Am. J. Respir. Cell Mol. Biol., Volume 26, Number 3, March, 2002 362-370

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

Gaëlle Pennarun, Anne-Marie Bridoux, Estelle Escudier, Florence Dastot-Le Moal, Valère Cacheux, Serge Amselem, and Bénédicte Duriez

Institut National de la Santé et de la Recherche Médicale U468, and U492, Hôpital Henri Mondor, Créteil; and Unité Fonctionnelle de Biologie de la Reproduction, Département de Génétique, Cytogénétique et Embryologie, Groupe Hospitalier Pitié-Salpêtrière (AP-HP), Paris, France

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.

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