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Gene Review:

PWAR5 - Prader Willi/Angelman region RNA 5

Homo sapiens

Synonyms: D15S226E, PAR-5, PAR5

Ning, Y. et al., Butler, M.G. et al., Rogan, P.K. et al., Suzuki, A. et al.

Rogan, Seip, White, Wenger, Steele, Sperling, Menon, Knoll,

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Disease relevance of PAR5

Small nuclear ribonucleoprotein-associated polypeptide N (snRPN) and an anonymous transcript, PAR-5, are two of the paternally expressed transcripts mapped to the Prader-Willi syndrome critical region [1].

High impact information on PAR5

Using long-range PCR, we have isolated the genomic interval between snRPN and PAR-5, identified a novel transcript in this region, and termed it PAR-SN [1].
On the other hand, aPKC phosphorylates threonine 595 of PAR-1b and enhances its binding with 14-3-3/PAR-5 [2].
By contrast, cells from the first individual expressed PAR5 and ZNF127, whereas the second expressed a single IPW allele [3].
High resolution chromosome analysis was normal but fluorescence in situ hybridization (FISH), Southern hybridization, and microsatellite data from the 15q11q13 region demonstrated that the deletion was paternal in origin and included the SNRPN, PAR-5, and PAR-7 genes from the proximal to distal boundaries of the deletion segment [4].

References

Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region. Ning, Y., Roschke, A., Christian, S.L., Lesser, J., Sutcliffe, J.S., Ledbetter, D.H. Genome Res. (1996) [Pubmed]
aPKC acts upstream of PAR-1b in both the establishment and maintenance of mammalian epithelial polarity. Suzuki, A., Hirata, M., Kamimura, K., Maniwa, R., Yamanaka, T., Mizuno, K., Kishikawa, M., Hirose, H., Amano, Y., Izumi, N., Miwa, Y., Ohno, S. Curr. Biol. (2004) [Pubmed]
Relaxation of imprinting in Prader-Willi syndrome. Rogan, P.K., Seip, J.R., White, L.M., Wenger, S.L., Steele, M.W., Sperling, M.A., Menon, R., Knoll, J.H. Hum. Genet. (1998) [Pubmed]
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. Butler, M.G., Christian, S.L., Kubota, T., Ledbetter, D.H. Am. J. Med. Genet. (1996) [Pubmed]

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