Human skeletal muscle triadin: gene organization and cloning of the major isoform, Trisk 51.

We obtained the gene organization of human triadin gene by aligning the DNA coding sequence of human 95-kDa triadin (Trisk 95) with human genomic database. We identified a novel human triadin isoform, a potential human homologue of rat Trisk 51. We show that both isoforms of triadin, Trisk 51 and Trisk 95, are alternative splice variants of the same gene. We demonstrated experimentally the existence of this Trisk 51 transcript in human skeletal muscle and cloned its full length cDNA. We further demonstrated that the protein encoded by this transcript is expressed in the human skeletal muscle. In addition, unlike other species, Trisk 51 is the major triadin isoform expressed in human skeletal muscle, whereas Trisk 95 is below the detection level in the two types of muscles tested.