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A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15


Wirth, Jutta; Back, Elke; Hüttenhofer, Alexander; Nothwang, Hans-Gerd; Lich, Christina; Gross, Stephanie; Menzel, Corinna; Schinzel, Albert; Kioschis, Petra; Tommerup, Niels; Ropers, Hans-Hilger; Horsthemke, Bernhard; Buiting, Karin (2001). A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Human Molecular Genetics, 10(3):201-210.

Abstract

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.

Abstract

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Molecular Biology
Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Molecular Biology, General Medicine, phenotype, chromosomes, human, pair 15, clone cells, cytogenetics, exons, genes, reverse transcriptase polymerase chain reaction, small nucleolar rna, translocation (genetics), reciprocal translocation, receptor, par-1, bcr gene
Language:English
Date:1 February 2001
Deposited On:28 Jun 2023 07:00
Last Modified:29 Apr 2024 01:38
Publisher:Oxford University Press
ISSN:0964-6906
OA Status:Closed
Publisher DOI:https://doi.org/10.1093/hmg/10.3.201
PubMed ID:11159938