| | |  | | | | Record from Web of Science® | | | | | | |
| A CANDIDATE MOUSE MODEL FOR PRADER-WILLI SYNDROME WHICH SHOWS AN ABSENCE OF SNRPN EXPRESSION |
|
|
| Author(s): CATTANACH BM, BARR JA, EVANS EP, BURTENSHAW M, BEECHEY CV, LEFF SE, BRANNAN CI, COPELAND NG, JENKINS NA, JONES J |
| Source: NATURE GENETICS Volume: 2 Issue: 4 Pages: 270-274 Published: DEC 1992 |
| Times Cited: 137 References: 38 |
| Abstract: The best examples of imprinting in humans are provided by the Angelman and Prader-Willi syndromes (AS and PWS) which are associated with maternal and paternal 15q11-13 deletions, respectively, and also with paternal and maternal disomy 15. The region of the deletions has homology with a central part of mouse chromosome 7, incompletely tested for imprinting effects. Here, we report that maternal duplication for this region causes a murine imprinting effect which may correspond to PWS. Paternal duplication was not associated with any detectable effect that might correspond with AS. Gene expression studies established that Snrpn is not expressed in mice with the maternal duplication and suggest that the closely-linked Gabrb-3 locus is not subject to imprinting. Flnally, an additional new imprinting effect is described. |
| Document Type: Article |
| Language: English |
| Reprint Address: CATTANACH, BM (reprint author), MRC, RADIOBIOL UNIT, DIV GENET, DIDCOT OX11 0RD, OXON ENGLAND |
Addresses:
1. STANFORD UNIV, MED CTR, SCH MED, DEPT PHARMACOL, STANFORD, CA 94305 USA
2. NCI, FREDERICK CANC RES & DEV CTR, ABL BASIC RES PROGRAM, MAMMALIAN GENET LAB, FREDERICK, MD 21702 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: KB495 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |