Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
作者： Heike Olbrich , Karsten Häffner , Andreas Kispert , Alexander Völkel , Andreas Volz
DOI: 10.1038/NG817
关键词: Biology 、 Internal medicine 、 Ciliary Motility Disorders 、 Inner dynein arm 、 Genetics 、 Endocrinology 、 Mucociliary clearance 、 Primary ciliary dyskinesia 、 Cilium 、 Situs inversus 、 Outer dynein arm 、 Motile cilium
摘要: Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and sperm immobility. Half affected offspring have situs inversus (reversed organs), which results from randomization left-right (LR) asymmetry. We previously localized chromosome 5p a PCD locus containing DNAH5, encodes protein highly similar Chlamydomonas gamma-dynein heavy chain. Here we characterize full-length 14-kb transcript DNAH5. Sequence analysis in individuals with LR asymmetry identified mutations resulting non-functional DNAH5 proteins.
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