期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 103, 期 5, 页码 740-751出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2018.10.007
关键词
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资金
- McGill Faculty of Medicine
- CRRD
- Canadian Institute of Health Research [MOP-130364]
- RQR
- RI-MUHC, Desjardins Studentship in Child Heath Research
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.
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