title: Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.
abstract: Primary ciliary dyskinesia (PCD) is a heterogeneous congenital disorder characterized by bronchiectasis and chronic sinusitis, sometimes associated with situs inversus (i.e., Kartagener's syndrome) and male infertility. At the cell level, the disease phenotype includes various axonemal abnormalities of respiratory cilia and sperm flagella. We have previously isolated DNAI1, the first gene involved in these diseases in patients lacking outer dynein arms. In this study, designed to find additional genes for other axonemal defects, we report the isolation of a novel human gene, hPF20, which is orthologous to Chlamydomonas pf20. The hPF20 gene is expressed as two major transcripts: one is expressed in testis only, whereas the second is weakly expressed in many other tissues. As flagella of Chlamydomonas strains carrying pf20 mutations lack the axonemal central complexes, we tested the involvement of the hPF20 gene in the disease phenotype of five patients in whom cilia or flagella display abnormal central complexes. Five intragenic polymorphisms were identified and used to exclude hPF20 in two consanguineous patients, while no mutation was found in the remaining patients. However, given the genetic heterogeneity of PCD, we consider that this gene remains a good candidate to be investigated in patients with abnormal central complexes.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale U468, and U492, Hôpital Henri Mondor, Créteil, France.
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Pennarun
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bridoux
authors.forename: Estelle
authors.initials: E
authors.lastname: Escudier
authors.forename: Florence
authors.initials: F
authors.lastname: Dastot-Le Moal
authors.forename: Valère
authors.initials: V
authors.lastname: Cacheux
authors.forename: Serge
authors.initials: S
authors.lastname: Amselem
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Duriez
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002696:Chlamydomonas / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D015894:Genome, Human; D006801:Humans; D007619:Kartagener Syndrome / Q000209:etiology / Q000235:genetics / Q000473:pathology; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D015800:Protozoan Proteins; D016415:Sequence Alignment; D013082:Sperm Tail / Q000473:pathology / Q000502:physiology
chemical_list: D008869:Microtubule-Associated Proteins; C107014:PF20 protein, Chlamydomonas; D015800:Protozoan Proteins; C450619:SPAG16 protein, human