Document Detail

Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor.
MedLine Citation:
PMID:  12461744     Owner:  NLM     Status:  MEDLINE    
Recent molecular studies have shown a relatively high rate of loss of heterozygosity (LOH) at band 7p15-21 in Wilms tumor. We previously reported that the minimal common region of LOH was located between markers D7S517 and D7S503 in bands 7p15-21. We also reported the identification of one Wilms tumor (GOS44) bearing a homozygous, interstitial deletion at a locus within this region. Homogeneous primary cell cultures have been derived from this tumor and have been used for all the subsequent analyses. Using PCR and a panel of STS markers mapping between D7S517 and D7S503, the physical boundaries of the homozygous deletion were determined to be between D7S638 and D7S644. The deleted region spans approximately 3 Mbp of genomic sequence and includes seven known genes (KIAA0744, KIAA0713, AHR, AGR2, NET6, HSPC028, and DGKB.) as well as five predicted genes with similarities to genes of known function (LOC-91802, -116364, -96009, -92511, and -92512). The proximal breakpoint was found to lie between exon 6 and exon 7 of KIAA0744, and the distal breakpoint lay between exon 17 and exon 18 of DGKB. It is unlikely that a functional fusion gene product was generated as a consequence of the fusion between these two genes, because they are oriented in opposite directions on the chromosome. This is the only reported homozygous deletion recorded so far in Wilms tumor, and it provides the means to identify the tumor-suppressor gene located in this deletion.
Khalid Sossey-Alaoui; Luís Vieira; Dezso David; Maria G Boavida; John K Cowell
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genes, chromosomes & cancer     Volume:  36     ISSN:  1045-2257     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2002-12-03     Completed Date:  2003-01-17     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9007329     Medline TA:  Genes Chromosomes Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1-6     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
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MeSH Terms
Chromosome Deletion*
Chromosomes, Human, Pair 7 / genetics*
DNA Mutational Analysis / methods
DNA, Neoplasm / genetics
Diacylglycerol Kinase / genetics
Genes, Wilms Tumor
Genetic Markers / genetics
Histone Deacetylases*
Loss of Heterozygosity / genetics*
Physical Chromosome Mapping / methods
Repressor Proteins / genetics
Tumor Cells, Cultured
Wilms Tumor / enzymology,  genetics*,  pathology
Grant Support
Reg. No./Substance:
0/DNA, Neoplasm; 0/Genetic Markers; 0/Repressor Proteins; EC Kinase; EC protein, human; EC Deacetylases

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