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Characterization of the medaka (Oryzias latipes) primary ciliary dyskinesia mutant, jaodori: Redundant and distinct roles of dynein axonemal intermediate chain 2 (dnai2) in motile cilia
- Source :
- Developmental Biology. 347:62-70
- Publication Year :
- 2010
- Publisher :
- Elsevier BV, 2010.
-
Abstract
- Cilia and flagella are highly conserved organelles that have diverse motility and sensory functions. Motility defects in cilia and flagella result in primary ciliary dyskinesia (PCD). We isolated a novel medaka PCD mutant, jaodori (joi). Positional cloning showed that axonemal dynein intermediate chain 2 (dnai2) is responsible for joi. The joi mutation was caused by genomic insertion of the medaka transposon, Tol1. In the joi mutant, cilia in Kupffer's vesicle (KV), an organ functionally equivalent to the mouse node in terms of left–right (LR) specification, are generated but their motility is disrupted, resulting in a LR defect. Ultrastructural analysis revealed severe reduction in the outer dynein arms in KV cilia of joi mutants. We also found the other dnai2 gene in the medaka genome. These two dnai2 genes function either redundantly or distinctly in tissues possessing motile cilia.
- Subjects :
- Fish Proteins
Tail
Embryo, Nonmammalian
Positional cloning
Movement
DNA Mutational Analysis
Molecular Sequence Data
Dynein
Oryzias
Motility
Biology
Flagellum
Kidney
Primary ciliary dyskinesia
Intraflagellar transport
medicine
Animals
Cilia
RNA, Messenger
Molecular Biology
Body Patterning
Genetics
Base Sequence
Kartagener Syndrome
Cilium
Gene Expression Regulation, Developmental
Axonemal Dyneins
Cell Biology
medicine.disease
Medaka
Cell biology
Cyst
Phenotype
Organ Specificity
Mutation
Motile cilium
Rheology
Biomarkers
Developmental Biology
Subjects
Details
- ISSN :
- 00121606
- Volume :
- 347
- Database :
- OpenAIRE
- Journal :
- Developmental Biology
- Accession number :
- edsair.doi.dedup.....54250531a59ccca25a0e8d3736a57d0c