Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.

Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL
Genome Res. 1997 7 (6): 642-8

PMID: 9199937 · PMCID: PMC310659 · DOI:10.1101/gr.7.6.642

The gene encoding the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) maps to the Prader-Willi syndrome critical region on chromosome 15 and is expressed preferentially from the paternal allele. A CpG island encompassing the first exon of SNRPN is methylated on the inactive maternal allele. DNA sequence was determined for a cosmid containing the first three exons of SNRPN and extending 20 kb upstream and 15 kb downstream from the CpG island. This region is extremely rich in Alu elements and other repetitive sequences and contains a single CpG island, which includes numerous short direct repeat sequences. Functional analysis of the first exon revealed strong promoter activity for a 260-bp fragment extending 207 bp upstream from the exon. In vitro methylation of this 260-bp fragment abolished promoter activity completely, suggesting that the silencing of the maternal SNRPN allele may be a direct consequence of methylation of the promoter region.

MeSH Terms (22)

Alleles Autoantigens Cells, Cultured Chromosomes, Human, Pair 15 Cloning, Molecular CpG Islands DNA-Cytosine Methylases DNA Methylation Exons Gene Expression HeLa Cells Humans Methylation Molecular Sequence Data Polymerase Chain Reaction Prader-Willi Syndrome Promoter Regions, Genetic Repetitive Sequences, Nucleic Acid Ribonucleoproteins, Small Nuclear Sequence Analysis, DNA snRNP Core Proteins Transfection

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