Introduction Aneuploidy (the presence of extra or missing chromosomes) arises primarily through chromosome segregation errors in the oocyte at meiosis I but the details of mechanism by which such errors occur in humans are the subject of some debate. It is generally believed that aneuploidy arises primarily as a result of segregation of a whole chromosome to the same pole as its homologue (non-disjunction). Nonetheless, classical cytogenetic studies suggest that this model does not fully account for the patterns observed in human oocytes. An alternative model (precocious separation of sister chromatids) has thus been proposed, but recurring criticism of this model purports that technical issues may have led to interpretation errors.
Materials and methods Array comparative genomic hybridisation (aCGH) was used on 164 human first polar bodies to distinguish between whole chromosome (non-disjunction) and chromatid (precocious separation) errors.
Results Single chromatid errors were over 11 times more common than whole chromosome errors, consistent with prior classical cytogenetic and fluorescence in situ hybridisation (FISH) studies.
Discussion The received wisdom that non-disjunction is the primary mechanism leading to human aneuploidy should be reconsidered.
- Polar body
- genetic screening
- cell biology
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Funding This work was funded, in part by a Career Development Fellowship (BB/E024211/1) awarded to DKG. Other funders: BBSRC.
Ethics approval This study was conducted with the approval of the research licence held at the London Bridge Fertility, Gynaecology and Genetics Centre.
Provenance and peer review Not commissioned; externally peer reviewed.
Competing interests A Thornhill and A Handyside have, or have had, directorial roles in the London Bridge Centre. A Gordon is a director of BlueGnome. Both companies could, potentially, benefit indirectly from the publication of this article.
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