| First Author | Nguyen NMP | Year | 2018 |
| Journal | Am J Hum Genet | Volume | 103 |
| Issue | 5 | Pages | 740-751 |
| PubMed ID | 30388401 | Mgi Jnum | J:269282 |
| Mgi Id | MGI:6272222 | Doi | 10.1016/j.ajhg.2018.10.007 |
| Citation | Nguyen NMP, et al. (2018) Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. Am J Hum Genet 103(5):740-751 |
| abstractText | Androgenetic complete hydatidiform moles are human pregnancies with no embryos and affect 1 in every 1,400 pregnancies. They have mostly androgenetic monospermic genomes with all the chromosomes originating from a haploid sperm and no maternal chromosomes. Androgenetic complete hydatidiform moles were described in 1977, but how they occur has remained an open question. We identified bi-allelic deleterious mutations in MEI1, TOP6BL/C11orf80, and REC114, with roles in meiotic double-strand breaks formation in women with recurrent androgenetic complete hydatidiform moles. We investigated the occurrence of androgenesis in Mei1-deficient female mice and discovered that 8% of their oocytes lose all their chromosomes by extruding them with the spindles into the first polar body. We demonstrate that Mei1(-/-) oocytes are capable of fertilization and 5% produce androgenetic zygotes. Thus, we uncover a meiotic abnormality in mammals and a mechanism for the genesis of androgenetic zygotes that is the extrusion of all maternal chromosomes and their spindles into the first polar body. |
