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.
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.
Kobayashi
Daisuke
D
Department of Anatomy and Developmental Biology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kyoto 602-8566, Japan.
Iijima
Norio
N
Hagiwara
Haruo
H
Kamura
Keiichiro
K
Takeda
Hiroyuki
H
Yokoyama
Takahiko
T
D000818:Animals; D056444:Axonemal Dyneins / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D015415:Biomarkers / Q000378:metabolism; D019521:Body Patterning; D002923:Cilia / Q000378:metabolism* / Q000473:pathology; D004252:DNA Mutational Analysis; D004625:Embryo, Nonmammalian / Q000002:abnormalities / Q000378:metabolism / Q000473:pathology; D029941:Fish Proteins / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D007619:Kartagener Syndrome / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009068:Movement / Q000502:physiology*; D009154:Mutation / Q000235:genetics*; D009928:Organ Specificity; D009990:Oryzias / Q000196:embryology / Q000235:genetics*; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012212:Rheology; D013623:Tail
D015415:Biomarkers; D029941:Fish Proteins; D012333:RNA, Messenger; D056444:Axonemal Dyneins