ArticleAmerican journal of human genetics2021
Failure to recombine is a common feature of human oogenesis.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 44 citations in OpenAlex.
- Meiotic pairing through barcode-like satellite DNA repeats.Nature communications · 2026Article
- Molecular assessment of recombination processing across genetically diverse mouse strains reveals sexually dimorphic determinants of crossover distribution beyond chromosome length.Molecular biology and evolution · 2026Article
- Chromosome-specific differences in the recombination landscape of spontaneous meiotic nondisjunction.Genetics · 2026Article
- Article
- Chromosome-specific differences in the recombination landscape of spontaneous meiotic nondisjunction.bioRxiv : the preprint server for biology · 2026Article
- Chromosome length is not the sole determinant of sexually dimorphic crossover rates during mammalian meiosis: Insights from genetically diverse mouse strains.bioRxiv : the preprint server for biology · 2025Article
- Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans.American journal of human genetics · 2025Article
- Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos.Scientific reports · 2025Article
- CNTD1 is crucial for crossover formation in female meiosis and for establishing the ovarian reserve.The Journal of cell biology · 2025Article
- Sequence diversity lost in early pregnancy.Nature · 2025Article
- Distinct and interdependent functions of three RING proteins regulate recombination during mammalian meiosis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.Nature structural & molecular biology · 2024Article
- Aberrant landscapes of maternal meiotic crossovers contribute to aneuploidies in human embryos.Genome research · 2024Article
- Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.Nature medicine · 2023Article
- Modeling Recombination Rate as a Quantitative Trait Reveals New Insight into Selection in Humans.Genome biology and evolution · 2023Article
- Population monitoring of trisomy 21: problems and approaches.Molecular cytogenetics · 2023Review
- Mapping of meiotic recombination in human preimplantation blastocysts.G3 (Bethesda, Md.) · 2023Article
- Predicting recombination frequency from map distance.Heredity · 2023Article
- Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Failure of homologous chromosomes to recombine is arguably the most important cause of human meiotic nondisjunction, having been linked to numerous autosomal and sex chromosome trisomies of maternal origin. However, almost all information on these "exchangeless" homologs has come from genetic mapping studies of trisomic conceptuses, so the incidence of this defect and its impact on gametogenesis are not clear. If oocytes containing exchangeless homologs are selected against during meiosis, the incidence may be much higher in developing germ cells than in zygotes. To address this, we initiated studies of exchangeless chromosomes in fetal ovarian samples from elective terminations of pregnancy. In total, we examined more than 7,000 oocytes from 160 tissue samples, scoring for the number of foci per cell of the crossover-associated protein MLH1. We identified a surprisingly high level of recombination failure, with more than 7% of oocytes containing at least one chromosome pair that lacked an MLH1 focus. Detailed analyses indicate striking chromosome-specific differences, with a preponderance of MLH1-less homologs involving chromosomes 21 or 22. Further, the effect was linked to the overall level of recombination in the cell, with the presence of one or two exchangeless chromosomes in a cell associated with a 10%-20% reduction in the total number of crossovers. This suggests individuals with lower rates of meiotic recombination are at an increased risk of producing aneuploid offspring.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.