ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- PRDM9-mediated meiotic hotspot specification is constrained in humans despite extensive sequence diversity.bioRxiv : the preprint server for biology · 2026Article
- Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.Journal of assisted reproduction and genetics · 2026Article
- Novel variants in MEI1 cause female infertility characterized by early embryonic arrest and implantation failure.Journal of assisted reproduction and genetics · 2026Article
- Meiotic gene variants contribute to recurrent blastulation failure.Human reproduction open · 2026Article
- Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency.Journal of human genetics · 2025Article
- Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause.JCI insight · 2025Article
- Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.Human genetics · 2024Article
- Natural variation in the zinc-finger-encoding exon of Prdm9 affects hybrid sterility phenotypes in mice.Genetics · 2024Article
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Essential roles of the ANKRD31-REC114 interaction in meiotic recombination and mouse spermatogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- DNA double-strand break genetic variants in patients with premature ovarian insufficiency.Journal of ovarian research · 2023Review
- Review
- TP63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis.The Journal of clinical investigation · 2023Article
- Prdm9 deficiency of rat oocytes causes synapsis among non-homologous chromosomes and aneuploidy.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe etiology of premature ovarian insufficiency (POI) is heterogeneous, and genetic factors account for 20-25% of the patients. The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. The objective of the study is to explore the role of DSB formation genes in POI pathogenesis.
methodsVariants in DSB formation genes were analyzed from a database of exome sequencing in 1,030 patients with POI. The pathogenic effects of the potentially causative variants were verified by further functional studies.
resultsThree pathogenic heterozygous variants in PRDM9 and two in ANKRD31 were identified in seven patients. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity, and the ANKRD31 variations disturbed its interaction with another DSB formation factor REC114 by haploinsufficiency effect, indicating the pathogenic effects of the two genes on ovarian function were dosage dependent.
conclusionOur study identified pathogenic variants of PRDM9 and ANKRD31 in POI patients, shedding new light on the contribution of meiotic DSB formation genes in ovarian development, further expanding the genetic architecture of POI.
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