title: The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.
abstract: Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized 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 of respiratory cilia and sperm flagella, i.e., mainly an absence of dynein arms. Recently, a candidate-gene approach, based on documented abnormalities of immotile strains of Chlamydomonas reinhardtii, allowed us to identify the first gene involved in PCD. Following the same strategy, we have characterized DNAI2, a human gene related to Chlamzydomonas IC69, and evaluated its possible involvement in a PCD population characterized by an absence of outer 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 intragenic polymorphic sites and an EcoRI RFLP have been identified, allowing the exclusion of DNAI2 in three consanguineous families.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale U468, H pital Henri Mondor, Créteil, France.
authors.forename: G
authors.initials: G
authors.lastname: Pennarun
authors.forename: C
authors.initials: C
authors.lastname: Chapelin
authors.forename: E
authors.initials: E
authors.lastname: Escudier
authors.forename: A M
authors.initials: AM
authors.lastname: Bridoux
authors.forename: F
authors.initials: F
authors.lastname: Dastot
authors.forename: V
authors.initials: V
authors.lastname: Cacheux
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: S
authors.initials: S
authors.lastname: Amselem
authors.forename: B
authors.initials: B
authors.lastname: Duriez
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D002648:Child; D002696:Chlamydomonas / Q000235:genetics; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000235:genetics*; D003001:Cloning, Molecular; D004398:Dyneins / Q000235:genetics*; D005091:Exons; D005260:Female; D015870:Gene Expression; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D017386:Sequence Homology, Amino Acid
chemical_list: D004398:Dyneins