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

Olbrich, Heike; Häffner, Karsten; Kispert, Andreas; Völkel, Alexander; Volz, Andreas; Sasmaz, Gürsel; Reinhardt, Richard; Hennig, Steffen; Lehrach, Hans; Konietzko, Nikolaus; Zariwala, Maimoona; Noone, Peadar G.; Knowles, Michael; Mitchison, Hannah M.; Meeks, Maggie; Chung, Eddie M. K.; Hildebrandt, Friedhelm; Sudbrak, Ralf; Omran, Heymut

Local TagsRelease HistoryDetailsSummary

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.

Item is Released

show all hide all

Basic

show hide

Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8C72-B Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8C73-9

Genre: Journal Article

Files

show Files

Locators

show

Creators

show

hide

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

Content

show

hide

Free keywords: -

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.

Details

show

hide

Language(s): eng - English

Dates: Date issued: 2002-01-14

Publication Status: Issued

Pages: -

Publishing info: -

Table of Contents: -

Rev. Type: -

Identifiers: eDoc: 24560

Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show

hide

Title: Nature Genetics

Source Genre: Journal

Creator(s):

Affiliations:

Publ. Info: -

Pages: - Volume / Issue: 30 (2) Sequence Number: - Start / End Page: 143 - 144 Identifier: -