A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition

Nature Medicine

Volumn 22, Issue 9, 2016, Pages 987-990

  Traxler, Elizabeth A ^a,b   Yao, Yu ^a   Wang, Yong Dong ^a   Woodard, Kaitly J ^a   Kurita, Ryo ^c   Nakamura, Yukio ^c,d   Hughes, Jim R ^e   Hardison, Ross C ^f   Blobel, Gerd A ^g   Li, Chunliang ^a   Weiss, Mitchell J ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c RIKEN BIORESOURCE CENTER   (Japan)

^d UNIVERSITY OF TSUKUBA   (Japan)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f PENNSYLVANIA STATE UNIVERSITY   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; GENOMIC DNA; GUIDE RNA; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN F; HEMOGLOBIN GAMMA CHAIN; HEMOGLOBIN SUBUNIT GAMMA 1; HEMOGLOBIN SUBUNIT GAMMA 2; LENTIVIRUS VECTOR; MESSENGER RNA; UNCLASSIFIED DRUG; HEMOGLOBIN A;

ARTICLE; BETA THALASSEMIA; CASE REPORT; COMPARATIVE STUDY; CONTROLLED STUDY; CRISPR CAS SYSTEM; CRISPR CAS9 SYSTEM; DNA END JOINING REPAIR; DNA MODIFICATION; DOUBLE STRANDED DNA BREAK; ERYTHROCYTE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; HUMAN GENOME; IN VITRO STUDY; INTERNAL RIBOSOME ENTRY SITE; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; REGULATOR GENE; RNA SEQUENCE; SICKLE CELL ANEMIA; THERAPY EFFECT; ANEMIA, SICKLE CELL; BETA-THALASSEMIA; ERYTHROID PRECURSOR CELL; GENE EDITING; GENETICS; METABOLISM; MUTATION; PROCEDURES; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS;

ANEMIA, SICKLE CELL; BETA-GLOBINS; BETA-THALASSEMIA; CRISPR-CAS SYSTEMS; ERYTHROID PRECURSOR CELLS; FETAL HEMOGLOBIN; GAMMA-GLOBINS; GENE EDITING; HEMOGLOBIN A; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PROMOTER REGIONS, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84982181938     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.4170     Document Type: Article

References (21)

1. Forget, B.G. Ann. NY Acad. Sci. 850, 38-44 (1998).
2. Wienert, B. et al. Nat. Commun. 6, 7085 (2015).
3. Gilman, J.G. et al. Nucleic Acids Res. 16, 10635-10642 (1988).
4. Liberati, C. et al. J. Biol. Chem. 276, 41700-41709 (2001).
5. Zhu, X. et al. PLoS One 7, e47175 (2012).
6. Ronchi, A.E., Bottardi, S., Mazzucchelli, C., Ottolenghi, S. & Santoro, C. J. Biol. Chem. 270, 21934-21941 (1995).
7. Superti-Furga, G., Barberis, A., Schaffner, G. & Busslinger, M. EMBO J. 7, 3099-3107 (1988).
8. Mantovani, R., Superti-Furga, G., Gilman, J. & Ottolenghi, S. Nucleic Acids Res. 17, 6681-6691 (1989).
9. Hoban, M.D., Orkin, S.H. & Bauer, D.E. Blood 127, 839-848 (2016).
10. Doudna, J.A. & Charpentier, E. Science 346, 1258096 (2014).
11. Kurita, R. et al. PLoS One 8, e59890 (2013).
12. Palstra, R.J., de Laat, W. & Grosveld, F. Adv. Genet. 61, 107-142 (2008).
13. Akinsheye, I. et al. Blood 118, 19-27 (2011).
14. Kidoguchi, K., Ogawa, M., Karam, J.D. & Martin, A.G. Blood 52, 1115-1124 (1978).
15. Stamatoyannopoulos, G. Exp. Hematol. 33, 259-271 (2005).
16. Truong, L.N. et al. Proc. Natl. Acad. Sci. USA 110, 7720-7725 (2013).
17. Tanabe, O. et al. EMBO J. 21, 3434-3442 (2002).
18. Hoban, M.D. et al. Blood 125, 2597-2604 (2015).
19. Deng, W. et al. Cell 158, 849-860 (2014).
20. Canver, M.C. et al. Nature 527, 192-197 (2015).
21. de Vasconcellos, J.F. et al. PLoS One 9, e106924 (2014).