Xie Philip, Takeuchi Takumi, Cheung Stephanie, Rosenwaks Zev, Palermo Gianpiero D
The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medicine, 1305 York Avenue, New York, NY, Y72010021, USA.
Reproduction Clinic Tokyo, Shiodome City Center 3F, 1-5-2 Higashi-shimbashi, Minato-ku, Tokyo, Japan.
Sci Rep. 2025 May 4;15(1):15600. doi: 10.1038/s41598-025-99188-1.
Male factor infertility accounts for approximately 30% of infertility cases. When spermatozoa are extremely scarce, replicating the male gamete to fertilize a large cohort of oocytes is ideal. Additionally, patients with inherited disorders currently rely on pre-implantation genetic testing (PGT) to select healthy embryos, which raises ethical concerns owing to the generation of multiple embryos to select one healthy conceptus. Therefore, it would be beneficial to decode the genetics of a single sperm cell before conceptus generation. In this study, we demonstrated the feasibility of replicating the sperm genome via androgenesis and selecting the desired gamete before fertilization to preserve a specific paternal genotype, as confirmed by phenotypic observations and genetic testing in a murine model. We achieved satisfactory pre-implantation development rates with replicated male gametes and generated healthy offspring. Specifically, using 8-cell stage androgenetic embryos, a single spermatozoon can yield up to three conceptuses carrying an identical paternal haplotype.
男性因素导致的不育约占不育病例的30%。当精子极其稀少时,复制雄配子以使大量卵母细胞受精是理想的做法。此外,患有遗传性疾病的患者目前依靠植入前基因检测(PGT)来选择健康胚胎,由于要产生多个胚胎才能选出一个健康的孕体,这引发了伦理问题。因此,在孕体形成之前解码单个精子细胞的基因将是有益的。在本研究中,我们通过雄核发育证明了复制精子基因组并在受精前选择所需配子以保留特定父本基因型的可行性,这在小鼠模型中的表型观察和基因检测中得到了证实。我们用复制的雄配子实现了令人满意的植入前发育率,并产生了健康的后代。具体而言,使用8细胞期的雄核发育胚胎,单个精子最多可产生三个携带相同父本单倍型的孕体。