ArticleHuman genetics2022
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis.PloS one · 2025Pooled it
- Loss-of-function mutations in Ccdc113 cause male infertility in both humans and mice.Asian journal of andrology · 2026Article
- Report of two patients with variants in FOXL2 and KASH5 and review of gestational trophoblastic neoplasia after recurrent moles.Journal of assisted reproduction and genetics · 2026Article
- Two compound heterozygous MEIOSIN (likely) pathogenic variants cause female infertility with premature ovarian insufficiency through the disruption of meiosis-related gene transcription.Journal of ovarian research · 2026Article
- Article
- Forceful Beginnings: Mechanotransduction and Mechanosensation at the Meiotic Cell Nucleus During Gamete Development.Results and problems in cell differentiation · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.Cell death discovery · 2025Article
- Telomeres, the nuclear lamina, and membrane remodeling: Orchestrating meiotic chromosome movements.The Journal of cell biology · 2025Review
- Azoospermia/Oligozoospermia and Prostate Cancer Are Increased in Families of Women With Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2025Article
- Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.The Journal of clinical investigation · 2024Article
- A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.Journal of assisted reproduction and genetics · 2024Article
- Characterization of latently infected EBV+ antibody-secreting B cells isolated from ovarian tumors and malignant ascites.Frontiers in immunology · 2024Article
- Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos.Journal of assisted reproduction and genetics · 2023Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- A homozygousFrontiers in endocrinology · 2023Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
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Abstract
Non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) represent the most serious forms of human infertility caused by gametogenic failure. Although whole-exome sequencing (WES) has uncovered multiple monogenic causes of human infertility, our knowledge of the genetic basis of human gametogenesis defects remains at a rudimentary stage. Coiled-coil-domain-containing protein 155 (CCDC155) encodes a core component of the linker of the nucleoskeleton and cytoskeleton complex that is essential for modulating telomere-led chromosome movements during the meiotic prophase of mice. Additionally, Ccdc155 deficiency in mice causes infertility in both sexes with meiotic arrest. In this study, we applied WES to identify the pathogenic genes for 15 NOA and POI patients whose parents were consanguineous and identified a novel homozygous missense mutation in CCDC155 [c.590T>C (p.Leu197Pro)] in a pair of familial NOA and POI patients whose parents were first cousins. The affected spermatocytes were unable to complete meiotic division coupled with unresolved repair of the DNA double-strand break. This rare missense mutation with lesions in the conserved CC domain of CCDC155 blocked nuclear envelope (NE) distribution and subsequently prevented NE-specific enrichment of Sad1- and UNC84-domain-containing 1 either ex vivo or in vitro, eventually leading to disruptive NE anchoring of chromosome-induced meiotic arrest in both sexes. This study presents the first evidence of the necessity of the SUN1-CCDC155 complex during human meiosis and provides insight into the CCDC155 CC domain, thereby expanding the genetic spectrum of human NOA and POI and promoting adequate genetic counselling and appropriate fertility guidance for these patients.
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