Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs

Genomics
K K WilgenbusA Poustka

Abstract

Recently we demonstrated the clustering of deletion breakpoints in the pericentromeric region of human chromosome 17p in human primitive neuroectodermal tumors (PNETs). Chromosomal disruption was shown to occur between the two markers D17S805 and D17S953, a region previously shown to be deleted in the Smith-Magenis syndrome. To characterize the molecular basis of this genomic instability, we established clone contigs covering this region. An initial physical map of chromosome 17p has been constructed with overlapping sets of YACs. YAC clones were transformed into five clone contigs according to their content of 30 previously known and 16 newly established sequence-tagged sites (STSs). To circumvent the complications inherent in YAC technologies, such as internal deletions, chimerism, and complex rearrangements, we then converted the YAC contigs to PAC and cosmid contigs. Thirty-nine individual PAC/cosmid clones were identified and were used to construct six different PAC/cosmid contigs ranging from 130 to 1200 kb in size and covering approximately 2.5 Mb of genomic DNA. The composite YAC/PAC/cosmid map covers a region of > 6 Mb of genomic DNA consisting of four different clone contigs of up to 2.9 Mb in size. We have demonstrat...Continue Reading

References

Jul 1, 1986·American Journal of Medical Genetics·A C SmithE Magenis
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Citations

Jan 19, 2006·Genes, Chromosomes & Cancer·Frank MendrzykBernhard Radlwimmer
Jun 24, 1999·Genes, Chromosomes & Cancer·W G ScheurlenO A Haas
Jan 4, 1998·Journal of Pediatric Hematology/oncology·J A Biegel
Mar 10, 2004·Biological Reviews of the Cambridge Philosophical Society·William G Eberhard

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