Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
Prader-Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11-13 or with maternal disomy for chromosome 15. Therefore, loss of the expressed paternal alleles of maternally imprinted genes must be responsible for the PWS phenotype. We have mapped the gene encoding the small nuclear RNA associated polypeptide SmN (SNRPN) to human chromosome 15q12 and a processed pseudogene SNRPNP1 to chromosome region 6pter-p21. Furthermore, SNRPN was mapped to the minimal deletion interval that is critical for PWS. The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype.
Ozçelik
T
T
Howard Hughes Medical Institute, Stanford University School of Medicine, California 94305.
Leff
S
S
Robinson
W
W
Donlon
T
T
Lalande
M
M
Sanjines
E
E
Schinzel
A
A
Francke
U
U
D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D015870:Gene Expression; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011544:Pseudogenes; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D055517:snRNP Core Proteins
D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins; D004247:DNA