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

Cytogenet Cell Genet. 2000;88(3-4):289-95. doi: 10.1159/000015542.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Beckwith-Wiedemann Syndrome / complications
  • Child
  • Chromosome Breakage / genetics*
  • Chromosome Walking
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 1 / genetics*
  • Cloning, Molecular
  • Contig Mapping
  • Electrophoresis, Gel, Pulsed-Field
  • Exons / genetics
  • Genetic Linkage / genetics
  • Hepatoblastoma / complications
  • Hepatoblastoma / genetics*
  • Homeodomain Proteins*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Muscle Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • PAX7 Transcription Factor
  • Receptors, Cannabinoid
  • Receptors, Drug / genetics
  • Rhabdomyosarcoma / complications
  • Rhabdomyosarcoma / genetics*
  • Translocation, Genetic / genetics*
  • Tumor Cells, Cultured
  • Wilms Tumor / complications
  • Wilms Tumor / genetics*

Substances

  • Homeodomain Proteins
  • Muscle Proteins
  • Nerve Tissue Proteins
  • PAX7 Transcription Factor
  • PAX7 protein, human
  • Receptors, Cannabinoid
  • Receptors, Drug

Associated data

  • GENBANK/AF222044
  • GENBANK/AF222045
  • GENBANK/AF222046
  • GENBANK/AF222047