TY - JOUR A1 - Schwarz, Klaus A1 - Hameister, Horst A1 - Gessler, Manfred A1 - Grzeschik, Karl-Heinz A1 - Hansen-Hagge, Thomas E. A1 - Bartram, Claus R. T1 - Confirmation of the localization of the human recombination activating gene 1 (RAG1) to chromosome 11p13 N2 - The human recombination activating gene 1 (RAGl) has previously been mapped to chromosomes 14q and 11 p. Here we confirm the chromosome 11 assignment by two independent approaches: autoradiographic and fluorescence in situ hybridization to metaphase spreads and analysis of human-hamster somatic cell hybrid DNA by the polymerase chain reaction (PCR) and Southern blotting. Our results unequivocally localize RAG1 to llp13. KW - Biochemie Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59136 ER - TY - JOUR A1 - Schwartz, Faina A1 - Neve, Rachel A1 - Eisenman, Robert A1 - Gessler, Manfred A1 - Bruns, Gail T1 - A WAGR region gene between PAX-6 and FSHB expressed in fetal brain N2 - Developmental delay or mental retardation is a frequent component of multi-system anomaly syndromes associated with chromosomal deletions. Isolation of genes involved in the mental dysfunction in these disorders should define loci important in brain formation or function. We have identified a highly conserved locus in the distal part of 11 p 13 that is prominently expressed in fetal brain. Minimal expression is observed in a number of other fetal tissues. The gene maps distal to PAX-6 but proximal to the loci for brain-derived neurotrophic factor (BDNF) and the beta subunit of follicle stimulating hormone (FSHB), within a region previously implicated in the mental retardation component of some WAGR syndrome patients. Within fetal brain, the corresponding transcript is prominent in frontal, motor and primary visual cortex as weil as in the caudate-putamen. The characteristics of this gene, including the striking evolutionary conservation at the locus, suggest that the encoded protein may function in brain development. KW - Biochemie Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59125 ER - TY - JOUR A1 - Higgins, M. J. A1 - Smilinich, N. J. A1 - Sait, S. A1 - Koenig, A. A1 - Pongratz, J. A1 - Gessler, Manfred A1 - Richard III., C. W. A1 - James, M. R. A1 - Sanford, J. P. A1 - Kim, B.-W. A1 - Cattelane, J. A1 - Nowak, N. J. A1 - Winterpacht, A. A1 - Zabel, B. U. A1 - Munroe, D. J. A1 - Bric, E. A1 - Housman, D. E. A1 - Jones, C. A1 - Nakamura, Y. A1 - Gerhard, D. S. A1 - Shows, T. B. T1 - An Ordered NotI Fragment Map of Human Chromosome Band 11p15 N2 - An ordered NotI fragment map containing over 60 loci and encompassing approximately 17 Mb has been constructed for human chromosome band llpl5. Forty-two probes, including 11 NotI-linking cosmids, were subregionaUy mapped to llpl5 using a subset of the Jl-deletion hybrids. These and 23 other probes defining loci previously mapped to 11p15 were hybridized to genomic DNA digested with NotI and 5 other infrequently cleaving restriction enzymes and separated by pulsed-field gel electrophoresis. Thirty-nine distinct NotI fragments were detected encompassing approximately 85% of the estimated length of llp15. The predicted order of the gene loci used is cenMYODI- PTH-CALCA-ST5-RBTNI-HPX-HBB-RRMlTH/ INS!1GF2-H19-CTSD-MUC2-DRD4-HRAS-RNHtel. This map wiu allow higher resolution mapping of new Ilp15 markers, facilitate positional cloning of disease genes, and provide a framework for the physical mapping of llp15 in clone contigs. KW - Genom / Genkartierung / Genanalyse Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-45766 ER - TY - JOUR A1 - Vortkamp, Andrea A1 - Gessler, Manfred A1 - Paslier, D. Le A1 - Elaswarapu, R. A1 - Smith, S. A1 - Grzeschik, Karl-Heinz T1 - Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region N2 - Disruption of the zinc finger gene GLI3 has been shown to be the cause of Greig cephalopolysyndactyly syndrome (GCPS), at least in some GCPS translocation patients. To characterize this genomic region on human chromosome 7p13, we have isolated a VAC contig of more than 1000 kb including the GLI3 gene. In this contig the gene itself spans at least 200-250 kb. A CpG island is located in the vicinity of the 5' region of the known GLI3 cDNA, implying a potential promoter region. Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30182 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 -