HGNC Approved Gene Symbol: PWRN1
Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:24,558,157-24,587,780 (from NCBI)
By searching for genes in the Prader-Willi syndrome (PWS; 176270) region on chromosome 15, followed by database analysis and RT-PCR of testis and fetal brain, Buiting et al. (2007) obtained several PWRN1 transcripts. The transcripts differed due to alternative splicing and polyadenylation, and all appeared to be noncoding. RT-PCR detected high PWRN1 expression in testis and much lower expression in prostate, heart, kidney, liver, lung, skeletal muscle, trachea, spinal cord, and fetal brain.
By database analysis, Wawrzik et al. (2009) identified several novel transcripts from the SNURF-SNRPN region (see 182279), 1 of which included exon 23 from the upstream PWRN1 gene. Exon connection PCR analysis of fetal brain and testis detected 4 novel PWRN1 transcripts, including 2 that showed splicing between a 3-prime PWRN1 exon and SNURF-SNRPN exons. Wawrzik et al. (2009) suggested that PWNR1 is not an independent gene, but an alternative 5-prime part of SNURF-SNRPN.
Using RT-PCR and SNP analysis, Buiting et al. (2007) found biallelic expression of PWRN1 in testis and kidney and monoallelic expression of 3 different PWRN1 isoforms in fetal brain. A CpG island associated with PWRN1 exon 1 was unmethylated in spermatozoa and blood, but equal proportions of methylated and unmethylated sequences were present in fetal brain.
Buiting et al. (2007) determined that the PWRN1 gene contains 26 exons and spans 160 kb. A CpG island is located 15 kb upstream of the first exon.
By genomic sequence analysis, Buiting et al. (2007) mapped the PWRN1 gene to chromosome 15q11-q13. In addition to the expressed gene, this region contains 5 partial duplications of PWRN1 and several copies of single PWRN1 exons.
Buiting, K., Nazlican, H., Galetzka, D., Wawrzik, M., Gross, S., Horsthemke, B. C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics 89: 588-595, 2007. [PubMed: 17337158] [Full Text: https://doi.org/10.1016/j.ygeno.2006.12.008]
Wawrzik, M., Spiess, A.-N., Herrmann, R., Buiting, K., Horsthemke, B. Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Europ. J. Hum. Genet. 17: 1463-1470, 2009. [PubMed: 19471314] [Full Text: https://doi.org/10.1038/ejhg.2009.83]