التفاصيل البيبلوغرافية
| العنوان: |
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles |
| المؤلفون: |
Karine Hovanes, Kurosh Rahimi, Louise Lapensée, Ngoc Minh Phuong Nguyen, Ramesh Reddy, Philippe Sauthier, Trilochan Sahoo, Feride Iffet Sahin, Matthew Osmond, Rima Slim, Zhao-Jia Ge, Magali Breguet, Jacek Majewski, Teruko Taketo, Asangla Ao, Somayyeh Fahiminiya, Radhika Srinivasan, Rashmi Bagga, Ignatia B. Van den Veyver, Sangeetha Mahadevan |
| المصدر: |
The American Journal of Human Genetics. 103:740-751 |
| بيانات النشر: |
Elsevier BV, 2018. |
| سنة النشر: |
2018 |
| مصطلحات موضوعية: |
Male, 0301 basic medicine, Zygote, female infertility, Biology, male infertility, recurrent hydatidiform moles, Chromosomes, Article, Male infertility, recurrent miscarriages, Andrology, Mice, 03 medical and health sciences, Human fertilization, Meiosis, Pregnancy, Genetics, medicine, TOP6BL, Animals, Humans, REC114, Alleles, Genetics (clinical), MEI1, Mammals, Female infertility, Embryo, Hydatidiform Mole, medicine.disease, Sperm, Mice, Inbred C57BL, 030104 developmental biology, Mutation, Androgens, Oocytes, Female, Ploidy |
| الوصف: |
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. © 2018 American Society of Human Genetics |
| وصف الملف: |
application/pdf |
| تدمد: |
0002-9297 |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40b192fdb19d383fe5aadd54ae1aa67cTest
https://doi.org/10.1016/j.ajhg.2018.10.007Test |
| حقوق: |
OPEN |
| رقم الانضمام: |
edsair.doi.dedup.....40b192fdb19d383fe5aadd54ae1aa67c |
| قاعدة البيانات: |
OpenAIRE |
