Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
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.
Buiting
K
K
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Dittrich
B
B
Gross
S
S
Greger
V
V
Lalande
M
M
Robinson
W
W
Mutirangura
A
A
Ledbetter
D
D
Horsthemke
B
B
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
D001324:Autoantigens; D017931:DNA Primers; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins