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  Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

Horváth, J., Fliegauf, M., Olbrich, H., Kispert, A., King, S. M., Mitchison, H., et al. (2005). Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. American Journal of Respiratory Cell and Molecular Biology, 33(1), 41-47. doi:10.1165/rcmb.2004-0335OC.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-867B-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-867C-B
Genre: Journal Article
Alternative Title : Am J Respir Cell Mol Biol

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 Creators:
Horváth, Judit, Author
Fliegauf, Manfred, Author
Olbrich, Heike, Author
Kispert, Andreas, Author
King, Stephen M., Author
Mitchison, Hannah, Author
Zariwala, Maimoona A., Author
Knowles, Michael R., Author
Sudbrak, Ralf1, Author              
Fekete, György, Author
Neesen, Juergen, Author
Reinhardt, Richard2, Author              
Omran, Heymut, Author
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
2High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              

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Free keywords: cilia; primary ciliary dyskinesia; light chain; dynein
 Abstract: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic infections of the upper and lower airways, randomization of left/right body asymmetry, and reduced fertility. The phenotype results from dysfunction of motile cilia of the respiratory epithelium, at the embryonic node and of sperm flagella. Ultrastructural defects often involve outer dynein arms (ODAs), that are composed of several light (LCs), intermediate, and heavy (HCs) dynein chains. We recently showed that recessive mutations of DNAH5, the human ortholog of the biflagellate Chlamydomonas ODA {gamma}-HC, cause PCD. In Chlamydomonas, motor protein activity of the {gamma}-ODA-HC is regulated by binding of the axonemal LC1. We report the identification of the human (DNAL1) and murine (Dnal1) orthologs of the Chlamydomonas LC1-gene. Northern blot and in situ hybridization analyses revealed specific expression in testis, embryonic node, respiratory epithelium, and ependyma, resembling the DNAH5 expression pattern. In silico protein analysis showed complete conservation of the LC1/{gamma}-HC binding motif in DNAL1. Protein interaction studies demonstrated binding of DNAL1 and DNAH5. Based on these findings, we considered DNAL1 a candidate for PCD and sequenced all exons of DNAL1 in 86 patients. Mutational analysis was negative, excluding a major role of DNAL1 in the pathogenesis of PCD.

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Language(s): eng - English
 Dates: 2005-04-21
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 271588
DOI: 10.1165/rcmb.2004-0335OC
 Degree: -

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Title: American Journal of Respiratory Cell and Molecular Biology
  Alternative Title : Am J Respir Cell Mol Biol
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 33 (1) Sequence Number: - Start / End Page: 41 - 47 Identifier: ISSN: 1044-1549