ArticleThe Journal of clinical investigation2015
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
Article in The Journal of clinical investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers, 1 of them a synthesis that pooled it.
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Who cites it
105 citing papers in PubMed, 1 synthesis or guideline pooled it, 232 citations in OpenAlex.
- Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.Nature communications · 2019Pooled it
- Chromosomal and genetic causes of primary ovarian insufficiency in the Utah population.Journal of the Endocrine Society · 2026Article
- Experimental Validation and Computational Deconstruction of Downstream Mutations in MIR5195: Integrating Whole-Exome Sequencing, Structural Dynamics, and Molecular Docking to Decipher Transcriptional Reprogramming in CML.Cell biochemistry and biophysics · 2026Article
- Structural Activation of DNA Unwinding by MCM8/9/HROB.bioRxiv : the preprint server for biology · 2026Article
- Association of MUC3A P258S mutation with advanced phase CML structural and in silico insights.Functional & integrative genomics · 2026Article
- Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.Journal of assisted reproduction and genetics · 2026Article
- Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause.JCI insight · 2025Article
- MCM8/9 and FANCD2 interact within a shared pathway in response to replication stress caused by DNA crosslinks.DNA repair · 2025Article
- AmNA-Modified Antisense Oligonucleotide Targeting MCM8 as a Cancer-Specific Chemosensitizer for Platinum Compounds.Cancer science · 2025Article
- A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.Journal of assisted reproduction and genetics · 2025Article
- Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring.Nature aging · 2024Review
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case-Control Study.Hematology reports · 2024Article
- MCM8 interacts with DDX5 to promote R-loop resolution.The EMBO journal · 2024Article
- Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice.Science China. Life sciences · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- A Human HomozygousGenes · 2024Article
- Micronutrients intake and genetic variants associated with premature ovarian insufficiency; MASHAD cohort study.BMC women's health · 2024Article
- Investigation of an MCM8 gene variant in women with premature ovarian insufficiency.Einstein (Sao Paulo, Brazil) · 2024Article
45 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occur in isolation. Here, we studied 3 sisters with primary amenorrhea, hypothyroidism, and hypergonadotropic hypogonadism. The sisters were born to parents who are first cousins. SNP analysis and whole-exome sequencing revealed the presence of a pathogenic variant of the minichromosome maintenance 8 gene (MCM8, c.446C>G; p.P149R) located within a region of homozygosity that was present in the affected daughters but not in their unaffected sisters. Because MCM8 participates in homologous recombination and dsDNA break repair, we tested fibroblasts from the affected sisters for hypersensitivity to chromosomal breaks. Compared with fibroblasts from unaffected daughters, chromosomal break repair was deficient in fibroblasts from the affected individuals, likely due to inhibited recruitment of MCM8 p.P149R to sites of DNA damage. Our study identifies an autosomal recessive disorder caused by an MCM8 mutation that manifests with endocrine dysfunction and genomic instability.
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