@article{GesslerKonigMooreetal.1993, author = {Gessler, Manfred and Konig, Anja and Moore, Jay and Qualman, Steven and Arden, Karen and Cavenee, Webster and Bruns, Gail}, title = {Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59146}, year = {1993}, abstract = {Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate II p 13 Wilms' tumor gene, WTI, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome II allele encompassing the WTI gene. Analysis of the remaining WTI allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WTI polypeptide as a transcriptional regulator.}, subject = {Biochemie}, language = {en} } @article{HenryHooversBarichardetal.1993, author = {Henry, Isabelle and Hoovers, Jan and Barichard, Fernande and Berth{\´e}as, Marie-Francoise and Puech, Anne and Prieur, Fabienne and Gessler, Manfred and Bruns, Gail and Mannens, Marcel and Junien, Claudine}, title = {Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59157}, year = {1993}, abstract = {The combined use of qualitative and quantitative analysis of I I p I 3 polymorphic markers tagether with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to I I p allowed us to characterize a complex rearrangement segregating in a family. We detected a pericentric intrachromosomal insertion responsible (or recurrence of del( I I )(p 13p 14) in the family: an insertion of band I I p 13-p 14 carrying the genes for predisposition to Wilms' tumor, WT I, and for aniridia, AN2, into the long arm of chromosome I I in II q 13-q 1<4. Asymptomatic balanced carriers were observed over three generations. Classical cytogenetics had failed to detect this anomaly in the balanced carriers, who were first considered to be somatic mosaics for del( II )(p 13). Two of these women gave birth to children carrying a deleted chromosome II. most likely resulting from the loss of the I I p 13 band inserted in I I q. Although in both cases the deletion encompassed exactly the same maternally inherited markers, there was a wide Variation in clinical expression. One child, with the karyotype 46,XY,del(ll)(pllpl4), presented the full-blown WAGR syndrome with anlridia, mental retardation, Wilms' tumor, and pseudohermaphroditism, but also had proteinuria and glomerular sclerosis reminiscent of Drash syndrome. In contrast, the other one, a girl with the karyotype 46,XX,del( I I )(p I 3), only had aniridia. Although a specific set of mutational sites has been observed in Drash patients, these findings suggest that the loss of one copy of the WTI gene can result in similar genital and kidney abnormalities.}, subject = {Biochemie}, language = {en} } @article{KonigJakubiczkaWieackeretal.1993, author = {Konig, Anja and Jakubiczka, Sybille and Wieacker, Peter and Schl{\"o}sser, Hans W. and Gessler, Manfred}, title = {Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59167}, year = {1993}, abstract = {No abstract available}, subject = {Biochemie}, language = {en} } @article{KruseShenArnoldetal.1993, author = {Kruse, N. and Shen, B. J. and Arnold, S. and Tony, H. P. and M{\"u}ller, T. and Sebald, Walter}, title = {Two distinct functional sites of human interleukin 4 are identified by variants impaired in either receptor binding or receptor activation}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-62451}, year = {1993}, abstract = {Interleukin 4 (IL-4) exerts a decisive role in the coord.ination of proteelive immune responses against parasites, particularly helminths. A disregulation of ll.r4 function is possibly involved in the genesis of allergic disease states. The search for important amino acid residues in human ll.r4 by mutational analysis of charged invariant amino acid positions identified two distinct functional sites in the 4-helix-bundle protein. Site 1 was marked by amino acid substitutions of the glutamic acid at position 9 in helix A and arginine at position 88 in helix C. Exchanges at both positions led to IL-4 variants deficient in binding to the extracellular domain of the ll.r4 receptor (IL-4ReJ. In parallel, up to 1000-fold increased concentrations of this type of variant were required to induce T -cell proliferation and B-eeil CD23 expression. Site 2 was marked by amino acid exchanges in helix D at positions 121, 124 and 125 (arginine, tyrosine and serine respectively in the wild-type).ß.A variants affected at site 2 exhibited partial agonist activity during T -cell proliferation; however, they still bound with high affinity to IL-4Rex. [The generation of an IL-4 antagonist by replacing tyrosine 124 with aspartic acid has been described before by Kruse et al. (1992) (EMBO }., 11, 3237-3244)]. These findings indicate that IL-4 functions by bind.ing IL-4Rex via site 1 which is constituted by residues on helices A and C. They further suggest that the association of a second, still undetined receptor protein with site 2 in helix D activates the receptor system and generates a transmembrane signal.}, subject = {Biochemie}, language = {en} } @article{HongSchartl1993, author = {Hong, Yunhan and Schartl, Manfred}, title = {Sequence of the growth hormone (GH) gene from the silver carp (Hypophthalmichthys molitrix) and evolution of GH genes in vertebrates}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61620}, year = {1993}, abstract = {The silver carp (Hypophthalmichthys molitrix) growth hormone (GH) genewas isolated and sequenced following amplification from genomic DNA by the polymerase chain reaction. The gene spans a region of approx. 2.5 kb nucleotides (nt) and consists of five exons. The sequence predicts a polypeptide of 210 amino acids (aa) including a putative signal peptide of 22 hydrophobic aa residues. The arrangement of exons and introns is identical to the GH genes of common carp, grass carp, and very similar to mammals and birds, but quite different from that for the GH genes of tilapia and salmonids. The silver carp GH gene shares a high homology at the nt and aa Ievels with those of grass carp (95.3\% nt, 99.5\% aa) and of common carp (81\% nt, 95.7\% aa).}, subject = {Physiologische Chemie}, language = {en} } @article{AdamDimitrijevicSchartl1993, author = {Adam, Dieter and Dimitrijevic, Nicola and Schartl, Manfred}, title = {Tumor suppression in Xiphophorus by an accidentally acquired promoter}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61630}, year = {1993}, abstract = {Melanoma formation in the teleost Xiphophorus is caused by a dominant genetic locus, Tu. This locus includes the Xmrk oncogene, which encodes a receptor tyrosine kinase. Tumor induction is. suppressed in wild-type fish by a tumor suppressor locus, R. Molecular genetic analyses revealed that the Tu locus emerged by nonhomologaus recombination of the Xmrk proto-oncogene with a previously uncharacterized sequence, D. This event generated an additional copy of Xmrk with a new promoter. Suppression of the new Xmrk promoter by R in parental fish and its deregulation in hybrids explain the genetics of melanoma formation in Xiphophorus.}, subject = {Physiologische Chemie}, language = {en} } @article{SchartlErbeldingDenkHolteretal.1993, author = {Schartl, Manfred and Erbelding-Denk, Claudia and Holter, Sabine and Nanda, Indrajit and Schmid, Michael and Schroder, Johannes H. and Epplen, J{\"o}rg T.}, title = {Reproductive failure of dominant males in the poeciliid fish Limia perugiae determined by DNA fingerprinting}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61643}, year = {1993}, abstract = {Hierarchical structures among male indlviduals in a population are frequently reflected ln differences in aggressive and reproductive behavior and access to the females. In general, sodal dominance requires the Investments, which in turn then may have to be compensated for by high reproductive success. However, this hypothesls has so far only been sufficiently tested in small mating groups (one or two males with one or two females) due to the difficulties of determining paternity by conventional methods. DNA fingerprinting overcomes these problems by offering the possibility to determine genetic relationships and mating patterns within larger groups [Borke, T. (1989) Trends Ecol. Evol. 4, 139-144]. We show here that in the poecUiid fish Limia perugitu, in small matlng groups the dominant male has 8 mating success of 100\%, whereas ln larger groups lts contribution to the offspring unexpectedly drops to zero.}, subject = {Physiologische Chemie}, language = {en} } @article{NandaSchartlEpplenetal.1993, author = {Nanda, Indrajit and Schartl, Manfred and Epplen, J{\"o}rg T. and Feichtinger, Wolfgang and Schmid, Michael}, title = {Primitive sex chromosomes in poeciliid fishes harbor simple repetitive DNA sequences}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61659}, year = {1993}, abstract = {The demonstration ofthe chromosomal mode ofsex determinationvia genetic experiments as well as the absence of heteromorphic sex chromosomes affirm poeciliid fishes as a unique group among vertebrates that are endowed with the mostprimitive form of sex chromosornes. In many different taxa the evolutionary process involved in the differentiation ofadvanced sex chromosomes is outlined through sex specifically organized repetitive sequences. In this investigation hydridization of synthetic probes specific to genomic simple repeat motifs uncovers a sex-specific hybridization pattern in certain viviparaus fishes ofthe family Poeciliidae. The hybridization pattern together with specific staining ofthe constitutive heterochromatin by C-banding reveals heterogamety in males (Poecilia reticulata) as weil as in females (P. sphenops). In P. velifera, however, C-banding alone fails to unravel the heterogametic status. The female specific W-chromosome can be detected by simple repetitive sequence probes. Therefore, the principal significance of heterochromatization as a means of generating differentiated sex chromosomes is evident.}, subject = {Physiologische Chemie}, language = {en} } @article{HongWinklerBremetal.1993, author = {Hong, Yunhan and Winkler, Christoph and Brem, Gottfried and Schartl, Manfred}, title = {Development of a heavy metal-inducible fish-specific expression vector for gene transfer in vitro and in vivo}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61666}, year = {1993}, abstract = {The promoter of the rainbow trout metallothionein B gene ( tMTb) was isolated from genomic DNA by the polymerase chain reaction (PCR ), fused to the bacterial chloramphenicol acetyltransferase (CAT) genein an expression vector, and functionally analyzed in one human cellline and four fish celllines. This promoter exhibited an extremely low basal expression in all celllines and was zincand cadmium-inducible except in the fish melanoma cell line where the promoter was completely inactive. The metal-induced expression patterns were cellline-specific. In general the fish promoter was more species- and cell type-specific than its human counterpart. In a transient assay it was functional in developing embryos of the medaka ( Oryzias /atipes). These properties make this promoter suitable for inducible, tissue-specific expression of transgenes and for in vivo studies of gene function and regulation.}, subject = {Physiologische Chemie}, language = {en} } @article{MaeuelerSchartlSchartl1993, author = {M{\"a}ueler, Winfried and Schartl, Angelika and Schartl, Manfred}, title = {Different expression patterns of oncogenes and proto-oncogenes in hereditary and carcinogen-induced tumors of Xiphophorus}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61592}, year = {1993}, abstract = {Hereditary melanoma in Xiphophorus hybrids canying the melanoma·induclng Tu-Sd locus is caused by transcriptional activation of the Xmrk gene that resides at the Tu·Sd locus and encodes a novel member of receptor tyrosine kinases (RTK). ln this study, a total of 17 hereditary melanomas from various hybrid genotypes harbouring 7 different Tu alleles were also found to aver-express the correspondlng Xmrlc alleles. The Ievei of over-expression correlated with the degree of malignancy of the melanoma. ln addition, Xsrc expression was high ln many malignant melanomas. Expression pattems and Ieveis of the Xiphophorus EGF-receptor gene (Xerb B), the c-myc (Xmyc), and the PDGF (Xsls) gene(s) were not intriguing. Transcription of the ras gene(s) may be correlated to secondary events of melanoma progression. Expression pattems of Xfms, the Xiphophorus CSF-1 receptor homologue, can be explained by different contents of infiltrating macrophages in the tumors. ln carcinogen-induced tumors includlng one melanoma no significant expression of the Xmrk oncogene could be detected. Xsrc expression, however, was strikingly high. This indicates that activation of oncogenes other than Xmrk ls instrumental in tumorigenesls of neoplasia of non-hereditary origin.}, subject = {Physiologische Chemie}, language = {en} } @article{SchliewenFrickeSchartletal.1993, author = {Schliewen, U. and Fricke, H. and Schartl, Manfred and Epplen, J{\"o}rg T. and Paabo, S.}, title = {Which home for coelacanth?}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61606}, year = {1993}, abstract = {No abstract available}, subject = {Physiologische Chemie}, language = {en} } @article{CavariHongFunkensteinetal.1993, author = {Cavari, Benzion and Hong, Yunhan and Funkenstein, Bruria and Moav, Boaz and Schartl, Manfred}, title = {All-fish gene constructs for growth hormone gene transfer in fish}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-61612}, year = {1993}, abstract = {In order to develop all-fish expression vectors for microinjection into fertilized fish eggs, we have prepared the following cunstructs: rainbow trout metallothionein a/b and the gilthead seabream growth hormone cDNA (ptMTa-gbsGHcDNA, ptMTb-gsbGHcDNA), carp ß-actin gilthead seabream GH cDNA (pcAßgsbGHcDNA). The inducible metallothionein promoters a and b were cloned from rainbow trout, and the constitutive promoter ß-actin was isolated from carp. The metallothionein promoters were cloned by using the PCR technique. The tMTa contains 430 bp, while the tMTb contains 260 bp (Hong et al. 1992). These two promoters were introduced to pGEM-3Z containing the GH cDNA of Sparus aurata to form ptMTa-gsbGH and ptMTb-gsbGH, respectively. The carp cytoplasmic ß-actin gene was chosen as a source for isolating strong constitutive regulatory sequences. One of these regulatory sequences in pUC118 was Iigated to GH cDNA of S. aurata to form the pcAß-gsbGHcDNA. Expression of the constructs containing the metallothionein promoters was tested in fish cell culture and was found tobe induced effectively by zinc. The ptMTa gsb-GH cDNA construct was microinjected into fertilized carp eggs, and integration in the genome of carp was detected in the DNA isolated from fins at the age of two months.}, subject = {Physiologische Chemie}, language = {en} } @article{PoulatMorinKonigetal.1993, author = {Poulat, F. and Morin, D. and Konig, A. and Brun, P. and Giltay, J. and Sultan, C. and Dumas, R. and Gessler, Manfred and Berta, P.}, title = {Distinct molecular origins for Denys-Drash and Frasier syndromes}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59172}, year = {1993}, abstract = {The direct involvment of the Wilm's tumor suppressor gene (WTl) in Denys-Drash syndrome through mutations within exons 8 or 9 has recently been established. The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure.}, subject = {Biochemie}, language = {en} } @article{WilkenKossnerSenecaletal.1993, author = {Wilken, Norbert and Kossner, Ursula and Sen{\´e}cal, Jean-Luc and Scheer, Ulrich and Dabauvalle, Marie-Christine}, title = {Nup180, a novel nuclear pore complex protein localizing to the cytoplasmic ring and associated fibrils}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-32049}, year = {1993}, abstract = {No abstract available}, language = {en} } @misc{ScheerThiryGoessens1993, author = {Scheer, Ulrich and Thiry, Marc and Goessens, Guy}, title = {Structure, function and assembly of the nucleolus}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-32057}, year = {1993}, abstract = {No abstract available}, language = {en} } @article{FischerHockScheer1993, author = {Fischer, Dagmar and Hock, Robert and Scheer, Ulrich}, title = {DNA Topoisomerase II is not detectable on lampbrush chromosomes but enriched in the amplified nucleoli of xenopus oocytes}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-32654}, year = {1993}, abstract = {In somatic cells DNA topoisomerase II (topo II) is thought to be involved in the domain Organization of the genome by anchoring the basis of chromatin loops to a chromosomal scafFold. Lampbrush chromosomes of am-phibian oocytes directly display this radial loop Organization in cytological preparations. In order to find out whether topo II may play a role in the Organization of these meiotic chromosomes, we performed immunofluorescence studies using antibodies against Xenopus topo II. Our results indicate that topo II is apparently absent from lampbrush chromosomes and is hence unlikely to act as a "fastener" of the numerous lateral chromosomal loops. Topo II was, however, enriched in the amplified nucleoli of Xenopus oocytes.}, language = {en} } @misc{GesslerBruns1993, author = {Gessler, Manfred and Bruns, Gail A.}, title = {Sequence of the WT1 upstream region including the Wit-1 gene}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-30193}, year = {1993}, abstract = {No abstract available}, language = {en} } @inproceedings{DandekarArgos1993, author = {Dandekar, Thomas and Argos, P.}, title = {Genetic algorithms as a new tool to study protein stability}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-29990}, year = {1993}, abstract = {No abstract available}, language = {en} } @misc{DandekarArgos1993, author = {Dandekar, Thomas and Argos, P.}, title = {Drug assay using antibody mimics made by molecular imprinting}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-30003}, year = {1993}, abstract = {No abstract available}, language = {en} } @article{DandekarTollervey1993, author = {Dandekar, Thomas and Tollervey, David}, title = {Identification and functional analysis of a novel yeast small nucleolar RNA}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-29850}, year = {1993}, abstract = {No abstract available}, language = {en} }