Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle

The loci of several genes responsible for arrhythmogenic right ventricular dysplasia (ARVD) have been mapped. Since ARVD involves the right ventricle, we sought candidate genes preferentially expressed in the right ventricle utilizing differential display polymerase chain reaction (PCR) on mRNA from the chambers of an adult human heart, PCR products were cloned, sequenced, and used to screen an adult heart cDNA library. A novel 1.3-kb cDNA (HG;MW -approved symbol C4orf5) with an open reading frame of 795 bp was identifie d. A probe designed from the 3' untranslated region of the 1.3-kb cDNA was hybridized to the 1.3-kb transcript and an alternatively spliced 2.5-kb tra nscript in the heart and skeletal muscle RNA lanes on a multitissue Norther n blot. Analysis of a 39-kb partial genomic sequence identified three intro nic splice sites in the 1.3-kb transcript. The gene was mapped to human chr omosome 4q26-q27. Computer-based analysis indicated that this gene is novel with no known function. (C) 2000 Academic Press.