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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2001-2-22
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pubmed:databankReference |
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pubmed:abstractText |
Balanced translocations affecting the paternal copy of 15q11--q13 are a rare cause of Prader-Willi syndrome (PWS) or PWS-like features. Here we report on the cytogenetic and molecular characterization of a de novo balanced reciprocal translocation t(X;15)(q28;q12) in a female patient with atypical PWS. The translocation breakpoints in this patient and two previously reported patients map 70-80 kb distal to the SNURF-SNRPN gene and define a breakpoint cluster region. The breakpoints disrupt one of several hitherto unknown 3' exons of this gene. Using RT--PCR we demonstrate that sequences distal to the breakpoint, including the recently identified C/D box small nucleolar RNA (snoRNA) gene cluster HBII-85 as well as IPW and PAR1, are not expressed in the patient. Our data suggest that lack of expression of these sequences contributes to the PWS phenotype.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Autoantigens,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Complementary,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Ribonucleoproteins, Small Nuclear,
http://linkedlifedata.com/resource/pubmed/chemical/SNRPN protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SNURF protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/snRNP Core Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0964-6906
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pubmed:author |
pubmed-author:BachFF,
pubmed-author:BuitingKK,
pubmed-author:GrossSS,
pubmed-author:HüttenhoferAA,
pubmed-author:HorsthemkeBB,
pubmed-author:KioschisPP,
pubmed-author:LichCC,
pubmed-author:MenzelCC,
pubmed-author:NothwangH GHG,
pubmed-author:RopersH HHH,
pubmed-author:SchinzelAA,
pubmed-author:TommerupNN,
pubmed-author:WirthJJ
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
201-10
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:11159938-Adult,
pubmed-meshheading:11159938-Alternative Splicing,
pubmed-meshheading:11159938-Autoantigens,
pubmed-meshheading:11159938-Base Sequence,
pubmed-meshheading:11159938-Chromosome Banding,
pubmed-meshheading:11159938-Chromosome Breakage,
pubmed-meshheading:11159938-Chromosomes, Human, Pair 15,
pubmed-meshheading:11159938-Cytogenetic Analysis,
pubmed-meshheading:11159938-DNA,
pubmed-meshheading:11159938-DNA, Complementary,
pubmed-meshheading:11159938-DNA Methylation,
pubmed-meshheading:11159938-Exons,
pubmed-meshheading:11159938-Female,
pubmed-meshheading:11159938-Gene Expression,
pubmed-meshheading:11159938-Humans,
pubmed-meshheading:11159938-In Situ Hybridization, Fluorescence,
pubmed-meshheading:11159938-Male,
pubmed-meshheading:11159938-Molecular Sequence Data,
pubmed-meshheading:11159938-Nuclear Proteins,
pubmed-meshheading:11159938-Prader-Willi Syndrome,
pubmed-meshheading:11159938-Proteins,
pubmed-meshheading:11159938-Ribonucleoproteins, Small Nuclear,
pubmed-meshheading:11159938-Sequence Analysis, DNA,
pubmed-meshheading:11159938-Transcription, Genetic,
pubmed-meshheading:11159938-Translocation, Genetic,
pubmed-meshheading:11159938-X Chromosome,
pubmed-meshheading:11159938-snRNP Core Proteins
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pubmed:year |
2001
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pubmed:articleTitle |
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
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pubmed:affiliation |
Max-Planck Institut für Molekulare Genetik.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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