Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

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dc.contributor.authorSun, Yongming
dc.contributor.authorNicholls, Robert D.
dc.contributor.authorButler, Merlin G.
dc.contributor.authorSaitoh, Shinji
dc.contributor.authorHainline, Bryan E.
dc.contributor.authorPalmer, Catherine G.
dc.contributor.departmentMedical and Molecular Genetics, School of Medicineen_US
dc.date.accessioned2019-05-31T13:27:27Z
dc.date.available2019-05-31T13:27:27Z
dc.date.issued1996-04
dc.description.abstractA 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_US
dc.eprint.versionAuthor's manuscripten_US
dc.identifier.citationSun, 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/5.4.517en_US
dc.identifier.urihttps://hdl.handle.net/1805/19506
dc.language.isoen_USen_US
dc.publisherOxford Academicen_US
dc.relation.isversionof10.1093/hmg/5.4.517en_US
dc.relation.journalHuman Molecular Geneticsen_US
dc.rightsPublisher Policyen_US
dc.sourcePMCen_US
dc.subjectAutoantigensen_US
dc.subjectBase Sequenceen_US
dc.subjectBlotting, Southernen_US
dc.subjectChild, Preschoolen_US
dc.subjectChromosomes, Human, Pair 15en_US
dc.subjectChromosomes, Human, Pair 19en_US
dc.subjectDNA Damageen_US
dc.subjectDNA Primersen_US
dc.subjectIn Situ Hybridization, Fluorescenceen_US
dc.subjectMethylationen_US
dc.subjectMolecular Sequence Dataen_US
dc.subjectPedigreeen_US
dc.subjectPrader-Willi Syndromeen_US
dc.subjectRNAen_US
dc.subjectRibonucleoproteins, Small Nuclearen_US
dc.subjectTranslocation, Geneticen_US
dc.subjectsnRNP Core Proteinsen_US
dc.titleBreakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patienten_US
dc.typeArticleen_US
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