ArticleJournal of medical genetics2016
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
65 citing papers in PubMed, 2 syntheses or guidelines pooled it, 159 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
- A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.Reproduction (Cambridge, England) · 2022Pooled it
- Novel and recurrent TUBB8 variants cause irreversible meiotic spindle defects and refractory ART failure in Chinese women with oocyte maturation arrest.Journal of assisted reproduction and genetics · 2026Article
- Post-Translational Modifications of Tubulin in Oocyte Maturation and Female Infertility.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Genetic Mutations and Non-Genomic Dysregulation in Human Preimplantation Embryo Arrest.International journal of molecular sciences · 2026Review
- Genetic landscape of human oocyte/embryo defects.Cell genomics · 2026Article
- Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility.Nature medicine · 2026Article
- Article
- Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Novel Genetic Variants inInternational journal of medical sciences · 2025Article
- Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibition.Clinical and translational medicine · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.Journal of assisted reproduction and genetics · 2024Article
- Early embryonic failure caused by a novel mutation in theWorld journal of clinical cases · 2024Article
- Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.Advances in anatomy, embryology, and cell biology · 2024Review
- 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
- Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects.Human genetics · 2023Article
- Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.BMC medical genomics · 2023Article
- Ectopic expression of human TUBB8 leads to increased aneuploidy in mouse oocytes.Cell discovery · 2023Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundTUBB8 is a primate-specific β-tubulin isotype whose expression is confined to oocytes and the early embryo. We previously found that mutations in TUBB8 caused oocyte maturation arrest. The objective was to describe newly discovered mutations in TUBB8 and to characterise the accompanying spectrum of phenotypes and modes of inheritance. METHODS AND
resultsPatients with oocyte maturation arrest were sequenced with respect to TUBB8. We investigated the effects of identified mutations in vitro, in cultured cells and in mouse oocytes. Seven heterozygous missense and two homozygous mutations were identified. These mutations cause a range of folding defects in vitro, different degrees of microtubule disruption upon expression in cultured cells and interfere to varying extents in the proper assembly of the meiotic spindle in mouse oocytes. Several of the newly discovered TUBB8 mutations result in phenotypic variability. For example, oocytes harbouring any of three missense mutations (I210V, T238M and N348S) could extrude the first polar body. Moreover, they could be fertilised, although the ensuing embryos became developmentally arrested. Surprisingly, oocytes from patients harbouring homozygous TUBB8 mutations that in either case preclude the expression of a functional TUBB8 polypeptide nonetheless contained identifiable spindles.
conclusionsOur data substantially expand the range of dysfunctional oocyte phenotypes incurred by mutation in TUBB8, underscore the independent nature of human oocyte meiosis and differentiation, extend the class of genetic diseases known as the tubulinopathies and provide new criteria for the qualitative evaluation of meiosis II (MII) oocytes for in vitro fertilization (IVF).
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Registered trials
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.