Palabras clave:
Modificación genética, ADN recombinante, Transgénesis, Edición genética, CRISPR-CasResumen
La modificación del genoma humano a voluntad es una idea que ronda a los investigadores desde los años 70 del siglo pasado. Tras la aparición de las primeras técnicas de ingeniería genética y los sucesivos métodos de transgénesis que fueron desarrollándose posteriormente siempre estuvo presente el anhelo o temor de poder modificar el ADN humano. Sin embargo esto no se pudo constatar hasta 2013, con la aparición de las herramientas de edición genética CRISPR?Cas, que facilitaron y universalizaron los procedimientos de alteración genética dirigida, sobre genes específicos.
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ANGRIST, M., BARRANGOU, R., BAYLIS, F., BROKOWSKI, C., BURGIO, G., CAPLAN, A., CHAPMAN, C.R., CHURCH, G.M., COOK-DEEGAN, R., CWIK, B., DOUDNA, J.A., EVANS, J.H., GREELY, H.T., HERCHER, L., HURLBUT, J.B., HYNES, R.O., ISHII, T., KIANI, S., LEE, L.H., ... DAVIES, K. (2020). Reactions to the National Academies/Royal Society Report on Heritable Human Genome Editing. The CRISPR Journal, 3(5), 332–349. https://doi.org/10.1089/crispr.2020.29106.man
ANZALONE, A.V., KOBLAN, L.W. Y LIU, D.R. (2020). Genome editing with CRISPR-Cas nucleases, base editors, transposases and prime editors. Nature Biotechnology, 38(7), 824–844. https://doi.org/10.1038/s41587-020-0561-9
BAYLIS, F. (2020) To publish or not to publish. Nat Biotechno, 38(3), 271. https://doi.org/10.1038/s41587-020-0435-1
BERG, P. (2008). Asilomar 1975: DNA modification secured. Nature, 455, 290–291. https://doi.org/10.1038/455290a
CHAN, A.W.S., CHONG, K.Y., MARTINOVICH, C., SIMERLY, C. Y SCHATTEN, G. (2001). Transgenic monkeys produced by retroviral gene transfer into mature oocytes. Science, 291(5502), 309–312. https://doi.org/10.1126/science.291.5502.309
CONG, L., RAN, F.A., COX, D., LIN, S., BARRETTO, R., HABIB, N., HSU, P.D., WU, X., JIANG, W., MARRAFFINI, L.A. Y ZHANG, F. (2013). Multiplex genome engineering using CRISPR/Cas systems. Science, 339(6121), 819–823. https://doi.org/10.1126/science.1231143
DIÉGUEZ, A. (2017). Transhumanismo. La búsqueda tecnológica del mejoramiento humano. Herder Editorial.
DOETSCHMAN, T., GREGG, R.G., MAEDA, N., HOOPER, M.L., MELTON, D.W., THOMPSON, S. Y SMITHIES, O. (1987). Targetted correction of a mutant HPRT gene in mouse embryonic stem cells. Nature, 330(6148), 576–578. https://doi.org/10.1038/330576a0
DOUDNA, J.A. (2020). The promise and challenge of therapeutic genome editing. Nature, 578(7794), 229–236. https://doi.org/10.1038/s41586-020-1978-5
EVANS, M.J. Y KAUFMAN, M.H. (1981). Establishment in culture of pluripotential cells from mouse embryos. Nature, 292(5819), 154–156. https://doi.org/10.1038/292154a0
FINN, J.D., SMITH, A.R., PATEL, M.C., SHAW, L., YOUNISS, M.R., VAN HETEREN, J., DIRSTINE, T., CIULLO, C., LESCARBEAU, R., SEITZER, J., SHAH, R.R., SHAH, A., LING, D., GROWE, J., PINK, M., ROHDE, E., WOOD, K.M., SALOMON, W.E., HARRINGTON, W.F., … MORRISSEY, D.V. (2018). A Single Administration of CRISPR/Cas9 Lipid Nanoparticles Achieves Robust and Persistent In Vivo Genome Editing. Cell Rep., 22(9), 2227–2235. https://doi.org/10.1016/j.celrep.2018.02.014
FOGARTY, N.M.E., MCCARTHY, A., SNIJDERS, K.E., POWELL, B.E., KUBIKOVA, N., BLAKELEY, P., LEA, R., ELDER, K., WAMAITHA, S.E., KIM, D., MACIULYTE, V., KLEINJUNG, J., KIM, J., WELLS, D., VALLIER, L., BERTERO, A., TURNER, J.M.A., Y NIAKAN, K.K. (2017). Genome editing reveals a role for OCT4 in human embryogenesis. Nature, 550(7674), 67–73. https://doi.org/10.1038/nature24033
FRANGOUL, H., ALTSHULER, D., CAPPELLINI, D., CHEN, Y., DOMM, J., EUSTACE, B.K., FOELL, J., DE LA FUENTE, J., GRUPP, S., HANDGRETINGER, R., HO, T.W., KATTAMIS, A., KERNYTSKY, A., LEKSTROM-HIMES, J., LI, A.M., LOCATELLI, F., MAPARA, M.Y., DE MONTALEMBERT, M., RONDELLI, D., ... CORBACIOGLU, S. (2021). CRISPR-Cas9 Gene Editing for Sickle Cell Disease and ?-Thalassemia. The New England Journal of Medicine, 384(3), 252–260. https://doi.org/10.1056/NEJMoa2031054
GILLMORE, J.D., GANE, E., TAUBEL, J., KAO, J., FONTANA, M., MAITLAND, M.L., SEITZER, J., O’CONNELL, D., WALSH, K.R., WOOD, K., PHILLIPS, J., XU, Y., AMARAL, A., BOYD, A.P., CEHELSKY, J.E., MCKEE, M.D., SCHIERMEIER, A., HARARI, O. MURPHY, A., ... LEBWOHL, D. (2021). CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. The New England Journal of Medicine, 385(6), 493–502. https://doi.org/10.1056/NEJMoa2107454
GORDON, J.W. Y RUDDLE, F.H. (1982). Germ line transmission in transgenic mice. Progress in Clinical and Biological Research, 85(Pt B), 111–124.
GORDON, J.W., SCANGOS, G.A., PLOTKIN, D.J., BARBOSA, J.A. Y RUDDLE, F.H. (1980). Genetic transformation of mouse embryos by microinjection of purified DNA. Proceedings of the National Academy of Sciences of the United States of America, 77(12), 7380–7384. https://doi.org/10.1073/pnas.77.12.7380
JAENISCH, R. (1976). Germ line integration and Mendelian transmission of the exogenous Moloney leukemia virus. Proceedings of the National Academy of Sciences of the United States of America, 73(4), 1260–1264. https://doi.org/10.1073/pnas.73.4.1260
JAENISCH, R., FAN, H. Y CROKER, B. (1975). Infection of preimplantation mouse embryos and of newborn mice with leukemia virus: tissue distribution of viral DNA and RNA and leukemogenesis in the adult animal. Proceedings of the National Academy of Sciences of the United States of America, 72(10), 4008–4012. https://doi.org/10.1073/pnas.72.10.4008
JAENISCH, R. Y MINTZ, B. (1974). Simian virus 40 DNA sequences in DNA of healthy adult mice derived from preimplantation blastocysts injected with viral DNA. Proceedings of the National Academy of Sciences of the United States of America, 71(4), 1250–1254. https://doi.org/10.1073/pnas.71.4.1250
JINEK, M., CHYLINSKI, K., FONFARA, I., HAUER, M., DOUDNA, J.A. Y CHARPENTIER, E. (2012). A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science, 337(6096), 816–821. https://doi.org/10.1126/science.1225829
KOBLAN, L.W., ERDOS, M.R., WILSON, C., CABRAL, W.A., LEVY, J.M., XIONG, Z.M., TAVAREZ, U.L., DAVISON, L.M., GETE, Y.G., MAO, X., NEWBY, G.A., DOHERTY, S.P., NARISU, N., SHENG, Q., KRILOW, C., LIN, C.Y., GORDON, L.B., CAO, K., COLLINS, F.S., ... LIU, D.R. (2021). In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice. Nature, 589(7843), 608–614. https://doi.org/10.1038/s41586-020-03086-7
KOSICKI, M., TOMBERG, K. Y BRADLEY, A. (2018). Repair of double-strand breaks induced by CRISPR-Cas9 leads to large deletions and complex rearrangements. Nature Biotechnology, 36(8), 765–771. https://doi.org/10.1038/nbt.4192
LEDFORD, H. (2020). CRISPR gene editing in human embryos wreaks chromosomal mayhem. Nature, 583(7814), 17–18. https://doi.org/10.1038/d41586-020-01906-4
LIANG, P., XU, Y., ZHANG, X., DING, C., HUANG, R., ZHANG, Z., LV, J., XIE, X., CHEN, Y., LI, Y., SUN, Y., BAI, Y., SONGYANG, Z., MA, W., ZHOU, C. Y HUANG, J. (2015). CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes. Protein Cell, 6(5), 363–372. https://doi.org/10.1007/s13238-015-0153-5
LIU, N., HARGREAVES, V.V., ZHU, Q., KURLAND, J.V., HONG, J., KIM, W., SHER, F., MACIAS-TREVINO, C., ROGERS, J.M., KURITA, R., NAKAMURA, Y., YUAN, G.C., BAUER, D.E., XU, J., BULYK, M.L. Y ORKIN, S.H. (2018). Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch. Cell, 173(2), 430–442. https://doi.org/10.1016/j.cell.2018.03.016
LIU, Z., CAI, Y., WANG, Y., NIE, Y., ZHANG, C., XU, Y., ZHANG, X., LU, Y., WANG, Z., POO, M. Y SUN, Q. (2018). Cloning of Macaque Monkeys by Somatic Cell Nuclear Transfer. Cell, 174(1), 245. https://doi.org/10.1016/j.cell.2018.01.036
MA, H., MARTI-GUTIERREZ, N., PARK, S.W., WU, J., LEE, Y., SUZUKI, K., KOSKI, A., JI, D., HAYAMA, T., AHMED, R., DARBY, H., VAN DYKEN, C., LI, Y., KANG, E., PARK, A.R., KIM, D., KIM, S.T., GONG, J., GU, Y., ... MITALIPOV, S. (2017). Correction of a pathogenic gene mutation in human embryos. Nature, 548(7668), 413–419. https://doi.org/10.1038/nature23305
MAEDER, M.L., STEFANIDAKIS, M., WILSON, C.J., BARAL, R., BARRERA, L.A., BOUNOUTAS, G.S., BUMCROT, D., CHAO, H., CIULLA, D.M., DASILVA, J.A., DASS, A., DHANAPAL, V., FENNELL, T.J., FRIEDLAND, A.E., GIANNOUKOS, G., GLOSKOWSKI, S.W., GLUCKSMANN, A., GOTTA, G.M., JAYARAM, H., ... JIANG, H. (2019). Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. Nature Medicine, 25(2), 229–233. https://doi.org/10.1038/s41591-018-0327-9
MALI, P., YANG, L., ESVELT, K.M., AACH, J., GUELL, M., DICARLO, J.E., NORVILLE, J.E. Y CHURCH, G.M. (2013). RNA-guided human genome engineering via Cas9. Science, 339(6121), 823-826. https://doi.org/10.1126/science.1232033
MOJICA, F.J.M. Y MONTOLIU, L. (2016). On the Origin of CRISPR-Cas Technology: From Prokaryotes to Mammals. Trends in Microbiology, 24(10), 811–820. https://doi.org/10.1016/j.tim.2016.06.005
MOJICA, F.J.M., DÍEZ-VILLASEÑOR, C., GARCÍA-MARTÍNEZ, J. Y SORIA, E. (2005). Intervening sequences of regularly spaced prokaryotic repeats derive from foreign genetic elements. Journal of Molecular Evolution, 60(2), 174–182. https://doi.org/10.1007/s00239-004-0046-3
MONTOLIU, L. (7 de noviembre de 2017). La otra cara de Dolly. Blog GenÉtica, en Naukas: https://montoliu.naukas.com/2017/11/07/la-otra-cara-de-dolly/
MONTOLIU, L. (2021). Editando genes: recorta, pega y colorea. Las maravillosas herramientas CRISPR (3ª edición). NextDoor Publishers.
MUSUNURU, K., CHADWICK, A.C., MIZOGUCHI, T., GARCIA, S.P., DENIZIO, J.E., REISS, C.W., WANG, K., IYER, S., DUTTA, C., CLENDANIEL, V., AMAONYE, M., BEACH, A., BERTH, K., BISWAS, S., BRAUN, M.C., CHEN, H.M., COLACE, T.V., GANEY, J.D., GANGOPADHYAY, S.A., ... KATHIRESAN, S. (2021). In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates. Nature, 593(7859), 429–434. https://doi.org/10.1038/s41586-021-03534-y
PALMITER, R.D. Y BRINSTER, R.L. (1986). Germ-line transformation of mice. Annual Review of Genetics, 20, 465–499. https://doi.org/10.1146/annurev.ge.20.120186.002341
PALMITER, R.D., BRINSTER, R.L., HAMMER, R.E., TRUMBAUER, M.E., ROSENFELD, M.G., BIRNBERG, N.C. Y EVANS, R.M. (1982). Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. Nature, 300(5893), 611–615. https://doi.org/10.1038/300611a0
RUAN, G.X., BARRY, E., YU, D., LUKASON, M., CHENG, S.H. Y SCARIA, A. (2017). CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. Molecular Therapy, 25(2), 331–341. https://doi.org/10.1016/j.ymthe.2016.12.006
SANKARAN, V.G., MENNE, T.F., XU, J., AKIE, T.E., LETTRE, G., VAN HANDEL, B., MIKKOLA, H.K., HIRSCHHORN, J.N., CANTOR, A.B. Y ORKIN, S.H. (2008). Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science, 322(5909), 1839–1842. https://doi.org/10.1126/science.1165409
SERUGGIA, D., Y MONTOLIU, L. (2014). The new CRISPR-Cas system: RNA-guided genome engineering to efficiently produce any desired genetic alteration in animals. Transgenic research, 23(5), 707–716. https://doi.org/10.1007/s11248-014-9823-y
SERUGGIA, D., FERNÁNDEZ, A., CANTERO, M., PELCZAR, P. Y MONTOLIU, L. (2015). Functional validation of mouse tyrosinase non-coding regulatory DNA elements by CRISPR-Cas9-mediated mutagenesis. Nucleic Acids Research, 43(10), 4855?4867.
https://doi.org/10.1093/nar/gkv375
STADTMAUER, E.A., FRAIETTA, J.A., DAVIS, M.M., COHEN, A.D., WEBER, K.L., LANCASTER, E., MANGAN, P.A., KULIKOVSKAYA, I., GUPTA, M., CHEN, F., TIAN, L., GONZALEZ, V.E., XU, J., JUNG, I.Y., MELENHORST, J.J., PLESA, G., SHEA, J., MATLAWSKI, T., CERVINI, A., ... JUNE, C.H. (2020). CRISPR-engineered T cells in patients with refractory cancer. Science, 367(6481), 7365. https://doi.org/10.1126/science.aba7365
TAKAHASHI, K. Y YAMANAKA, S. (2006). Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell, 126(4), 663–676. https://doi.org/10.1016/j.cell.2006.07.024
THOMSON, J.A., ITSKOVITZ-ELDOR, J., SHAPIRO, S.S., WAKNITZ, M.A., SWIERGIEL, J.J., MARSHALL, V.S. Y JONES, J.M. (1998). Embryonic stem cell lines derived from human blastocysts. Science, 282(5391), 1145-1147. https://doi.org/10.1126/science.282.5391.1145
WILMUT, I., SCHNIEKE, A.E., MCWHIR, J., KIND, A.J. Y CAMPBELL, K.H. (1997). Viable offspring derived from fetal and adult mammalian cells. Nature, 385(6619), 810–813. https://doi.org/10.1038/385810a0