| First Author | Leff SE | Year | 1992 |
| Journal | Nat Genet | Volume | 2 |
| Issue | 4 | Pages | 259-64 |
| PubMed ID | 1303276 | Mgi Jnum | J:3623 |
| Mgi Id | MGI:52134 | Doi | 10.1038/ng1292-259 |
| Citation | Leff SE, et al. (1992) Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet 2(4):259-64 |
| abstractText | Prader-Willi syndrome (PWS) is associated with paternal gene deficiencies in human chromosome 15q11-13, suggesting that PWS is caused by a deficiency in one or more maternally imprinted genes. We have now mapped a gene, Snrpn, encoding a brain-enriched small nuclear ribonucleoprotein (snRNP)-associated polypeptide SmN, to mouse chromosome 7 in a region of homology with human chromosome 15q11-13 and demonstrated that Snrpn is a maternally imprinted gene in mouse. These studies, in combination with the accompanying human mapping studies showing that SNRPN maps in the Prader-Willi critical region, identify SNRPN as a candidate gene involved in PWS and suggest that PWS may be caused, in part, by defects in mRNA processing. |
