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I, Blood, 87, 1763, 10.1182/blood.V87.5.1763.1763 Wickramasinghe, 1986, Studies of erythroblast function in congenital dyserythropoietic anaemia, type I: evidence of impaired DNA, RNA, and protein synthesis and unbalanced globin chain synthesis in ultrastructurally abnormal cells, J Clin Pathol, 39, 881, 10.1136/jcp.39.8.881 Kuleshov, 2016, Enrichr: a comprehensive gene set enrichment analysis web server 2016 update, Nucleic Acids Res, 44, W90, 10.1093/nar/gkw377 Moreno-Mateos, 2015, CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo, Nat Methods, 12, 982, 10.1038/nmeth.3543 Gundry, 2016, Highly efficient genome editing of murine and human hematopoietic progenitor cells by CRISPR/Cas9, Cell Rep, 17, 1453, 10.1016/j.celrep.2016.09.092 Giarratana, 2011, Proof of principle for transfusion of in vitro-generated red blood cells, Blood, 118, 5071, 10.1182/blood-2011-06-362038