Genomic analysis of murine phospholipase D1 and comparison to phospholipase D2 reveals an unusual difference in gene size

Abstract

Phospholipase D (PLD) catalyzes the hydrolysis of phosphatidylcholine to generate phosphatidic acid and choline. In mammals, PLD activity is encoded by two different genes, PLD1 and PLD2. cDNAs for human, mouse and rat PLD1 and PLD2 and the mouse PLD2 genomic organization have recently been reported. In this article, we describe the genomic organization of mouse PLD1. Mouse PLD1 (mPLD1) contains 28 exons and spans approximately 147 kb. This is much larger than the closely related mouse PLD2 (mPLD2) gene (17 kb) and indicates that a rapid 20-fold extension/contraction of the set of introns for one of the genes has occurred. This change is not apparently due to PLD1-specific repetitive element mediated expansion. Similar to mPLD2, most PLD1 exons are less than 200 bp in length. Only the final exon, containing in part the 3' UTR, is significantly longer (881 bp). Comparison of the mPLD1 and mPLD2 exon-intron boundaries revealed that almost all of the sites are conserved. The mPLD1 5' UTR is interrupted by two large introns, 16 and 30 kb in length. A PLD1-specific sequence known as the 'loop' region is encoded by two non-conserved exons. The boundary between the loop-encoding exons matches precisely the site at which an alternately spliced isoform had been proposed to be initiated.