CADM1 is expressed as multiple alternatively spliced functional and dysfunctional isoforms in human mast cells.

ABSTRACT: Cell adhesion molecule 1 (CADM1) is implicated in the pathogenesis of several diseases and is responsible for adhesion and survival of mast cells (MCs). Differential expression of CADM1 isoforms was found in different species. We previously cloned SP4, SP1, SP6 and a dysfunctional isoform from human lung MCs (HLMCs) and the MC line HMC-1. The aim of this study was to identify all isoforms expressed in human MCs. The functional isoforms SP4, SP1, SP6 and SP3, with alternative splicing between exons 7/11, were detected in human MCs by RT-PCR. Two dysfunctional isoforms with alternative splicing of cryptic exons A and B between exons 1/2, leading to premature termination of translation, were found in ∼40% of MC specimens. Sequencing of genomic DNA showed that splicing of cryptic exon B did no

SUBMITTER: Moiseeva EP 

PROVIDER: S-EPMC3550521 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature