ArticlePLoS genetics2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Article in PLoS genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.Clinical genetics · 2026Review
- Structure Makes a Difference: IFT Complex in Ciliary Function and Ciliopathy.Cytoskeleton (Hoboken, N.J.) · 2026Review
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.Pediatric research · 2026Article
- Profiling truncated variants of TCTN1 unveils the essential role of its integrity for ciliogenesis.iScience · 2025Article
- Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation ofbioRxiv : the preprint server for biology · 2025Article
- Role of intraflagellar transport protein IFT140 in the formation and function of motile cilia in mammals.Cellular and molecular life sciences : CMLS · 2025Article
- Transcriptome-wide N6-methyladenosinem modifications analysis of chicken cecum in responding toFrontiers in immunology · 2025Article
- Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects.Scientific reports · 2024Article
- Spatiotemporal dynamics of primary and motile cilia throughout lung development.bioRxiv : the preprint server for biology · 2024Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024Article
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Research square · 2023Article
- Deletion of IFT20 exclusively in the RPE ablates primary cilia and leads to retinal degeneration.PLoS biology · 2023Article
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26 authors at 10 institutions in 5 countries.
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Abstract
Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their assembly depends entirely on proteins synthesized in the cell body and transported into the cilium by intraflagellar transport (IFT). In mammals, malfunction of non-motile cilia due to IFT dysfunction results in complex developmental phenotypes that affect most organs. In contrast, disruption of motile cilia function causes subfertility, disruption of the left-right body axis, and recurrent airway infections with progressive lung damage. In this work, we characterize allele specific phenotypes resulting from IFT74 dysfunction in human and mice. We identified two families carrying a deletion encompassing IFT74 exon 2, the first coding exon, resulting in a protein lacking the first 40 amino acids and two individuals carrying biallelic splice site mutations. Homozygous exon 2 deletion cases presented a ciliary chondrodysplasia with narrow thorax and progressive growth retardation along with a mucociliary clearance disorder phenotype with severely shorted cilia. Splice site variants resulted in a lethal skeletal chondrodysplasia phenotype. In mice, removal of the first 40 amino acids likewise results in a motile cilia phenotype but with little effect on primary cilia structure. Mice carrying this allele are born alive but are growth restricted and developed hydrocephaly in the first month of life. In contrast, a strong, likely null, allele of Ift74 in mouse completely blocks ciliary assembly and causes severe heart defects and midgestational lethality. In vitro studies suggest that the first 40 amino acids of IFT74 are dispensable for binding of other IFT subunits but are important for tubulin binding. Higher demands on tubulin transport in motile cilia compared to primary cilia resulting from increased mechanical stress and repair needs could account for the motile cilia phenotype observed in human and mice.
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