ArticleHuman molecular genetics2018
Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
35 citing papers in PubMed, 74 citations in OpenAlex.
- Article
- Effect of preimplantation genetic testing for aneuploidy on pregnancy outcomes of patients with recurrent miscarriage: a retrospective study.BMC pregnancy and childbirth · 2026Article
- Cleavage pattern, morula compaction and blastocyst morphology as determinants of live birth after single blastocyst transfer.Frontiers in reproductive health · 2026Article
- Genome instability in mammalian embryos implications for genome editing, development, and evolution.Current opinion in genetics & development · 2025Review
- The chromosomal challenge of human embryos: Mechanisms and fundamentals.HGG advances · 2025Review
- Embryonic Outcomes, Live-Birth Outcomes After Embryo Transfer, and Euploid Rates for Various Direct Cleavage Timing Definitions During First Cytokinesis: A Single-Center, Large-Cohort, Retrospective Study.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development.Journal of assisted reproduction and genetics · 2024Review
- Association of early cleavage, morula compaction and blastocysts ploidy of IVF embryos cultured in a time-lapse system and biopsied for genetic test for aneuploidy.Scientific reports · 2024Article
- Upregulated RPA2 in endometrial tissues of repeated implantation failure patients impairs the endometrial decidualization.Journal of assisted reproduction and genetics · 2023Article
- The first mitotic division: a perilous bridge connecting the zygote and the early embryo.Human reproduction (Oxford, England) · 2023Article
- The first mitotic division of human embryos is highly error prone.Nature communications · 2022Article
- Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.Human genetics · 2022Article
- The fan base for embryo selection strategies: enlightened or flummoxed.Journal of assisted reproduction and genetics · 2022Article
- Clinical Outcome, Socioeconomic Status and Psychological Constrains of Patients Undergoing Preimplantation Genetic Testing (PGT) in Northern Greece.Medicina (Kaunas, Lithuania) · 2022Article
- Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts.Genome biology · 2022Article
- Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism.Reproduction & fertility · 2022Review
- Molecular contribution to embryonic aneuploidy and karyotypic complexity in initial cleavage divisions of mammalian development.Development (Cambridge, England) · 2022Article
- Next Generation Sequencing Detects Premeiotic Errors in Human Oocytes.International journal of molecular sciences · 2022Article
- Haplotype-aware inference of human chromosome abnormalities.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Let the data do the talking: the need to consider mosaicism during embryo selection.Fertility and sterility · 2021Review
Corrections and comments
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Authors and funding
13 authors at 9 institutions in 4 countries.
Funding
Abstract
Aneuploidy is prevalent in human embryos and is the leading cause of pregnancy loss. Many aneuploidies arise during oogenesis, increasing with maternal age. Superimposed on these meiotic aneuploidies are frequent errors occurring during early mitotic divisions, contributing to widespread chromosomal mosaicism. Here we reanalyzed a published dataset comprising preimplantation genetic testing for aneuploidy in 24 653 blastomere biopsies from day-3 cleavage-stage embryos, as well as 17 051 trophectoderm biopsies from day-5 blastocysts. We focused on complex abnormalities that affected multiple chromosomes simultaneously, seeking insights into their formation. In addition to well-described patterns such as triploidy and haploidy, we identified 4.7% of blastomeres possessing characteristic hypodiploid karyotypes. We inferred this signature to have arisen from tripolar chromosome segregation in normally fertilized diploid zygotes or their descendant diploid cells. This could occur via segregation on a tripolar mitotic spindle or by rapid sequential bipolar mitoses without an intervening S-phase. Both models are consistent with time-lapse data from an intersecting set of 77 cleavage-stage embryos, which were enriched for the tripolar signature among embryos exhibiting abnormal cleavage. The tripolar signature was strongly associated with common maternal genetic variants spanning the centrosomal regulator PLK4, driving the association we previously reported with overall mitotic errors. Our findings are consistent with the known capacity of PLK4 to induce tripolar mitosis or precocious M-phase upon dysregulation. Together, our data support tripolar chromosome segregation as a key mechanism generating complex aneuploidy in cleavage-stage embryos and implicate maternal genotype at a quantitative trait locus spanning PLK4 as a factor influencing its occurrence.
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