Article
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
Nature genetics - 1 Dec 1992
Ozçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U
Abstract excerpt
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...
Topics
- Autoantigens
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA
- Female
- Gene Deletion
- Gene Expression
- Humans
- Male
- Molecular Sequence Data