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Advances in understanding the genetic causes and mechanisms of female germ cell aneuploidy

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Pages 687-706 | Published online: 10 Jan 2014
 

Abstract

Aneuploidy, the gain or loss of one or more chromosomes, is the main ascertained cause of embryonic loss and the most common genetic defect in newborns. Human germ cell aneuploidy is characterized by its more frequent occurrence during oogenesis and its correlation with maternal age. Although we still lack a unique precept explaining the etiology of aneuploidy, progress has been made in elucidating the mechanisms that control chromosome segregation. The use of experimental models with genetic mutations in specific genes has helped to identify mechanisms that predispose female germ cells to aneuploidy, including disturbances in meiotic recombination, spindle attachment and cell cycle checkpoint. This article presents the latest advances in identifying genetic factors involved in the genesis of germ cell aneuploidy.

Financial & competing interests disclosure

Work has been performed in part under the auspices of the US Department of Energy by the University of California, LBNL under contract DE-AC02-05CH11231. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Notes

APC/C: Anaphase-promoting complex/cyclosome; Bub: Budding inhibited by benzimidazole; Cdc: Cell division cycle; Cdk: Cyclin-dependent kinase; CenP-E: Centromeric protein E; Mad: Mitotic arrest deficient; MAT: Metaphase–anaphase transition; MCAK: Microtubule centromere-associated kinesin; MPF: Maturation-promoting factor; PLK1: Polo-like kinase 1; PP2A: Protein phosphatase 2A; SAC: Spindle-assembly checkpoint; Scc: Sister chromatid cohesion; Sgo: Shugoshins; Smc: Structural maintenance of chromosomes; Topo II: Topoisomerase II.

Adapted from Citation[185].

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