MATERNAL IMPRINTING OF HUMAN SNRPN, A GENE DELETED IN PRADER-WILLI-SYNDROME

被引：147

作者：

REED, ML ^{[1
]}

LEFF, SE ^{[1
]}

机构：

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

来源：

NATURE GENETICS | 1994年 / 6卷 / 02期

关键词：

D O I：

10.1038/ng0294-163

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prader-Willi syndrome (PWS), a human neuroendocrine disorder, is associated with deficiencies of paternal chromosome 15q12. Small nuclear ribonucleoprotein polypeptide N (SNRPN) is the first expressed gene identified in the PWS critically deleted region. Following our demonstration that the murine homologue of SNRPN is imprinted, we have characterized a sequence polymorphism within expressed portions of human SNRPN and show that human SNRPN is monoallelically expressed in fetal brain and heart and in adult brain. Analysis of maternal DNA and SNRPN cDNA confirmed that the maternal allele of SNRPN is not expressed in fetal brain and heart. Maternal imprinting of SNRPN supports the hypothesis that paternal absence of SNRPN is responsible for the PWS phenotype.

引用

页码：163 / 167

页数：5

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