title: Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
abstract: The Prader-Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader-Willi syndrome comprises 320 kb. The region includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Buiting
authors.forename: B
authors.initials: B
authors.lastname: Dittrich
authors.forename: S
authors.initials: S
authors.lastname: Gross
authors.forename: V
authors.initials: V
authors.lastname: Greger
authors.forename: M
authors.initials: M
authors.lastname: Lalande
authors.forename: W
authors.initials: W
authors.lastname: Robinson
authors.forename: A
authors.initials: A
authors.lastname: Mutirangura
authors.forename: D
authors.initials: D
authors.lastname: Ledbetter
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D017931:DNA Primers; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000235:genetics*; D015183:Restriction Mapping; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D017384:Sequence Deletion; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017931:DNA Primers; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins