ArticleHuman molecular genetics2021
Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.
Article in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 55 citations in OpenAlex.
- The New Nexin-Dynein Regulatory Complex Component CCDC153 Is Dispensable for Ciliary Motility and Fertility in Mice.Cytoskeleton (Hoboken, N.J.) · 2026Article
- Bioinformatics and clinical analysis of CETN2's impact on platinum resistance and prognosis in epithelial ovarian cancer.Journal of ovarian research · 2026Article
- Pericentric inversion in chromosome 2 and their fertility issues: three cases report and literature review.Open medicine (Warsaw, Poland) · 2026Article
- Pathogenic Variants in PET Complex Encoding GenesHuman mutation · 2026Article
- ANKEF1 is a key axonemal component essential for murine sperm motility and male fertility.eLife · 2025Article
- Of mice and men: translating mouse knockout models of human male infertility.Reproduction (Cambridge, England) · 2025Review
- PCM1 orchestrates centrosomal and flagellar protein transport to promote sperm maturation.Communications biology · 2025Article
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Core N-DRC components play a crucial role in embryonic development and postnatal organ development.Cell death & disease · 2025Article
- CFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility.Cellular and molecular life sciences : CMLS · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Review
- CCDC181 is required for sperm flagellum biogenesis and male fertility in mice.Zoological research · 2024Article
- Comparative Genomics Supports Ecologically Induced Selection as a Putative Driver of Banded Penguin Diversification.Molecular biology and evolution · 2024Article
- Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family.Asian journal of andrology · 2024Article
- Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility.Journal of human genetics · 2024Article
- ZMYND12 serves as an IDAd subunit that is essential for sperm motility in mice.Cellular and molecular life sciences : CMLS · 2024Article
- Review
- DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath.Cell death & disease · 2023Article
- Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.JCI insight · 2023Article
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Authors and funding
18 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Motile cilia and flagellar defects can result in primary ciliary dyskinesia, which is a multisystemic genetic disorder that affects roughly 1:10 000 individuals. The nexin-dynein regulatory complex (N-DRC) links neighboring doublet microtubules within flagella, serving as a central regulatory hub for motility in Chlamydomonas. Herein, we identified two homozygous DRC1 variants in human patients that were associated with multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility. Drc1-/-, Drc1R554X/R554X and Drc1W244X/W244X mice on the C57BL/6 background suffered from pre-pubertal mortality. However, when the ICR background was introduced, some of these mice were able to survive and recapitulate the MMAF phenotypes detected in human patients. By analyzing these animals, we determined that DRC1 is an essential regulator of N-DRC assembly in cilia and flagella. When DRC1 is absent, this results in the shortening of cilia and consequent impairment of their motility. Damage associated with DRC1 deficiency in sperm flagella was more pronounced than in cilia, as manifested by complete axoneme structural disorder in addition to the loss of the DRC structure. Altogether, these findings suggest that DRC1 is required for the structural stability of flagella but not cilia, emphasizing the key role of this protein in mammalian species.
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