A CANDIDATE MOUSE MODEL FOR PRADER-WILLI SYNDROME WHICH SHOWS AN ABSENCE OF SNRPN EXPRESSION

被引：166

作者：

CATTANACH, BM

BARR, JA

EVANS, EP

BURTENSHAW, M

BEECHEY, CV

LEFF, SE

BRANNAN, CI

COPELAND, NG

JENKINS, NA

JONES, J

机构：

[1] STANFORD UNIV,MED CTR,SCH MED,DEPT PHARMACOL,STANFORD,CA 94305

[2] NCI,FREDERICK CANC RES & DEV CTR,ABL BASIC RES PROGRAM,MAMMALIAN GENET LAB,FREDERICK,MD 21702

来源：

NATURE GENETICS | 1992年 / 2卷 / 04期

关键词：

D O I：

10.1038/ng1292-270

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：270 / 274

页数：5

共 38 条

[1] THE MOUSE INSULIN-LIKE GROWTH-FACTOR TYPE-2 RECEPTOR IS IMPRINTED AND CLOSELY LINKED TO THE TME LOCUS [J].