Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
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.
Olbrich
Heike
H
Department of Pediatrics and Adolescent Medicine, Albert Ludwigs University, 79106 Freiburg, Germany.
Häffner
Karsten
K
Kispert
Andreas
A
Völkel
Alexander
A
Volz
Andreas
A
Sasmaz
Gürsel
G
Reinhardt
Richard
R
Hennig
Steffen
S
Lehrach
Hans
H
Konietzko
Nikolaus
N
Zariwala
Maimoona
M
Noone
Peadar G
PG
Knowles
Michael
M
Mitchison
Hannah M
HM
Meeks
Maggie
M
Chung
Eddie M K
EM
Hildebrandt
Friedhelm
F
Sudbrak
Ralf
R
Omran
Heymut
H
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
D020409:Molecular Motor Proteins; D004398:Dyneins