Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes

Sliding between adjacent microtubules within the axonema gives rise to the motility of cilia and flagella. The driving force is produced by dynein com plexes which are mainly composed of the axonemal dynein heavy chains. We us ed cells of human respiratory epithelium after in vitro ciliogenesis to clo ne cDNA fragments of nine dynein heavy chain genes, one of which had never been identified before. Dynein heavy chains are highly conserved from proto zoa to human and the evolutionary ancestry of these dynein heavy chain cDNA fragments was deduced by phylogenetic analysis. These dynein heavy chain c DNAs are highly transcribed in human tissues containing axonema such as tra chea, testis and brain, but not in adult heart or placenta. PAC clones cont aining dynein heavy chains were obtained and used to determine by FISH thei r chromosomal position in the human genome. They were mapped to 2p12-p11, 2 q33, 3p21.2-p21.1, 13q14, 16p12 and 17p12. The chromosomal assignment of th ese dynein heavy chain genes which was confirmed by GeneBridge 4 radiation hybrid screening, will be extremely useful for linkage analysis efforts in patients with primary ciliary dyskinesia (PCD).