G. Pennarun et al., The human dynein intermediate chain 2 gene (DNA12): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia, HUM GENET, 107(6), 2000, pp. 642-649
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characte
rized by chronic sinusitis and bronchiectasis, and usually associated with
hypofertility. Half of the patients present a situs inversus, defining the
Kartagener's syndrome. This phenotype results from axonemal abnormalities o
f respiratory cilia and sperm flagella, i.e., mainly an absence of dynein a
rms. Recently, a candidate-gene approach, based on documented abnormalities
of immotile strains of Chlamydomonas reinhardtii, allowed us to identify t
he first gene involved in PCD. Following the same strategy, we have charact
erized DNAI2, a human gene related to Chlamydomonas IC69, and evaluated its
possible involvement in a PCD population characterized by an absence of ou
ter dynein arms. DNAI2, which is composed of 14 exons located at 17q25, is
highly expressed in trachea and testis. No mutation was found in the DNAI2
coding sequence of the twelve patients investigated. However, ten intrageni
c polymorphic sites and an EcoRI RFLP have been identified, allowing the ex
clusion of DNAI2 in three consanguineous families.