title: Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
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) asymmetry. We previously localized to chromosome 5p a PCD locus containing DNAH5, which encodes a protein highly similar to the Chlamydomonas gamma-dynein heavy chain. 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.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Albert Ludwigs University, 79106 Freiburg, Germany.
authors.forename: Heike
authors.initials: H
authors.lastname: Olbrich
authors.forename: Karsten
authors.initials: K
authors.lastname: Häffner
authors.forename: Andreas
authors.initials: A
authors.lastname: Kispert
authors.forename: Alexander
authors.initials: A
authors.lastname: Völkel
authors.forename: Andreas
authors.initials: A
authors.lastname: Volz
authors.forename: Gürsel
authors.initials: G
authors.lastname: Sasmaz
authors.forename: Richard
authors.initials: R
authors.lastname: Reinhardt
authors.forename: Steffen
authors.initials: S
authors.lastname: Hennig
authors.forename: Hans
authors.initials: H
authors.lastname: Lehrach
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Konietzko
authors.forename: Maimoona
authors.initials: M
authors.lastname: Zariwala
authors.forename: Peadar G
authors.initials: PG
authors.lastname: Noone
authors.forename: Michael
authors.initials: M
authors.lastname: Knowles
authors.forename: Hannah M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: Maggie
authors.initials: M
authors.lastname: Meeks
authors.forename: Eddie M K
authors.initials: EM
authors.lastname: Chung
authors.forename: Friedhelm
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: Ralf
authors.initials: R
authors.lastname: Sudbrak
authors.forename: Heymut
authors.initials: H
authors.lastname: Omran
mesh_terms: D000818:Animals; D019521:Body Patterning / Q000235:genetics*; D002923:Cilia / Q000648:ultrastructure; D004398:Dyneins / Q000235:genetics*; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000235:genetics*; D008297:Male; D051379:Mice; D020409:Molecular Motor Proteins / Q000235:genetics; D009154:Mutation; D012857:Situs Inversus / Q000235:genetics
chemical_list: D020409:Molecular Motor Proteins; D004398:Dyneins