title: Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
abstract: Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100-kb region including exon 1 of SNRPN. From this region we have identified novel transcripts, which represent alternative transcripts of the SNRPN gene. The novel exons lack protein coding potential and are expressed from the paternal chromosome only. We have also identified intragenic deletions and a point mutation in patients who have Angelman or Prader-Willi syndrome due to a parental imprint switch failure. This suggests that imprint switching on human chromosome 15 may involve alternative SNRPN transcripts.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Dittrich
authors.forename: K
authors.initials: K
authors.lastname: Buiting
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: S
authors.initials: S
authors.lastname: Rickard
authors.forename: J
authors.initials: J
authors.lastname: Buxton
authors.forename: S
authors.initials: S
authors.lastname: Saitoh
authors.forename: R D
authors.initials: RD
authors.lastname: Nicholls
authors.forename: A
authors.initials: A
authors.lastname: Poustka
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D017204:Angelman Syndrome / Q000235:genetics; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019175:DNA Methylation; D005091:Exons / Q000235:genetics; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005796:Genes / Q000235:genetics; D005812:Genes, Switch / Q000235:genetics; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009928:Organ Specificity; D017354:Point Mutation / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D012333:RNA, Messenger; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins