ArticleAmerican journal of human genetics2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 69 citations in OpenAlex.
- LRRC71 is essential for sperm motility, fertilization, and male fertility.The Journal of biological chemistry · 2026Article
- Research Progress on the Mechanisms of High Mucus Secretion in the Airway: A Scoping Review.International journal of chronic obstructive pulmonary disease · 2026Article
- Physical and functional interaction of the ciliopathy proteins Lrrc56 and Odad3 control deployment of axonemal dyneins in vertebrate multiciliated cells.Disease models & mechanisms · 2025Article
- DynAPs and cytoplasmic assembly of axonemal dyneins.Journal of cell science · 2025Article
- Structural diversity and unity amongst axonemal dynein assembly factors.Journal of cell science · 2025Review
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Leucine-rich repeat-containing 56 promotes breast cancer progression via modulation of the RhoA/ROCKs signaling axis.Molecular biomedicine · 2025Article
- An amino acid-resolution interactome for motile cilia identifies the structure and function of ciliopathy protein complexes.Developmental cell · 2025Article
- LRRC56 deletion causes primary ciliary dyskinesia in mice characterized by dynein arms defects.Biology open · 2025Article
- Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.BMC genomics · 2025Article
- LRRC56 deficiency cause motile ciliopathies in humans and mice.Frontiers in genetics · 2025Article
- Cytoplasmic preassembly of the flagellar outer dynein arm complex inMolecular biology of the cell · 2024Article
- LRRC56 is an IFT cargo required for assembly of the distal dynein docking complex inMolecular biology of the cell · 2024Article
- Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.Scientific reports · 2024Article
- IFT88 maintains sensory function by localising signalling proteins alongLife science alliance · 2024Article
- Single cell RNA analysis of the left-right organizer transcriptome reveals potential novel heterotaxy genes.Scientific reports · 2023Article
- Article
- Review
- PIH1D3-knockout rats exhibit full ciliopathy features and dysfunctional pre-assembly and loading of dynein arms in motile cilia.Frontiers in cell and developmental biology · 2023Article
- Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.Journal of assisted reproduction and genetics · 2023Article
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Authors and funding
25 authors at 9 institutions in 3 countries.
Funding
Abstract
Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality defects occur in about 50% of such individuals. Here we report biallelic variants in LRRC56 (known as oda8 in Chlamydomonas) identified in three unrelated families. The phenotype comprises laterality defects and chronic pulmonary infections. High-speed video microscopy of cultured epithelial cells from an affected individual showed severely dyskinetic cilia but no obvious ultra-structural abnormalities on routine transmission electron microscopy (TEM). Further investigation revealed that LRRC56 interacts with the intraflagellar transport (IFT) protein IFT88. The link with IFT was interrogated in Trypanosoma brucei. In this protist, LRRC56 is recruited to the cilium during axoneme construction, where it co-localizes with IFT trains and is required for the addition of dynein arms to the distal end of the flagellum. In T. brucei carrying LRRC56-null mutations, or a variant resulting in the p.Leu259Pro substitution corresponding to the p.Leu140Pro variant seen in one of the affected families, we observed abnormal ciliary beat patterns and an absence of outer dynein arms restricted to the distal portion of the axoneme. Together, our findings confirm that deleterious variants in LRRC56 result in a human disease and suggest that this protein has a likely role in dynein transport during cilia assembly that is evolutionarily important for cilia motility.
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