| First Author | Péterfy M | Year | 1998 |
| Journal | Genomics | Volume | 47 |
| Issue | 2 | Pages | 200-6 |
| PubMed ID | 9479492 | Mgi Jnum | J:45961 |
| Mgi Id | MGI:1196747 | Doi | 10.1006/geno.1997.5121 |
| Citation | Peterfy M, et al. (1998) Cloning and characterization of cDNAs and the gene encoding the mouse platelet-activating factor acetylhydrolase Ib alpha subunit/lissencephaly-1 protein. Genomics 47(2):200-6 |
| abstractText | Platelet-activating factor acetylhydrolases (PAF-AHs) play an important role in the metabolism of PAF, a potent phospholipid mediator affecting various physiological processes. The heterotrimeric form of intracellular PAF-AH consists of two catalytic subunits (PAF-AH Ib beta and PAF-AH Ib gamma) and a potential regulatory subunit (PAF-AH Ib alpha). Hemizygous deletion of the gene encoding the alpha subunit has been implicated in two related neurological disorders: isolated lissencephaly sequence and Miller-Dieker syndrome. Here we report the isolation and characterization of mouse Pafaha/Lis1 cDNAs and the corresponding Pafaha/Lis1 gene. We have cloned five cDNAs representing alternatively polyadenylated messages. Northern blot analysis revealed that the various Pafaha/Lis1 mRNAs are differentially expressed in mouse tissues. The Pafaha/Lis1 gene spans a genomic region of more than 50 kb and consists of 12 exons, the first 2 of which are embedded in CpG islands. We have identified two sites of alternative splicing of Pafaha/Lis1: one affecting the length of the 5' untranslated region, the other potentially resulting in a truncated form of the encoded protein. |
