| First Author | Bressler J | Year | 2001 |
| Journal | Nat Genet | Volume | 28 |
| Issue | 3 | Pages | 232-40 |
| PubMed ID | 11431693 | Mgi Jnum | J:70275 |
| Mgi Id | MGI:2136708 | Doi | 10.1038/90067 |
| Citation | Bressler J, et al. (2001) The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat Genet 28(3):232-40 |
| abstractText | In mice and humans, the locus encoding the gene for small nuclear ribonucleoprotein N (SNRPN/Snrpn), as well as other loci in the region are subject to genomic imprinting. The SNRPN promoter is embedded in a maternally methylated CpG island, is expressed only from the paternal chromosome and lies within an imprinting center that is required for switching to and/or maintenance of the paternal epigenotype. We show here that a 0.9-kb deletion of exon 1 of mouse Snrpn did not disrupt imprinting or elicit any obvious phenotype, although it did allow the detection of previously unknown upstream exons. In contrast, a larger, overlapping 4.8-kb deletion caused a partial or mosaic imprinting defect and perinatal lethality when paternally inherited. |
