Sun, YongmingNicholls, Robert D.Butler, Merlin G.Saitoh, ShinjiHainline, Bryan E.Palmer, Catherine G.2019-05-312019-05-311996-04Sun, Y., Nicholls, R. D., Butler, M. G., Saitoh, S., Hainline, B. E., & Palmer, C. G. (1996). Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Human molecular genetics, 5(4), 517–524. doi:10.1093/hmg/5.4.517https://hdl.handle.net/1805/19506A patient with Prader-Willi syndrome (PWS) was found to carry a de novo balanced reciprocal translocation, t(15;19)(q12;q13.41), which disrupted the small nuclear ribonucleoprotein N (SNRPN) locus. The translocation chromosome 15 was found to be paternal in origin. Uniparental disomy and abnormal DNA methylation were ruled out. The translocation breakpoint was found to have occurred between exon 0 (second exon) and 1 (third exon) of the SNRPN locus outside of the SmN open reading frame (ORF), which is intact. The transcriptional activities of ZNF127, IPW, PAR-1, and PAR-5 were detected with RT-PCR from fibroblasts of the patient, suggesting that these genes may not play a significant role in the PWS phenotype in this patient. Transcription from the first two exons and last seven exons of the SNRPN gene was also detected with RT-PCR; however, the complete mRNA (10 exons) was not detected. Thus, the PWS phenotype in the patient is likely to be the result of disruption of the SNRPN locus.en-USPublisher PolicyAutoantigensBase SequenceBlotting, SouthernChild, PreschoolChromosomes, Human, Pair 15Chromosomes, Human, Pair 19DNA DamageDNA PrimersIn Situ Hybridization, FluorescenceMethylationMolecular Sequence DataPedigreePrader-Willi SyndromeRNARibonucleoproteins, Small NuclearTranslocation, GeneticsnRNP Core ProteinsArticle