Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease.

ABSTRACT: Recent findings illustrate a critical role for ankyrin-B function in normal cardiovascular physiology. Specifically, decreased expression of ankyrin-B in mice or human mutations in the ankyrin-B gene (ANK2) results in potentially fatal cardiac arrhythmias. Despite the clear role of ankyrin-B in heart, the mechanisms underlying transcriptional regulation of ANK2 are unknown. In fact, to date there is no description of ANK2 genomic organization. The aims of this study were to provide a comprehensive description of the ANK2 gene and to evaluate the relative expression of alternative splicing events associated with ANK2 transcription in heart. Using reverse-transcriptase PCR on mRNA isolated from human hearts, we identify seven new exons associated with the ANK2 gene including an alternative f

SUBMITTER: Cunha SR 

PROVIDER: S-EPMC2630508 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature