Balajee, A.S., and Geard, C.R. (2004). Replication protein A and gamma-H2AX foci assembly is triggered by cellular response to DNA double-strand breaks. Exp. Cell Res. 300, 320–334.
Boroviak, T., Stirparo, G.G., Dietmann, S., Hernando-Herraez, I., Mohammed, H., Reik, W., Smith, A., Sasaki, E., Nichols, J., and Ber- tone, P. (2018). Single cell transcriptome analysis of human, marmoset and mouse embryos reveals common and divergent fea- tures of preimplantation development. Development 145. https:// doi.org/10.1242/dev.167833.
Capalbo, A., Bono, S., Spizzichino, L., Biricik, A., Baldi, M., Cola- maria, S., Ubaldi, F.M., Rienzi, L., and Fiorentino, F. (2013). Sequen- tial comprehensive chromosome analysis on polar bodies, blasto- meres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of em- bryo development. Hum. Reprod. 28, 509–518.
Daphnis, D.D., Fragouli, E., Economou, K., Jerkovic, S., Craft, I.L., Delhanty, J.D., and Harper, J.C. (2008). Analysis of the evolution of chromosome abnormalities in human embryos from day 3 to 5 us- ing CGH and FISH. Mol. Hum. Reprod. 14, 117–125.
Demko, Z.P., Simon, A.L., McCoy, R.C., Petrov, D.A., and Rabino- witz, M. (2016). Effects of maternal age on euploidy rates in a large cohort of embryos analyzed with 24-chromosome single-nucleo- tide polymorphism-based preimplantation genetic screening. Fer- til. Steril. 105, 1307–1313.
Edelstein, L.C., and Collins, T. (2005). The SCAN domain family of zinc finger transcription factors. Gene 359, 1–17.
Egli, D., Birkhoff, G., and Eggan, K. (2008). Mediators of reprog- ramming: transcription factors and transitions through mitosis. Nat. Rev. Mol. Cell Biol. 9, 505–516.
Ellis, N.A., Ciocci, S., and German, J. (2001). Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. Hum. Genet. 108, 167–173.
Falco, G., Stanghellini, I., and Ko, M.S. (2006). Use of Chuk as an internal standard suitable for quantitative RT-PCR in mouse preim- plantation embryos. Reprod. Biomed. Online 13, 394–403.
Falco, G., Lee, S.L., Stanghellini, I., Bassey, U.C., Hamatani, T., and Ko, M.S. (2007). Zscan4: a novel gene expressed exclusively in late 2-cell embryos and embryonic stem cells. Dev. Biol. 307, 539–550.
Forget, A.L., and Kowalczykowski, S.C. (2010). Single-molecule im- aging brings Rad51 nucleoprotein filaments into focus. Trends Cell Biol. 20, 269–276.
Fukawatase, Y., Toyoda, M., Okamura, K., Nakamura, K., Nakabaya- shi, K., Takada, S., Yamazaki-Inoue, M., Masuda, A., Nasu, M., Hata, K., et al. (2014). Ataxia telangiectasia derived iPS cells show pre- served X-ray sensitivity and decreased chromosomal instability. Sci. Rep. 4, 5421.
Hamatani, T., Carter, M.G., Sharov, A.A., and Ko, M.S. (2004). Dy- namics of global gene expression changes during mouse preim- plantation development. Dev. Cell 6, 117–131.
Harper, J.C., Coonen, E., Handyside, A.H., Winston, R.M., Hop- man, A.H., and Delhanty, J.D. (1995). Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat. Diagn. 15, 41–49.
Hashimoto, H., Takami, Y., Sonoda, E., Iwasaki, T., Iwano, H., Ta- chibana, M., Takeda, S., Nakayama, T., Kimura, H., and Shinkai, Y. (2010). Histone H1 null vertebrate cells exhibit altered nucleo- some architecture. Nucleic Acids Res. 38, 3533–3545.
Hassold, T., and Hunt, P. (2001). To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet. 2, 280–291.
Ikawa, M., Yamada, S., Nakanishi, T., and Okabe, M. (1999). Green fluorescent protein (GFP) as a vital marker in mammals. Curr. Top. Dev. Biol. 44, 1–20.
Kort, D.H., Chia, G., Treff, N.R., Tanaka, A.J., Xing, T., Vensand, L.B., Micucci, S., Prosser, R., Lobo, R.A., Sauer, M.V., et al. (2016). Human embryos commonly form abnormal nuclei during devel- opment: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrest. Hum. Reprod. 31, 312–323.
Kosugi, S., Hasebe, M., Tomita, M., and Yanagawa, H. (2009). Sys- tematic identification of cell cycle-dependent yeast nucleocyto- plasmic shuttling proteins by prediction of composite motifs. Proc. Natl. Acad. Sci. U S A 106, 10171–10176.
Mamo, S., Gal, A.B., Bodo, S., and Dinnyes, A. (2007). Quantitative evaluation and selection of reference genes in mouse oocytes and embryos cultured in vivo and in vitro. BMC Dev. Biol. 7, 14.
McCoy, R.C. (2017). Mosaicism in preimplantation human em- bryos: when chromosomal abnormalities are the norm. Trends Genet. 33, 448–463.
McCoy, R.C., Demko, Z.P., Ryan, A., Banjevic, M., Hill, M., Sigur- jonsson, S., Rabinowitz, M., and Petrov, D.A. (2015). Evidence of selection against complex mitotic-origin aneuploidy during preim- plantation development. PLoS Genet. 11, e1005601.
Nagy, A., Gertsenstein, M., Vintersten, K., and Behringer, R. (2003). Manipulating the Mouse Embryo: A Laboratory Manual, Third Edi- tion (Cold Spring Harbor Laboratory).
Niwa, H., Yamamura, K., and Miyazaki, J. (1991). Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108, 193–199.
Noggle, S., Fung, H.L., Gore, A., Martinez, H., Satriani, K.C., Prosser, R., Oum, K., Paull, D., Druckenmiller, S., Freeby, M., et al. (2011). Human oocytes reprogram somatic cells to a pluripo- tent state. Nature 478, 70–75.
Rubio, C., Rodrigo, L., Mercader, A., Mateu, E., Buendia, P., Pehli- van, T., Viloria, T., De los Santos, M.J., Simon, C., Remohi, J., et al. (2007). Impact of chromosomal abnormalities on preimplan- tation embryo development. Prenat. Diagn. 27, 748–756.
Sassi, A., Popielarski, M., Synowiec, E., Morawiec, Z., and Wozniak, K. (2013). BLM and RAD51 genes polymorphism and susceptibility to breast cancer. Pathol. Oncol. Res. 19, 451–459.
Schmitges, F.W., Radovani, E., Najafabadi, H.S., Barazandeh, M., Campitelli, L.F., Yin, Y., Jolma, A., Zhong, G., Guo, H., Kanagalingam, T., et al. (2016). Multiparameter functional diver- sity of human C2H2 zinc finger proteins. Genome Res. 26, 1742– 1752.
Schultz, J., Milpetz, F., Bork, P., and Ponting, C.P. (1998). SMART, a simple modular architecture research tool: identification of signaling domains. Proc. Natl. Acad. Sci. U S A 95, 5857–5864.
Skamagki, M., Correia, C., Yeung, P., Baslan, T., Beck, S., Zhang, C., Ross, C.A., Dang, L., Liu, Z., Giunta, S., et al. (2017). ZSCAN10 expression corrects the genomic instability of iPSCs from aged do- nors. Nat. Cell Biol. 19, 1037–1048.
Sonoda, E., Sasaki, M.S., Buerstedde, J.M., Bezzubova, O., Shino- hara, A., Ogawa, H., Takata, M., Yamaguchi-Iwai, Y., and Takeda, S. (1998). Rad51-deficient vertebrate cells accumulate chromo- somal breaks prior to cell death. EMBO J. 17, 598–608.
Sun, Y., Zhang, H., Kazemian, M., Troy, J.M., Seward, C., Lu, X., and Stubbs, L. (2016). ZSCAN5B and primate-specific paralogs bind RNA polymerase III genes and extra-TFIIIC (ETC) sites to modulate mitotic progression. Oncotarget 7, 72571–72592.
van Gent, D.C., Hoeijmakers, J.H., and Kanaar, R. (2001). Chromo- somal stability and the DNA double-stranded break connection. Nat. Rev. Genet. 2, 196–206.
Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Me- lotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., et al. (2009). Chromosome instability is common in human cleavage- stage embryos. Nat. Med. 15, 577–583.
Wang, Q.T., Piotrowska, K., Ciemerych, M.A., Milenkovic, L., Scott, M.P., Davis, R.W., and Zernicka-Goetz, M. (2004). A genome-wide study of gene activity reveals developmental signaling pathways in the preimplantation mouse embryo. Dev. Cell 6, 133–144.
Willis, N.A., Frock, R.L., Menghi, F., Duffey, E.E., Panday, A., Cama-cho, V., Hasty, E.P., Liu, E.T., Alt, F.W., and Scully, R. (2017). Mech- anism of tandem duplication formation in BRCA1-mutant cells. Nature 551, 590–595.
Yamada, M., Hamatani, T., Akutsu, H., Chikazawa, N., Kuji, N., Yoshimura, Y., and Umezawa, A. (2010). Involvement of a novel preimplantation-specific gene encoding the high mobility group box protein Hmgpi in early embryonic development. Hum. Mol. Genet. 19, 480–493.
Yamada, M., Johannesson, B., Sagi, I., Burnett, L.C., Kort, D.H., Prosser, R.W., Paull, D., Nestor, M.W., Freeby, M., Greenberg, E., et al. (2014). Human oocytes reprogram adult somatic nuclei of a type 1 diabetic to diploid pluripotent stem cells. Nature 510, 533–536.
Zalzman, M., Falco, G., Sharova, L.V., Nishiyama, A., Thomas, M., Lee, S.L., Stagg, C.A., Hoang, H.G., Yang, H.T., Indig, F.E., et al. (2010). Zscan4 regulates telomere elongation and genomic stabil- ity in ES cells. Nature 464, 858–863.
Zhao, W., Steinfeld, J.B., Liang, F., Chen, X., Maranon, D.G., Jian Ma, C., Kwon, Y., Rao, T., Wang, W., Sheng, C., et al. (2017). BRCA1–BARD1 promotes RAD51-mediated homologous DNA pairing. Nature 550, 360–365.
論文の公開元へ
