Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
Nat Genet
; 30(2): 143-4, 2002 Feb.
Article
en En
| MEDLINE
| ID: mdl-11788826
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Kartagener
/
Dineínas
/
Tipificación del Cuerpo
/
Mutación
Tipo de estudio:
Clinical_trials
Límite:
Animals
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2002
Tipo del documento:
Article
País de afiliación:
Alemania