ArticleG3 (Bethesda, Md.)2016
Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.
Article in G3 (Bethesda, Md.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 48 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
- ANKEF1 is a key axonemal component essential for murine sperm motility and male fertility.eLife · 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
- LRRC56 deficiency cause motile ciliopathies in humans and mice.Frontiers in genetics · 2025Article
- A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.Journal of cellular and molecular medicine · 2024Article
- Effects ofHuman reproduction open · 2024Article
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- Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.Human genomics · 2023Article
- The role of a ciliary GTPase in the regulation of neuronal maturation of olfactory sensory neurons.Development (Cambridge, England) · 2023Article
- Effect of cilia-induced surface velocity on cerebrospinal fluid exchange in the lateral ventricles.Journal of the Royal Society, Interface · 2022Article
- PCD Genes-From Patients to Model Organisms and Back to Humans.International journal of molecular sciences · 2022Review
- Ependymal Cilia: Physiology and Role in Hydrocephalus.Frontiers in molecular neuroscience · 2022Review
- Coupled protein synthesis and ribosome-guided piRNA processing on mRNAs.Nature communications · 2021Article
- Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.Human molecular genetics · 2021Article
- The regulatory roles of motile cilia in CSF circulation and hydrocephalus.Fluids and barriers of the CNS · 2021Review
- Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.PLoS genetics · 2021Article
- Motile cilia genetics and cell biology: big results from little mice.Cellular and molecular life sciences : CMLS · 2021Review
- Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.Experimental neurology · 2021Review
- Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.Molecular medicine reports · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
We have previously described a forward genetic screen in mice for abnormalities of brain development. Characterization of two hydrocephalus mutants by whole-exome sequencing after whole-genome SNP mapping revealed novel recessive mutations in Dnaaf1 and Lrrc48 Mouse mutants of these two genes have not been previously reported. The Dnaaf1 mutant carries a mutation at the splice donor site of exon 4, which results in abnormal transcripts. The Lrrc48 mutation is a missense mutation at a highly conserved leucine residue, which is also associated with a decrease in Lrrc48 transcription. Both Dnaaf1 and Lrrc48 belong to a leucine-rich repeat-containing protein family and are components of the ciliary axoneme. Their Chlamydomonas orthologs are known to be required for normal ciliary beat frequency or flagellar waveform, respectively. Some Dnaaf1 or Lrrc48 homozygote mutants displayed laterality defects, suggesting a motile cilia defect in the embryonic node. Mucus accumulation and neutrophil infiltration in the maxillary sinuses suggested sinusitis. Dnaaf1 mutants showed postnatal lethality, and none survived to weaning age. Lrrc48 mutants survive to adulthood, but had male infertility. ARL13B immunostaining showed the presence of motile cilia in the mutants, and the distal distribution of DNAH9 in the axoneme of upper airway motile cilia appeared normal. The phenotypic abnormalities suggest that mutations in Dnaaf1 and Lrrc48 cause defects in motile cilia function.
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Registered trials
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