ArticleNature communications2019
Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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Who cites it
27 citing papers in PubMed, 39 citations in OpenAlex.
- Differential expression of long non-coding RNA in the hypothalamus-pituitary-gonadal axis of Wanxi white geese during laying and broodiness periods.Animal bioscience · 2026Article
- Proteomic Profiles of Seminal Plasma in Individuals with Secondary Infertility: Insights into the Involvement of Oxidative Stress.Journal of clinical medicine · 2026Article
- Longitudinal Genome-Wide Association Study for Female Fertility Traits in German Holstein Cattle.Animal genetics · 2026Article
- Major depressive disorder and anti-depressant therapy markedly alters the human follicular niche DNA methylome.Reproduction (Cambridge, England) · 2025Article
- Integrated Transcriptomic and Metabolomic Analysis Reveals Regulatory Effects of Fermented Chinese Chive on Early Testicular Development in Piglets.Antioxidants (Basel, Switzerland) · 2025Article
- Potential Association of theInternational journal of molecular sciences · 2025Article
- The role of complement in normal pregnancy and preeclampsia.Frontiers in immunology · 2025Review
- In-depth investigation of genome to refine QTL positions for spontaneous sex-reversal in XX rainbow trout.PloS one · 2025Article
- The complement system in neurodegenerative diseases.Clinical science (London, England : 1979) · 2024Article
- FromiScience · 2024Article
- Getah virus triggers ROS-mediated autophagy in mouse Leydig cells.Frontiers in microbiology · 2024Article
- Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort.Biomedicines · 2023Article
- Single-cell RNA sequencing reveals the fragility of male spermatogenic cells to Zika virus-induced complement activation.Nature communications · 2023Article
- Article
- Complementing Testicular Immune Regulation: The Relationship between Sertoli Cells, Complement, and the Immune Response.International journal of molecular sciences · 2023Review
- Review
- Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing.Journal of assisted reproduction and genetics · 2022Article
- Acute myeloid leukemia secondary to acute B lymphoblastic leukemia treated with maintenance therapy in a child: A case report.Cancer reports (Hoboken, N.J.) · 2022Article
- Membrane attack complexes, endothelial cell activation, and direct allorecognition.Frontiers in immunology · 2022Review
- Genome-Wide Estimates of Runs of Homozygosity, Heterozygosity, and Genetic Load in Two Chinese Indigenous Goat Breeds.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
Abstract
Infertility in men and women is a complex genetic trait with shared biological bases between the sexes. Here, we perform a series of rare variant analyses across 73,185 women and men to identify genes that contribute to primary gonadal dysfunction. We report CSMD1, a complement regulatory protein on chromosome 8p23, as a strong candidate locus in both sexes. We show that CSMD1 is enriched at the germ-cell/somatic-cell interface in both male and female gonads. Csmd1-knockout males show increased rates of infertility with significantly increased complement C3 protein deposition in the testes, accompanied by severe histological degeneration. Knockout females show significant reduction in ovarian quality and breeding success, as well as mammary branching impairment. Double knockout of Csmd1 and C3 causes non-additive reduction in breeding success, suggesting that CSMD1 and the complement pathway play an important role in the normal postnatal development of the gonads in both sexes.
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Registered trials
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