Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment

FEBS Letters

Escudier, Estelle¹  Goossens, Michel²  Chapelin, Catherine²  Duriez, Bénédicte²  Amselem, Serge¹  Magnino, Fabrice² 

[1] Service d'Histologie-Embryologie, Centre Hospitalier Universitaire Pitié-Salpétrière, 75651 Paris cedex 13, France;Laboratoire de Génétique Moléculaire et Physiopathologie, Institut National de la Santé et de la Recherche Médicale (INSERM) U.468, Hôpital Henri Mondor, 94010 Créteil, France

关键词: Dynein;    Cilium;    Phylogeny;    Primary ciliary dyskinesia;    Human genomic DNA;    DHC;    dynein heavy chain;   

DOI  :  10.1016/S0014-5793(97)00800-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Dynein heavy chains (DHCs) are the main components of multisubunit motor ATPase complexes called dyneins. Axonemal dyneins provide the driving force for ciliary and flagellar motility. Recent molecular studies demonstrated that multiple DHC isoforms are produced by separate genes. We describe the isolation of five human axonemal DHC genes. Analysis of the human genomic clones revealed the existence of intronic sequences that were used to demonstrate that human axonemal DHC genes are located on different chromosomes. The cloned human DHC sequences were integrated into an evolutionary approach based on phylogenetic analysis. Tissue expression studies showed that these human axonemal DHCs are expressed in testis and/or trachea, two tissues with axonemal structures that can be altered in primary ciliary dyskinesia, making DHC genes strong candidates in the genesis of these human diseases.

【 授权许可】

Unknown