Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage

Zhang, Qian; Li, Guangyu; Zhang, Lei; Sun, Xiaohe; Zhang, Dandan; Lu, Juanjuan; Ma, Jinlong; Yan, Junhao; Chen, Zi‐Jiang

doi:10.1016/j.fertnstert.2017.01.006

Cited by 19 publications

(17 citation statements)

References 41 publications

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“…A strong association was detected with common (~30% global minor allele frequency) variants defining a ~600 Kb haplotype spanning the master centrosomal regulator PLK4 , along with several other genes [49]. Embryos from patients with high-risk genotypes suffer diminished rates of blastocyst formation [49, 50], consistent with lethality of the chaotic aneuploid phenotype. Future work will be necessary to confirm the causal role of PLK4 and establish the molecular mechanism driving this signal, but the observed patterns of chromosomal chaos (multiple chromosome loss) coupled with the known capacity of PLK4 to induce aberrant spindle formation are strongly suggestive.…”

Section: Molecular Factors Contributing To Mitotic Errormentioning

confidence: 99%

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

2017

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Along with errors in meiosis, mitotic errors during post-zygotic cell division contribute to pervasive aneuploidy in human embryos. Relatively little is known, however, about the genesis of these errors or their fitness consequences. Rapid technological advances are helping close this gap, revealing diverse molecular mechanisms contributing to mitotic error. These include altered cell cycle checkpoints, aberrations of the centrosome, and failed chromatid cohesion, mirroring findings from cancer biology. Recent studies are challenging the idea that mitotic error is abnormal, emphasizing that the fitness impacts of mosaicism depend on its scope and severity. In light of these findings, technical and philosophical limitations of various screening approaches are discussed, along with avenues for future research.

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Section: Molecular Factors Contributing To Mitotic Errormentioning

confidence: 99%

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

2017

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“…Zhang et al (46) recently replicated a key finding of our initial association study, demonstrating that rates of blastocyst formation are reduced among embryos from patients carrying the high-risk genotypes of rs2305957. Furthermore, patients diagnosed with early recurrent miscarriage were found to possess a higher frequency of the risk allele compared to matched fertile control subjects (46). Our analysis provides evidence of the molecular mechanism underlying these results, suggesting that complex aneuploidies arising from tripolar mitosis are associated with increased rates of embryonic mortality prior to blastocyst formation.…”

Section: Discussionmentioning

confidence: 55%

Tripolar mitosis drives the association between maternal genotypes ofPLK4and aneuploidy in human preimplantation embryos

McCoy

et al. 2017

Preprint

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“…2015 ). Furthermore in a recent study, assessment of a cohort of infertile women evidenced that a common variant rs2305957 of the PLK4 gene yielded a significantly lower blastocyst rate in comparison to a control; this variant was particularly pronounced in a subset of patients with early recurrent miscarriage ( Zhang et al . 2017 ).…”

Section: Male Gamete Bioassaysmentioning

confidence: 99%

Intracytoplasmic sperm injection: state of the art in humans

et al. 2017

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Among infertile couples, 25% involve both male and female factors, while male factor alone accounts for another 25% due to oligo-, astheno-, teratozoospermia, a combination of the three, or even a complete absence of sperm cells in the ejaculate and can lead to a poor prognosis even with the help of assisted reproductive technology (ART). Intracytoplasmic sperm injection (ICSI) has been with us now for a quarter of a century and in spite of the controversy generated since its inception, it remains in the forefront of the techniques utilized in ART. The development of ICSI in 1992 has drastically decreased the impact of male factor, resulting in millions of pregnancies worldwide for couples who, without ICSI, would have had little chance of having their own biological child. This review focuses on the state of the art of ICSI regarding utility of bioassays that evaluate male factor infertility beyond the standard semen analysis and describes the current application and advances in regard to ICSI, particularly the genetic and epigenetic characteristics of spermatozoa and their impact on reproductive outcome.

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Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage

Cited by 19 publications

References 41 publications

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

Tripolar mitosis drives the association between maternal genotypes ofPLK4and aneuploidy in human preimplantation embryos

Intracytoplasmic sperm injection: state of the art in humans

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