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  Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

Olbrich, H., Häffner, K., Kispert, A., Völkel, A., Volz, A., Sasmaz, G., et al. (2002). Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry. Nature Genetics, 30(2), 143-144.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C78-0 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C79-E
Genre: Journal Article

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 Creators:
Olbrich, Heike, Author
Häffner, Karsten, Author
Kispert, Andreas, Author
Völkel, Alexander, Author
Volz, Andreas, Author
Sasmaz, Gürsel, Author
Reinhardt, Richard1, Author              
Hennig, Steffen2, Author              
Lehrach, Hans2, Author              
Konietzko, Nikolaus, Author
Zariwala, Maimoona, Author
Noone, Peadar G., Author
Knowles, Michael, Author
Mitchison, Hannah M., Author
Meeks, Maggie, Author
Chung, Eddie M. K., Author
Hildebrandt, Friedhelm, Author
Sudbrak, Ralf2, Author              
Omran, Heymut, Author
Affiliations:
1High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              
2Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected offspring have situs inversus (reversed organs), which results from randomization of left-right (LR) asymmetry1. We previously localized to chromosome 5p a PCD locus containing DNAH5, which encodes a protein highly similar to the Chlamydomonas -dynein heavy chain2. Here we characterize the full-length 14-kb transcript of DNAH5. Sequence analysis in individuals with PCD with randomization of LR asymmetry identified mutations resulting in non-functional DNAH5 proteins.

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Language(s): eng - English
 Dates: 2002-01-14
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 27855
 Degree: -

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Title: Nature Genetics
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 30 (2) Sequence Number: - Start / End Page: 143 - 144 Identifier: -