|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1996-10-24
|
|
pubmed:abstractText |
A 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.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
0964-6906
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
5
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
517-24
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:8845846-Autoantigens,
pubmed-meshheading:8845846-Base Sequence,
pubmed-meshheading:8845846-Blotting, Southern,
pubmed-meshheading:8845846-Child, Preschool,
pubmed-meshheading:8845846-Chromosomes, Human, Pair 15,
pubmed-meshheading:8845846-Chromosomes, Human, Pair 19,
pubmed-meshheading:8845846-DNA,
pubmed-meshheading:8845846-DNA Damage,
pubmed-meshheading:8845846-DNA Primers,
pubmed-meshheading:8845846-Female,
pubmed-meshheading:8845846-Humans,
pubmed-meshheading:8845846-In Situ Hybridization, Fluorescence,
pubmed-meshheading:8845846-Male,
pubmed-meshheading:8845846-Methylation,
pubmed-meshheading:8845846-Molecular Sequence Data,
pubmed-meshheading:8845846-Pedigree,
pubmed-meshheading:8845846-Prader-Willi Syndrome,
pubmed-meshheading:8845846-RNA,
pubmed-meshheading:8845846-Ribonucleoproteins, Small Nuclear,
pubmed-meshheading:8845846-Translocation, Genetic,
pubmed-meshheading:8845846-snRNP Core Proteins
|
|
pubmed:year |
1996
|
|
pubmed:articleTitle |
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.
|
|
pubmed:affiliation |
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis 46202-5251, USA.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|
