ArticleHuman molecular genetics2014
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.Archives of toxicology · 2026Review
- Chromosome-specific differences in the recombination landscape of spontaneous meiotic nondisjunction.Genetics · 2026Article
- Chromosome-specific differences in the recombination landscape of spontaneous meiotic nondisjunction.bioRxiv : the preprint server for biology · 2026Article
- Aberrant landscapes of maternal meiotic crossovers contribute to aneuploidies in human embryos.Genome research · 2024Article
- Mapping of meiotic recombination in human preimplantation blastocysts.G3 (Bethesda, Md.) · 2023Article
- Genome diversity and instability in human germ cells and preimplantation embryos.Seminars in cell & developmental biology · 2021Article
- The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.PLoS genetics · 2021Article
- Crossover Position Drives Chromosome Remodeling for Accurate Meiotic Chromosome Segregation.Current biology : CB · 2020Article
- A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.PLoS genetics · 2019Article
- Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.Nature genetics · 2018Article
- Article
- Generation of meiomaps of genome-wide recombination and chromosome segregation in human oocytes.Nature protocols · 2016Article
- Oocyte development, meiosis and aneuploidy.Seminars in cell & developmental biology · 2015Review
- Explore the dynamic alternation of gene PLAC4 mRNA expression levels in maternal plasma in second trimester for nonivasive detection of trisomy 21.Obstetrics & gynecology science · 2015Article
- Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates.Nature genetics · 2015Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
In oocytes with nondisjoined chromosomes 21 due to a meiosis I (MI) error, recombination is significantly reduced along chromosome 21; several lines of evidence indicate that this contributes to the nondisjunction event. A pilot study found evidence that these oocytes also have reduced recombination genome-wide when compared with controls. This suggests that factors that act globally may be contributing to the reduced recombination on chromosome 21, and hence, the nondisjunction event. To identify the source of these factors, we examined two levels of recombination count regulation in oocytes: (i) regulation at the maternal level that leads to correlation in genome-wide recombination across her oocytes and (ii) regulation at the oocyte level that leads to correlation in recombination count among the chromosomes of an oocyte. We sought to determine whether either of these properties was altered in oocytes with an MI error. As it relates to maternal regulation, we found that both oocytes with an MI error (N = 94) and their siblings (N = 64) had reduced recombination when compared with controls (N = 2723). At the oocyte level, we found that the correlation in recombination count among the chromosomes of an oocyte is reduced in oocytes with MI errors compared with that of their siblings or controls. These results suggest that regulation at the maternal level predisposes MI error oocytes to reduced levels of recombination, but additional oocyte-specific dysregulation contributes to the nondisjunction event.
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