| RRC ID |
11435
|
| 著者 |
Kobayashi D, Iijima N, Hagiwara H, Kamura K, Takeda H, Yokoyama T.
|
| タイトル |
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.
|
| ジャーナル |
Dev Biol
|
| 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.
|
| 巻・号 |
347(1)
|
| ページ |
62-70
|
| 公開日 |
2010-11-1
|
| DOI |
10.1016/j.ydbio.2010.08.008
|
| PII |
S0012-1606(10)01000-6
|
| PMID |
20709053
|
| MeSH |
Animals
Axonemal Dyneins / genetics*
Axonemal Dyneins / metabolism
Base Sequence
Biomarkers / metabolism
Body Patterning
Cilia / metabolism*
Cilia / pathology
DNA Mutational Analysis
Embryo, Nonmammalian / abnormalities
Embryo, Nonmammalian / metabolism
Embryo, Nonmammalian / pathology
Fish Proteins / genetics*
Gene Expression Regulation, Developmental
Kartagener Syndrome / genetics*
Kartagener Syndrome / pathology
Molecular Sequence Data
Movement / physiology*
Mutation / genetics*
Organ Specificity
Oryzias / embryology
Oryzias / genetics*
Phenotype
RNA, Messenger / genetics
RNA, Messenger / metabolism
Rheology
Tail
|
| IF |
2.896
|
| 引用数 |
6
|
|
WOS 分野
|
DEVELOPMENTAL BIOLOGY
|
| リソース情報 |
| メダカ |
hatching enzyme
d-rR/TOKYO (MT837)
HNI-II (IB176) |
