Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene

We have previously reported that CDV (carnitine deficiency-associated gene expressed in ventricle)-1 was a downregulated gene in the hypertrophied ven tricle of carnitine-deficient juvenile visceral steatosis mice and that the related gene (CDV-1R) showed no tissue specificity and no sensitivity to c arnitine deficiency. In the present paper, the CDV-1/1R gene was isolated f rom a mouse genomic BAC library, and the genomic structure was characterize d. We found that the CDV-1/1R gene consisted of at least 19 exons and encom passed approximately 48 kb. The splice sites conformed to the GT-AG rule, a nd the CDV-1R mRNA containing 19 exons was processed. CDV-1 mRNA containing 5 exons was constructed from the 3' half of CDV-1R. The first exon of CDV- 1 consisted of the 3' side (116 bp) of intron 14 and exon 15 (87 bp) of CDV -1R. The presumed promoter sequence for CDV-1 located in the intron 14 of C DV-1R contained the common TATA box and consensus binding sites for various transcription factors (Nkx-2.5, Spl, C/EBP, SRF, YY1, and CREB), which see m to play roles in the heart-specific expression and carnitine deficiency-a ssociated suppression of CDV-1. In the upstream region of the CDV-1 promote r, we found two VNTRs, 13 repeats of GATA1, and 16 copies of STRE involved in yeast stress response. The CDV-1/1R gene was located close to D5MIT68 on mouse Chromosome (Chr) 5, corresponding to human Chr 12q24. All these data revealed that two mRNA species, CDV-1 and CDV-1R, are expressed tissue-spe cifically by using promoters peculiar to each transcript in a single gene.