Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.

Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL
Nat Genet. 1994 8 (1): 52-8

PMID: 7987392 · DOI:10.1038/ng0994-52

To determine the molecular basis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS), we have isolated new transcripts from chromosome 15q11-q13. Two novel transcripts located within 300 kilobases telomeric to the small nuclear ribonucleoprotein-associated polypeptide N gene (SNRPN) were paternally expressed in cultured cells, along with SNRPN, defining a large imprinted transcriptional domain. In three PWS patients (two sibs), small deletions remove a differentially methylated CpG island containing a newly described 5' exon alpha of SNRPN, and cause loss of expression for the three imprinted transcripts and altered methylation over hundreds of kilobases. The smallest PWS deletion is familial and asymptomatic with maternal transmission. Our data imply the presence of a paternal imprinting control region near exon alpha.

MeSH Terms (13)

Angelman Syndrome Autoantigens Base Sequence Chromosomes, Human, Pair 15 Dinucleoside Phosphates Fathers Genomic Imprinting Humans Molecular Sequence Data Prader-Willi Syndrome Ribonucleoproteins, Small Nuclear Sequence Deletion snRNP Core Proteins

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