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Origins and mechanisms leading to aneuploidy in human eggs
Authors:Lena Wartosch  Karen Schindler  Melina Schuh  Jennifer R Gruhn  Eva R Hoffmann  Rajiv C McCoy  Jinchuan Xing
Institution:1. Department of Meiosis, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany;2. Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, New Jersey, USA;3. DNRF Center for Chromosome Stability, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark;4. Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA
Abstract:The gain or loss of a chromosome—or aneuploidy—acts as one of the major triggers for infertility and pregnancy loss in humans. These chromosomal abnormalities affect more than 40% of eggs in women at both ends of the age spectrum, that is, young girls as well as women of advancing maternal age. Recent studies in human oocytes and embryos using genomics, cytogenetics, and in silico modeling all provide new insight into the rates and potential genetic and cellular factors associated with aneuploidy at varying stages of development. Here, we review recent studies that are shedding light on potential molecular mechanisms of chromosome missegregation in oocytes and embryos across the entire female reproductive life span.
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