ArticleJournal of ovarian research2022
Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.
Article in Journal of ovarian research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Molecular Guardians of Oocyte Maturation: A Systematic Review on TUBB8, KIF11, and CKAP5 in IVF Outcomes.International journal of molecular sciences · 2025Pooled it
- Post-Translational Modifications of Tubulin in Oocyte Maturation and Female Infertility.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Functional Analysis of a Novel Missense Mutation c.1039A > G of TUBB8 in Infertile Women.Biochemical genetics · 2026Article
- ESHRE's key research priorities in infertility: maximizing impact on science, people and society†.Human reproduction (Oxford, England) · 2025Article
- Primary human ovarian interstitial cells contribute to murine follicle growth through follicle-interstitial paracrine crosstalk.Research square · 2025Article
- Genetic Abnormalities of Oocyte Maturation: Mechanisms and Clinical Implications.International journal of molecular sciences · 2024Review
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
- Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.Journal of ovarian research · 2023Article
- Nuclear-cytoplasmic asynchrony in oocyte maturation caused by TUBB8 variants via impairing microtubule function: a novel pathogenic mechanism.Reproductive biology and endocrinology : RB&E · 2023Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Prediction of anti-microtubular target proteins of tubulins and their interacting proteins using Gene Ontology tools.Journal, genetic engineering & biotechnology · 2023Article
- Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.EMBO molecular medicine · 2023Article
- Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.Journal of assisted reproduction and genetics · 2023Article
- Dual trigger for final oocyte maturation in expected normal responders with a high immature oocyte rate: a randomized controlled trial.Frontiers in medicine · 2023Article
- Gene mutations associated with fertilization failure afterFrontiers in endocrinology · 2022Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundOocyte maturation arrest at metaphase I leads to fertilization failure in humans. In early embryos, the tubulin beta 8 class VIII (TUBB8) encodes a β-tubulin isotype and aids in the assembling of the human oocyte spindle. Mutations in the TUBB8 potentially interfere with human oocyte maturation-a crucial prerequisite for fertilization and subsequent embryonic development. This study aims to investigate the novel mutations in TUBB8 and their prevalence.
resultsHundred fertile women (controls) and eleven infertile women with oocyte maturation arrest were chosen for the study. A total of five TUBB8 heterozygous/homozygous mutations were found in eleven infertile females (p.A313V, p.C239W, p.R251Q, p.P358L, and p.G96R). The Exome Aggregation Consortium (ExAC), SIFT, and PolyPhen-2 analyses revealed that p. A313V has unknown pathogenicity and p.C239W, p.R251Q, p.P358L, and p.G96R have possible pathogenicity. The wild-type (WT) and four mutant gene constructs were transfected to Hela cells. The Western blot analysis indicates that the TUBB8 expression of the p.C239W, p.R251Q, and p.G96R mutations was significantly decreased than that of WT. The immunofluorescence assay showed that the Hela cells transfected with either p.C239W, p.R251Q, or p.G96R mutations exhibited the disrupted microtubule structure, revealing a significant difference in the organization of the microtubule network compared to the WT.
conclusionsWe identified three novel variants and two reported variants out of 11 infertile women with oocyte metaphase I arrest. According to the present data, TUBB8 gene variants account for 31.96% of all participants (109/341) with oocyte maturation arrest.
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