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Zuccaro, M., Xu, J., Mitchell, C., Marin, D., Zimmerman R., Rana, B., Weinstein, E., King, R.T., Palmerola, K., Smith, M., Tsang, S., Goland R., Jasin, M., Lobo,R., Treff, N., Egli, D.* Allele-specific chromosome removal after Cas9 cleavage in human embryos. Cell 2020 Dec 10; 183(6):1650-64.e15. PMID:33125898

DNA repair in early human development

Discussion on heritable genome editing at the Columbia Alumni Association, with Sam Sternberg and Frances Onyimba. April 22, 2021. Recording is here.

Palmerola, K., Amrane, S., De Los Angeles, A., Xu, S., Wang, N., de Pinho, M., Zuccaro, M.V.,

Taglialatela, A., Massey, D., Robles, A., Prosser, B., Lobo, R., Ciccia, A., Koren, A., Baslan, T., .* Replication stress impairs chromosome segregation and preimplantation development in human embryos. Cell, 2022. PMID:35858625

Understanding diabetes and pancreatic development using pluripotent stem cells

González, B. J., Zhao, H., Niu, J., Williams, D. J., Lee, J., Goulbourne, C. N., Xing, Y., Wang, Y., Oberholzer, J., Blumenkrantz, M. H., Chen, X., Leduc, C. A., Chung, W. K., Colecraft, H. M., Gromada, J., Shen, Y., Goland, R. S., Leibel, R. L. & Egli, D.* 2022. Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. Commun Biol, 5, 779. PMID:35918471

Ma, S., Viola, R., Sui, L., Cherubini, V., Barbetti, F. Egli, D.* Beta cell replacement after gene editing of a neonatal diabetes-causing mutation at the insulin locus. Stem Cell Reports, 2018 Dec 11;11(6):1407-1415. PMID:30503261

Sui, L., Leibel, R.L., Egli, D.* Pancreatic beta cell differentiation from human pluripotent stem cells. Curr Protoc Hum Genet, 2018 Oct ;99(1):e68. doi: 10.1002/cphg.68.  PMID: 30192441

Shang, L., Hua, H., Foo, K., Martinez, H., Watanabe, K., Zimmer, M., Kahler, D., Freeby, M.,  Chung, W., LeDuc, C., Goland, R., Leibel, R., and Egli, D.*, Beta cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome. Diabetes, 2014 Mar; 63(3)923-33. PMID:24227685

Sui, L., Du, Q., Romer, A., Su, Q., Chabossau, P., Xin, Y., Kim, J., Kleiner, S., Rutter, G., & Egli, D. * 2023.  ZnT8 loss of function mutation increases resistance of human embryonic stem cell derived beta cells to apoptosis in low zinc condition. Cells. doi: 10.3390/cells12060903. PMID: 36980244

Sui, L., Xin, Y., Du, Q., Georgieva, D., Diedenhofen, G., Haataja, L., Su, Q., Zuccaro, M.V., Kim, J., Fu, J., Xing, Y., He, Y., Baum, D., Goland, R.S., Wang, Y., Oberholzer, J., Barbetti, F., Arvan, P., Kleiner, S. & Egli, D.* Reduced replication fork speed promotes pancreatic endocrine differentiation and controls graft size. JCI Insight, 2021 Feb 2; 5(5):e141553. PMID:33529174

Mechanisms of stable ploidy - haploid stem cells

Sagi, I., Chia, G., Golan-Lev, T., Peretz, M., Weissbein, U., Sui, L., Sauer, M.V., Yanuka, O., Egli, D*. Benvenisty, N*. Derivation and differentiation of haploid human embryonic stem cells (*co-corresponding and senior authors). Nature 2016 Mar16; 532: 107-111. PMID: 26982723

Haploid human pluripotent stem cells contain just 23 chromosomes and are useful for genetic screening.

Sagi, I., De Pinho, J.C., Zuccaro, M.V., Atzmon, C., Golan-Lev, T., Yanuka, O., Prosser, R., Sadowy, A., Perez, G., Cabral, T., Glaser, B., Tsang, S.H., Goland, R., Sauer, M.V., Lobo, R., Benvenisty, N., Egli, D.* Distinct imprinting signatures and biased differentiation of human androgenetic and parthenogenetic embryonic stem cells. Cell Stem Cell. 2019 Sept 5; 25(3):419-432. PMID:21491396

SCNT - therapeutic cloning for diabetes

Yamada, M., Johannesson, B., Sagi, I., Burnett, L.C., Kort, D.H., Prosser, R.W., Paull, D., Nestor, M.W., Freeby, M., Greenberg, E., Goland, R.S., Leibel, R.L., Solomon, S.L., Benvenisty, N., Sauer, M.V., Egli, D.* (2014), Human oocytes reprogram adult somatic nuclei of a type 1 diabetic to diploid pluripotent stem cells. Nature 2014 Jun 26; 510(7506), 533-6. PMID: 24776804

Sui L, Danzl N, Campbell SR, Viola R, Williams D, Xing Y, Wang Y, Phillips N, Poffenberger G, Johannesson B, Oberholzer J, Powers AC, Leibel RL, Chen X, Sykes M, Egli D*. Beta cell replacement in mice using human type 1 diabetes nuclear transfer embryonic stem cells. Diabetes. 2018 Jan;67(1):26-35. PMID: 28931519

Stem cells derived by somatic cell nuclear transfer are patient matched, and may provide a source of autologous cells for cell replacement. 

Somatic cell nuclear transfer involves the removal of the egg DNA (spindle), followed by the transfer of a the genome of a somatic cell (see video).

Mitochondrial replacement - preventing heritable disease

Paull, D., Emmanuele, V., Hirano, M., Sauer, M.,Egli, D*. Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature. 2013 Jan 31; 493(7434):632-7. PMID: 23254936

Yamada M, Emmanuele V, Sanchez-Quintero MJ, Sun B, Lallos G, Paull D, Zimmer M, Pagett S, Prosser RW, Sauer MV, Hirano M, Egli D*. Genetic drift can compromise mitochondrial replacement by nuclear transfer in human oocytes. Cell Stem Cell. 2016 Jun 2;18 (6): pp. 749-54. PMID: 27212703

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