ArticleJCI insight2022
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
Article in JCI insight, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
- The mCells · 2026Review
- Molecular genetics of meiotic initiation in mammals.Biology of reproduction · 2026Article
- Emerging roles of mJournal of assisted reproduction and genetics · 2026Review
- Unravelling Multilayered RNA Modification Networks in Female Reproduction and Obstetric/Gynaecologic Disorders.Biomolecules · 2026Review
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- Epitranscriptomic modifications in embryonic development: insights into natural and ART-induced mechanisms and implications.Human reproduction update · 2026Review
- RNA modification systems as therapeutic targets.Nature reviews. Drug discovery · 2026Review
- A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Aberrant downregulation of Y-box binding protein 1 expression impairs the cell cycle in an mCellular and molecular life sciences : CMLS · 2025Article
- Mapping the anatomical and transcriptional landscape of early human fetal ovary development.Scientific reports · 2025Article
- Epigenetic regulation in female reproduction: the impact of m6A on maternal-fetal health.Cell death discovery · 2025Review
- Transcriptome-wide N6-methyladenosine modification profiling of long non-coding RNAs in patients with recurrent implantation failure.BMC medical genomics · 2024Article
- A homozygous missense variant in YTHDC2 induces azoospermia in two siblings.Molecular genetics and genomics : MGG · 2024Article
- The biological function of the N6-Methyladenosine reader YTHDC2 and its role in diseases.Journal of translational medicine · 2024Review
- Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA mNature communications · 2024Article
- Whole transcriptome screening for novel genes involved in meiosis and fertility in Drosophila melanogaster.Scientific reports · 2024Article
- LncRNA HOTAIR regulates autophagy and proliferation mechanisms in premature ovarian insufficiency through the miR-148b-3p/ATG14 axis.Cell death discovery · 2024Article
- RNA editing landscape of adipose tissue in polycystic ovary syndrome provides insight into the obesity-related immune responses.Frontiers in endocrinology · 2024Article
- Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Frontiers in endocrinology · 2023Article
- Management of a Girl With Delayed Puberty and Elevated Gonadotropins.Journal of the Endocrine Society · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 8 institutions in 4 countries.
Funding
Abstract
Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved in early fetal ovary development and function. Recently, Ythdc2, an RNA helicase and N6-methyladenosine reader, has emerged as a regulator of meiosis in mice. Here, we describe homozygous pathogenic variants in YTHDC2 in 3 women with early-onset POI from 2 families: c. 2567C>G, p.P856R in the helicase-associated (HA2) domain and c.1129G>T, p.E377*. We demonstrated that YTHDC2 is expressed in the developing human fetal ovary and is upregulated in meiotic germ cells, together with related meiosis-associated factors. The p.P856R variant resulted in a less flexible protein that likely disrupted downstream conformational kinetics of the HA2 domain, whereas the p.E377* variant truncated the helicase core. Taken together, our results reveal that YTHDC2 is a key regulator of meiosis in humans and pathogenic variants within this gene are associated with POI.
Indexed as
Identifiers
What OpenQuestion holds
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.