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Human aneuploidy: mechanisms and new insights into an age-old problem
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Human aneuploidy: mechanisms and new insights into an age-old problem
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Journal Article
Human aneuploidy: mechanisms and new insights into an age-old problem
2012
Overview
Key Points
Aneuploidy is extraordinarily common in humans, occurring in an estimated 20–40% of all conceptions. It is the most common cause of miscarriages and congenital defects in our species and is a leading impediment to the treatment of infertility.
Most aneuploidy results from maternal meiotic nondisjunctional errors. However, there is remarkable variation among chromosomes in the way in which these errors originate, indicating that there are multiple mechanisms by which human aneuploidy occurs.
Studies of human fetal oocytes indicate a high level of recombination errors, indicating that some oocytes are predisposed to nondisjoin because of events that occurred before birth.
Cell cycle control checkpoints that operate in meiotic prophase and at the metaphase–anaphase transition are less stringent in females than in males. Consequently, abnormal cells that are eliminated in spermatogenesis may escape detection in the female, ultimately leading to aneuploid eggs.
Studies from mice suggest that loss of cohesin proteins over the reproductive life of the female contribute to the maternal age effect on human trisomy.
Exposure to endocrine disruptors (for example, bisphenol A) disrupts oogenesis at multiple stages and predisposes the oocyte to aneuploidy.
Aneuploidy is the leading cause of congenital defects in humans and nearly always results from errors occurring in oocytes. Here, the authors review the evidence pointing towards the mechanistic basis of meiotic defects leading to aneuploidy and discuss the potential role of environmental factors.
Trisomic and monosomic (aneuploid) embryos account for at least 10% of human pregnancies and, for women nearing the end of their reproductive lifespan, the incidence may exceed 50%. The errors that lead to aneuploidy almost always occur in the oocyte but, despite intensive investigation, the underlying molecular basis has remained elusive. Recent studies of humans and model organisms have shed new light on the complexity of meiotic defects, providing evidence that the age-related increase in errors in the human female is not attributable to a single factor but to an interplay between unique features of oogenesis and a host of endogenous and exogenous factors.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Chromosome Segregation - physiology
/ Embryos
/ Endocrine Disruptors - adverse effects
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ M Phase Cell Cycle Checkpoints - physiology
/ Meiosis
/ Reproductive Techniques, Assisted
/ Sperm
