TY  - JOUR
A1  - Gessler, Manfred
A1  - König, A.
A1  - Bruns, G. A. P.
T1  - The genomic organization and expression of the WT1 gene
N2  - The Wilms tumor gene WTl, a proposed tumor suppressor gene, has been identifled based on its location within a homozygous deletion found in tumor tissue. The gene encodes a putative transcription factor containing a Cys/His zinc finger domain. The critical homozygous deletions, however, are rarely seen, suggesting that in many cases the gene may be inactivated by more subtle alterations. To facilitate the seareh for smaller deletions and point mutations we have established the genomic organization of the WTl gene and have determined the sequence of all 10 exons and flanking intron DNA. The pattern of alternative splicing in two regions has been characterized in detail. These results will form the basis for future studies of mutant alleles at this locus.
KW  - Biochemie
Y1  - 1992
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59195
ER  - 
TY  - JOUR
A1  - van Heyningen, V.
A1  - Bickmore, W. A.
A1  - Seawright, A.
A1  - Fletcher, J. M.
A1  - Maule, J.
A1  - Fekete, G.
A1  - Gessler, Manfred
A1  - Bruns, G. A.
A1  - Huerre-Jeanpierre, C.
A1  - Junien, C.
T1  - Role for the Wilms tumor gene in genital development?
N2  - No abstract available
KW  - Biochemie
Y1  - 1990
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59238
ER  - 
TY  - JOUR
A1  - Gessler, Manfred
A1  - König, A.
A1  - Arden, K.
A1  - Grundy, P.
A1  - Orkin, S. H.
A1  - Sallan, S.
A1  - Peters, C.
A1  - Ruyle, S.
A1  - Mandell, J.
A1  - Li, F.
A1  - Cavenee, W.
A1  - Bruns, G. A.
T1  - Infrequent mutation of the WT1 gene in 77 Wilms' Tumors
N2  - Homozygous deletions in Wilms' tumor DNA have been a key step in the identification and isolation of the WTI gene. Several additional loci are also postulated to contribute to Wilms' tumor formation. To assess the frequency of WTI alterations we have analyzed the WTI locus in a panel of 77 Wilms' tumors. Eight tumors showed evidence for large deletions of several hundred or thousand kilobasepairs of DNA, some of which were also cytogenetically detected. Additional intragenic mutations were detected using more sensitive SSCP analyses to scan all 10 WTI exons. Most of these result in premature stop codons or missense mutations that inactivate the remaining WTI allele. The overall frequency of WTI alterations detected with these methods is less than 15%. While some mutations may not be detectable with the methods employed, our results suggest that direct alterations of the WTI gene are present in only a small fraction of Wilms' tumors. Thus, mutations at other Wilms' tumor loci or disturbance of interactions between these genes likely play an important role in Wilms' tumor development.
KW  - Wilms' tumor
KW  - WTI
KW  - Zinc finger gene
KW  - Tumor suppressor gene
KW  - Nephroblastoma
KW  - Deletion analysis
KW  - SSCP analysis
KW  - Mutation screening
Y1  - 1994
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-34308
ER  - 
TY  - JOUR
A1  - Gessler, Manfred
A1  - Bruns, G. A. P.
T1  - A physical map around the WAGR complex on the short arm of chromosome 11
N2  - A long-range restriction map of part of the short arm of ehromosome 11 including the WAGR region has been constructed using pulsed-field gel electrophoresis and a number of infrequently cutting restriction enzymes. A total of 15.4 Mbp has been mapped in detall, extending from proximal 11p14 to the distal part of 11p12. The map localizes 35 different DNA probes and reveals at least nine areas with features eharaeteristle of BTF islands, some of which may be candidates for the different loci underlying the phenotype of the WAGR syndrome. This map will furthermore allow screening of DNA from individuals with WAGR-related phenotypes and from Wilms tumors for associated chromosomal rearrangements.
KW  - Biochemie
Y1  - 1989
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59246
ER  - 
TY  - JOUR
A1  - Gessler, Manfred
A1  - Thomas, G. H.
A1  - Couillin, P.
A1  - Junien, C.
A1  - McGillivray, B. C.
A1  - Hayden, M.
A1  - Jaschek, G.
A1  - Bruns, G. A.
T1  - A deletion map of the WAGR region on chromosome II
N2  - The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. We have utilized 31 DNA probes which map to the WAGR deletion region, together with six reference loci and 13 WAGR-related deletions, to subdivide this area into 16 intervals. Specific intervals have been correlated with phenotypic features, leading to the identification of individual subregions for the aniridia and Wilms tumor loci. Delineation, by specific probes, of multiple intervals above and below the critical region and of five intervals within the overlap area provides a framework map for molecular characterization of WAGR gene loci and of deletion boundary regions.
KW  - Biochemie
Y1  - 1989
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59255
ER  -