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Medaka pp 131-156 | Cite as

Primary Ciliary Dyskinesia in Fish:The Analysis of a Novel Medaka Mutant Kintoun

  • Daisuke Kobayashi
  • Hiroyuki Takeda

Abstract

Primary ciliary dyskinesia (PCD) is a phenotypically and genetically heterogeneous disorder manifested as dysfunction of motile cilia. Recent investigations using medaka and zebrafish as disease model systems have contributed to the current understanding of the formation and function of motile cilia. This chapter summarizes these data.

We also present our recent investigations of a novel PCD gene, kintoun (ktu), which was discovered in a medaka mutant. This gene was found to be mutated in patients with PCD from two affected families, as well as in the Chlamydomonas pf13 mutant. In the absence of Ktu/PF13, both outer and inner dynein arms are missing or are defective in the axoneme, leading to a loss of motility. Biochemical and immunohistochemical studies show that Ktu/PF13 is one of the long-sought proteins involved in cytoplasmic preassembly of dynein arm complexes before intraflagellar transport loading into the ciliary compartment.

Keywords

Primary Ciliary Dyskinesia Situs Inversus Central Pair Ciliary Motility Morpholino Antisense Oligonucleotide 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

DRC

Dynein regulatory complex

IDA

Inner dynein arm

IFT

Intraflagellar transport

KTU/Ktu

Kintoun

KV

Kupffer’s vesicle

MT

Microtubule

ODA

Outer dynein arm

OMIM

Online Mendelian inheritance in man

PCD

Primary ciliary dyskinesia

TEM

Transmission electron microscopy

Notes

Acknowledgments

The analysis of ktu using the mouse has been done in collaboration with Prof. Yoshinori Watanabe (Institute of Molecular and Cellular Biosciences, University of Tokyo). Mutant screening was supported by the National Institute of Genetics (Mishima, Japan). We are extremely grateful to all the members of our mutant screening team.

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© Springer 2011

Authors and Affiliations

  1. 1.Department of Anatomy and Developmental BiologyGraduate School of Medical Science, Kyoto Prefectural University of MedicineKyotoJapan
  2. 2.Department of Biological SciencesGraduate School of Science, The University of Tokyo,TokyoJapan

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