人类SNRPN基因的母系印记，该基因在普拉德-威利综合征中缺失。

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.

作者信息

Reed M L, Leff S E

机构信息

Department of Molecular Pharmacology, Stanford University School of Medicine, California 94305.

出版信息

Nat Genet. 1994 Feb;6(2):163-7. doi: 10.1038/ng0294-163.

DOI:10.1038/ng0294-163

PMID:7512861

Abstract

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.

摘要

普拉德-威利综合征（PWS）是一种人类神经内分泌疾病，与父源15号染色体q12区域的缺失有关。小核核糖核蛋白多肽N（SNRPN）是在PWS关键缺失区域中鉴定出的首个表达基因。在我们证明SNRPN的小鼠同源物是印记基因之后，我们对人类SNRPN表达部分的序列多态性进行了表征，并表明人类SNRPN在胎儿脑和心脏以及成体脑中是单等位基因表达的。对母源DNA和SNRPN cDNA的分析证实，SNRPN的母源等位基因在胎儿脑和心脏中不表达。SNRPN的母源印记支持了这样一种假说，即父源SNRPN缺失是导致PWS表型的原因。