MPI für molekulare Genetik / Department of Vertebrate Genomics |
|Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry|
|Authors:||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|
|Date of Publication (YYYY-MM-DD):||2002-01-14|
|Title of Journal:||Nature Genetics|
|Issue / Number:||2|
|Review Status:||not specified|
|Abstract / Description:||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.|
|External Publication Status:||published|
|Communicated by:||Hans Lehrach|
|Affiliations:||MPI für molekulare Genetik|
|External Affiliations:||Department of Pediatrics and Adolescent Medicine, Albert Ludwigs University, 79106 Freiburg, Germany.
Medizinische Hochschule Hannover, Germany.
Ruhrland-Klinik, Essen, Germany.
University of North Carolina at Chapel Hill, North Carolina, USA.
Department of Paediatrics and Child Health, Royal Free and University College London, UK.
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