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| SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE-N (SNRPN), AN EXPRESSED GENE IN THE PRADER-WILLI SYNDROME CRITICAL REGION |
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| Author(s): OZCELIK T, LEFF S, ROBINSON W, DONLON T, LALANDE M, SANJINES E, SCHINZEL A, FRANCKE U |
| Source: NATURE GENETICS Volume: 2 Issue: 4 Pages: 265-269 Published: DEC 1992 |
| Times Cited: 207 References: 33 |
| Abstract: Prader-Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11-13 or with maternal disomy for chromosome 15. Therefore, loss of the expressed paternal alleles of maternally imprinted genes must be responsible for the PWS phenotype. We have mapped the gene encoding the small nuclear RNA associated polypeptide SmN (SNRPN) to human chromosome 15q12 and a processed pseudogene SNRPNP1 to chromosome region 6pter-p21. Furthermore, SNRPN was mapped to the minimal deletion interval that is critical for PWS. The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype. |
| Document Type: Article |
| Language: English |
Addresses:
1. STANFORD UNIV, MED CTR, SCH MED, DEPT PHARMACOL, STANFORD, CA 94305 USA
2. STANFORD UNIV, MED CTR, SCH MED, DEPT PATHOL, STANFORD, CA 94305 USA
3. STANFORD UNIV, MED CTR, SCH MED, DEPT GENET & PEDIAT, STANFORD, CA 94305 USA
4. UNIV ZURICH, INST MED GENET, CH-8001 ZURICH, SWITZERLAND
5. CHILDRENS HOSP MED CTR, DIV GENET, BOSTON, MA 02115 USA
6. HOWARD HUGHES MED INST, BOSTON, MA 02115 USA
7. STANFORD UNIV, MED CTR, SCH MED, HOWARD HUGHES MED INST, 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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