Sporadic childhood tumors associated with Beckwith-Wiedemann syndrome (BWS) all show abnormalities of the same region on chromosome 11. In addition to chromosome 11, other chromosome regions are affected in some of these tumor types. In this study we analyzed the region on chromosome 1p involved in the etiology of BWS-associated tumors, Wilms tumor, rhabdomyosarcoma, and hepatoblastoma. For this purpose we determined the location of two novel translocation breakpoints in this chromosome region in cells from a Wilms tumor and cells from a rhabdomyosarcoma. We constructed a map of the region and found that both breakpoints are separated by at least 875 kb. We identified a PAC clone which crosses the rhabdomyosarcoma breakpoint and found several exons within this clone. We established that this breakpoint is located proximal to the PAX7 gene and, therefore, identified a new region involved in the etiology of rhabdomyosarcomas.

Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumors / M.J. Steenman, N. Zijlstra, D.L. Kruitbosch, C. Wiesmeijer, L. Larizza, P.A. Voûte, A. Westerveld, M.M. Mannens. - In: CYTOGENETICS AND CELL GENETICS. - ISSN 0301-0171. - 88:3-4(2000), pp. 289-295.

Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumors

L. Larizza;
2000

Abstract

Sporadic childhood tumors associated with Beckwith-Wiedemann syndrome (BWS) all show abnormalities of the same region on chromosome 11. In addition to chromosome 11, other chromosome regions are affected in some of these tumor types. In this study we analyzed the region on chromosome 1p involved in the etiology of BWS-associated tumors, Wilms tumor, rhabdomyosarcoma, and hepatoblastoma. For this purpose we determined the location of two novel translocation breakpoints in this chromosome region in cells from a Wilms tumor and cells from a rhabdomyosarcoma. We constructed a map of the region and found that both breakpoints are separated by at least 875 kb. We identified a PAC clone which crosses the rhabdomyosarcoma breakpoint and found several exons within this clone. We established that this breakpoint is located proximal to the PAX7 gene and, therefore, identified a new region involved in the etiology of rhabdomyosarcomas.
genetic linkage ; chromosome walking ; contig mapping ; humans ; in situ hybridization, fluorescence ; PAX7 transcription factor ; child ; muscle proteins ; nerve tissue proteins ; chromosomes, human, Pair 1 ; receptors, drug ; tumor cells, cultured ; electrophoresis, gel, pulsed-field ; molecular sequence data ; Wilms tumor; hepatoblastoma ; chromosomes, artificial, yeast ; Rhabdomyosarcoma ; homeodomain proteins ; Exons ; Beckwith-Wiedemann syndrome ; translocation, genetic ; cloning, molecular ; chromosome Breakage ; receptors, cannabinoid
Settore MED/03 - Genetica Medica
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/184524
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