Alternative titles; symbols
HGNC Approved Gene Symbol: PWAR5
Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:24,984,860-24,988,232 (from NCBI)
To determine the molecular basis of Prader-Willi syndrome (PWS; 176270) and Angelman syndrome (AS; 105830), Sutcliffe et al. (1994) isolated novel transcripts from chromosome 15q11-q13. They found that 2 novel transcripts, PAR1 (600161) and PAR5, were paternally expressed in cultured cells, along with SNRPN (182279), thereby defining a large imprinted transcriptional domain.
By analysis of a YAC contig, Sutcliffe et al. (1994) mapped the PAR5 gene within 300 kb telomeric to the SNRPN gene on chromosome 15q11-q13.
Sutcliffe et al. (1994) found that in 2 sibs with PWS and a third sporadic case, small deletions removed a differentially methylated CpG island containing a newly described 5-prime exon, designated alpha, of SNRPN, and caused loss of expression of the imprinted PAR1, PAR5, and SNRPN transcripts and altered methylation over hundreds of kilobases. (Sequences previously designated as exon 1 of SNRPN had been found, in fact, to lie approximately 12 kb telomeric of exon alpha, the true first exon of the gene.) The smallest PWS deletion was familial and was asymptomatic when transmitted through the mother. Sutcliffe et al. (1994) interpreted their data as indicating the presence of a paternal imprinting control region near exon alpha.
Sutcliffe, J. S., Nakao, M., Christian, S., Orstavik, K. H., Tommerup, N., Ledbetter, D. H., Beaudet, A. L. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet. 8: 52-58, 1994. [PubMed: 7987392] [Full Text: https://doi.org/10.1038/ng0994-52]