Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.
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.
Reed
M L
ML
Department of Molecular Pharmacology, Stanford University School of Medicine, California 94305.
Leff
S E
SE
D000483:Alleles; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D001923:Brain Chemistry; D002461:Cell Line, Transformed; D004247:DNA / Q000032:analysis; D005260:Female; D005333:Fetus; D017353:Gene Deletion; D006801:Humans; D008969:Molecular Sequence Data; D009035:Mothers; D009206:Myocardium / Q000737:chemistry; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012313:RNA / Q000032:analysis; D017411:Ribonucleoproteins, Small Nuclear / Q000032:analysis / Q000235:genetics*; D055517:snRNP Core Proteins
D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins; D012313:RNA; D004247:DNA