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| MATERNAL IMPRINTING OF THE MOUSE SNRPN GENE AND CONSERVED LINKAGE HOMOLOGY WITH THE HUMAN PRADER-WILLI SYNDROME REGION |
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| Author(s): LEFF SE, BRANNAN CI, REED ML, OZCELIK T, FRANCKE U, COPELAND NG, JENKINS NA |
| Source: NATURE GENETICS Volume: 2 Issue: 4 Pages: 259-264 Published: DEC 1992 |
| Times Cited: 225 References: 52 |
| Abstract: Prader-Willi syndrome (PWS) is associated with paternal gene deficiencies in human chromosome 1511-13, 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 1511-13 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: LEFF, SE (reprint author), STANFORD UNIV, MED CTR, SCH MED, DEPT PHARMACOL, STANFORD, CA 94305 USA |
Addresses:
1. NCI, FREDERICK CANC RES & DEV CTR, ABL BASIC RES PROGRAM, MAMMALIAN GENET LAB, FREDERICK, MD 21702 USA
2. STANFORD UNIV, MED CTR, SCH MED, HOWARD HUGHES MED INST, STANFORD, CA 94305 USA
3. STANFORD UNIV, MED CTR, SCH MED, DEPT GENET & PEDIAT, STANFORD, CA 94305 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: KB495 |
| ISSN: 1061-4036 |
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