ArticleEMBO molecular medicine2021
Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation.
Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 60 citations in OpenAlex.
- The genetic etiology of spontaneous abortion: insights from chromosomal microarray analysis and whole-exome sequencing.Scientific reports · 2026Article
- Pre-implantation embryo metabolism identified by PEMA reveals endogenous lactate insufficiency contributes to pre-implantation development arrest.Fundamental research · 2026Article
- MOS is a key regulator of meiotic midbody assembly and prevents abnormal divisions in mouse eggs and their polar bodies.Journal of cell science · 2026Article
- Novel variants in MEI1 cause female infertility characterized by early embryonic arrest and implantation failure.Journal of assisted reproduction and genetics · 2026Article
- Plat safeguards maternally aged oocytes against programmed cell death through activating the Erk1/2 pathway.Science China. Life sciences · 2026Article
- ZAR1 pathogenic variants disrupt maternal mRNA storage and cause oocyte maturation defects in humans.Cellular and molecular life sciences : CMLS · 2025Article
- The Critical Role of Enhanced OXPHOS and Mitochondrial Hyperpolarization in Simulated Microgravity-Induced Oocyte Maturation Arrest.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Homozygous variant in JARID2 causes female infertility characterized by compromised blastulation efficiency.Journal of ovarian research · 2025Article
- The Nuclear Localization of ACLY Guards Early Embryo Development Through Recruiting P300 and HAT1 to Promote Histone Acetylation and Transcription.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Disrupted MOS signaling alters meiotic cell cycle regulation and the egg transcriptome.Reproduction (Cambridge, England) · 2025Article
- Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.Journal of assisted reproduction and genetics · 2025Article
- Altered zygotic gene expression caused by sperm withMedComm · 2025Article
- PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation.Cell & bioscience · 2024Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.Human genetics · 2024Article
- The global phosphorylation landscape of mouse oocytes during meiotic maturation.The EMBO journal · 2024Article
- Genome-Wide Selection Sweep Analysis to Identify Candidate Genes with Black and Brown Color in Tibetan Sibu Yaks.Animals : an open access journal from MDPI · 2024Article
- Identification of novel compound heterozygous ZFP36L2 variants implicated in oocyte maturation defects and female infertility.Journal of assisted reproduction and genetics · 2024Article
- Novel PATL2 variants cause female infertility with oocyte maturation defect.Journal of assisted reproduction and genetics · 2024Article
- CRL4Cellular and molecular life sciences : CMLS · 2024Article
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Authors and funding
23 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early embryonic arrest and fragmentation (EEAF) is a common phenomenon leading to female infertility, but the genetic determinants remain largely unknown. The Moloney sarcoma oncogene (MOS) encodes a serine/threonine kinase that activates the ERK signaling cascade during oocyte maturation in vertebrates. Here, we identified four rare variants of MOS in three infertile female individuals with EEAF that followed a recessive inheritance pattern. These MOS variants encoded proteins that resulted in decreased phosphorylated ERK1/2 level in cells and oocytes, and displayed attenuated rescuing effects on cortical F-actin assembly. Using oocyte-specific Erk1/2 knockout mice, we verified that MOS-ERK signal pathway inactivation in oocytes caused EEAF as human. The RNA sequencing data revealed that maternal mRNA clearance was disrupted in human mature oocytes either with MOS homozygous variant or with U0126 treatment, especially genes relative to mitochondrial function. Mitochondrial dysfunction was observed in oocytes with ERK1/2 deficiency or inactivation. In conclusion, this study not only uncovers biallelic MOS variants causes EEAF but also demonstrates that MOS-ERK signaling pathway drives human oocyte cytoplasmic maturation to prevent EEAF.
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