{"title":"Suppressor genes for malignant and anchorage-independent phenotypes located on human chromosome 9 have no dosage effects.","authors":"M Q Islam, K Islam","doi":"10.1159/000015500","DOIUrl":"https://doi.org/10.1159/000015500","url":null,"abstract":"<p><p>We have previously shown that microcell-mediated transfer of a der(9)t(X;9) human chromosome (HSA), derived from human fibroblast strain GM0705, into the Syrian hamster cell line BHK-191-5C produced only near-tetraploid hybrids, although the recipient cell line contained a 1:1 ratio of near-diploid and near-tetraploid cells. However, the tumorigenicity and the anchorage independence could be suppressed in the near-tetraploid hybrids with one copy of the der(9)t(X;9) chromosome. The introduction of an HSA X chromosome did not suppress either of these phenotypes. We concluded that in addition to two suppressor genes, one for tumorigenicity and another for anchorage independence, HSA 9 might carry a third gene capable of inhibiting cellular growth in vitro, which had dosage effects. In the present study, keeping one copy of the der(9)t(X;9) chromosome, we have increased the hamster background chromosome number beyond hexaploid level by fusing two microcell-generated hybrid cell lines, where both malignant and anchorage-independent phenotypes were suppressed, with the parental malignant BHK-191-5C cell line. Tests with nude mice showed that hybrids containing one copy of the der(9)t(X;9) chromosome against the increased background of chromosomes of malignant parental origin were still suppressed for both phenotypes. These results suggest that the suppressor genes for malignancy and for anchorage independence have no dosage effects, in contrast to the suppressor gene(s) for cellular growth.</p>","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015500","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21623005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
V Fagundes, A U Christoff, J Scalzi-Martin, J Hozier, C A Moreira-Filho, Y Yonenaga-Yassuda
{"title":"X;Y translocation revealed by chromosome microdissection and FISH in fertile XY females in the Brazilian rodent Akodon montensis.","authors":"V Fagundes, A U Christoff, J Scalzi-Martin, J Hozier, C A Moreira-Filho, Y Yonenaga-Yassuda","doi":"10.1159/000015504","DOIUrl":"https://doi.org/10.1159/000015504","url":null,"abstract":"<p><p>In a Brazilian population of the neotropical rodent Akodon montensis we found five sex-reversed XY females. These animals were cytogenetically analyzed by chromosome painting using species-specific DNA probes from the Y chromosome, generated by chromosomal microdissection and subsequent use of the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The results showed a chromosome complement with an apparently normal Y chromosome and an X chromosome carrying a translocation that encompasses a large portion of the Y chromosome (seemingly the entire Y). Ovarian histology suggested that these females are fertile. Amplification of the SRY HMG box sequence by PCR shows that at least one copy of the Sry gene is present in the A. montensis XY females. Based on our findings, we suggest that the breakpoint of the X;Y translocation probably altered an X-linked sex-determining locus (or loci), blocking testicular organogenesis in the XY females. Further studies are necessary to determine the precise location and role of this putative sex-determining chromosomal region. Genetic mechanisms of XY sex reversal in A. montensis populations are discussed.</p>","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015504","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21623009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization.","authors":"M J Ha, J Yoon, E Moon, Y M Lee, H J Kim, W Kim","doi":"10.1159/000015482","DOIUrl":"https://doi.org/10.1159/000015482","url":null,"abstract":"The murine KIF4 gene, a member of the kinesin superfamily, is an anterograde microtubule-based motor protein for transporting membranous organelles (Sekine et al., 1994). The recent finding that it binds to murine retroviral gag polyproteins implies that the binding might play an important role in virus assembly (Kim et al., 1998). A combination of RT-PCR with cDNA library screening led to identification of human KIF4 (Genbank accession number AF071592). The nucleotide sequence comprised part of the 5) untranslated region (UTR), an open reading frame (ORF) encoding 1232 amino acids, and the entire 3) UTR. Homologies with the mouse KIF4 were 82 % and 85 % for nucleic acids and amino acids, respectively. Although it was found that human KIF4 associates with HIV gag proteins (Tang et al., in press), the function of human KIF4 is yet to be determined. Here we report the mapping of the KIF4 genes to human chromosomes Xq13.1 and 5q33.1.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015482","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21623120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.","authors":"A Solans, X Estivill, S de la Luna","doi":"10.1159/000015483","DOIUrl":"https://doi.org/10.1159/000015483","url":null,"abstract":"<p><p>We have identified a new human gene, FTCD, which maps to chromosome 21q22.3 and encodes the enzyme formiminotransferase cyclodeaminase, an intermediate metabolism enzyme that links histidine catabolism to folate metabolism. The major cDNA encodes a protein containing 541 amino acid residues and shows 84% identity with porcine FTCD. Several other cDNAs have been isolated, which may result from alternative splicing events and have the potential to code for three different protein isoforms. The gene is highly expressed in human fetal and adult liver. The two FTCD protein domains show high sequence similarity to two distinct open reading frames from eubacterial genomes, suggesting that eukaryotic FTCD appeared through a gene fusion event. Defects in the glutamate formiminotransferase pathway have been documented, and the deficiency is presumed to be inherited as an autosomal recessive trait. The sequence reported here may be helpful in identifying the primary defect in glutamate formiminotransferase deficiency and establishing a molecular diagnosis.</p>","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015483","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21623121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Assignment of the gene GRM1 coding for metabotropic glutamate receptor 1 to human chromosome band 6q24 by in situ hybridization.","authors":"S Ganesh, K Amano, K Yamakawa","doi":"10.1159/000015517","DOIUrl":"https://doi.org/10.1159/000015517","url":null,"abstract":"Metabotropic glutamate receptors (mGluRs) are important modulators of synaptic transmission and have been implicated in epilepsy, neurotoxicity and neurodegenerative disorders (Schoepp and Conn, 1993). Based on amino acid sequence similarity and agonist selectivity, mGluRs are divided into three groups (Pin and Duvoisin, 1995). Subtype mGluR1 classified as group I has been shown to stimulate the phosphoinositide hydrolysis pathway (Schoepp and Conn, 1993). Mice lacking the mGluR1 gene develop ataxic gait and intention tremor (Aiba et al., 1994). Previously, the human gene for mGluR1 (GRM1) was mapped on chromosome 6 by Southern hybridization using human/rodent somatic cell hybrids (Stephan et al., 1996) and radiation hybrid mapping placed this gene between the markers D6S453 and D6S311, about a 4-cM interval on 6q (G3 Map; www.ncbi.nlm.nih.gov/genemap99). Chromosome band 6q24 contains one of the loci for schizoaffective disorder (Kaufmann et al., 1998) and also the locus for Lafora type epilepsy (Sainz et al., 1997). Using a BAC/YAC based physical map constructed for the 6q24 region (Ganesh et al., unpublished) we refined the chromosome position of GRM1. We show that GRM1 is located on chromosome band 6q24, near the genetic marker D6S1480 but distal to EPM2A, a gene recently shown to be involved in Lafora disease (Minassian et al., 1998). Interestingly, GRIK2, the gene for ionotropic glutamate receptor kainate 2, is also located on 6q, at 6q16.3→q21 (Paschen et al., 1994). Materials and methods","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015517","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E S Tasheva, M Pettenati, C Von Kap-Her, G W Conrad
{"title":"Assignment of mimecan gene (OGN) to human chromosome band 9q22 by in situ hybridization.","authors":"E S Tasheva, M Pettenati, C Von Kap-Her, G W Conrad","doi":"10.1159/000015521","DOIUrl":"https://doi.org/10.1159/000015521","url":null,"abstract":"Mimecan is a small leucine-rich proteoglycan originally isolated in a truncated form as a bone-associated glycoprotein, osteoglycin (Madisen et al., 1990). It was later shown to be a corneal keratan sulfate proteoglycan (KSPG), present in other tissues without keratan sulfate chains (Funderburgh et al., 1997). Along with dermatan sulfate proteoglycans and collagens, KSPGs play a key role in the development and maintenance of corneal transparency. Recently, we isolated genomic clones and determined the genomic organization of the bovine mimecan gene, as well as a partial genomic structure of the human mimecan gene, OGN (Tasheva et al., 1999). By using fluorescence in situ hybridization (FISH), we have assigned OGN to human chromosome band 9q22. Materials and methods","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015521","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Identification and mapping of swine cyclin-dependent kinase inhibitor CDKN2A and CDKN2B exon 2 sequences.","authors":"C Le Chalony, H Hayes, G Frelat, C Geffrotin","doi":"10.1159/000015527","DOIUrl":"https://doi.org/10.1159/000015527","url":null,"abstract":"<p><p>We have isolated the swine homologs of human CDKN2A and CDKN2B exon 2 sequences. As in the human and mouse genomes, the exon 2 sequences of these two genes present a high level of sequence homology and are tightly linked. Using fluorescence in situ hybridization, we have mapped swine CDKN2A and CDKN2B to chromosome 1q25. This confirms the comparative mapping data among man, mouse, and swine, showing a conserved synteny among chromosome segments 9p21, 4C3-C6, and 1q25, respectively.</p>","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015527","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S Meloche, K Gopalbhai, B G Beatty, S W Scherer, J Pellerin
{"title":"Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32.","authors":"S Meloche, K Gopalbhai, B G Beatty, S W Scherer, J Pellerin","doi":"10.1159/000015530","DOIUrl":"https://doi.org/10.1159/000015530","url":null,"abstract":"<p><p>Activation of the ERK mitogen-activated protein (MAP) kinase pathway has been implicated in the regulation of cell growth, differentiation and senescence. In this pathway, the MAP kinases ERK1/ERK2 are phosphorylated and activated by the dual-specificity kinases MEK1 and MEK2, which in turn are activated by serine phosphorylation by a number of MAP kinase kinase kinases. We report here the chromosomal localization of the human genes encoding the MAP kinase kinase isoforms MEK1 and MEK2. Using a combination of fluorescence in situ hybridization, somatic cell hybrid analysis, DNA sequencing and yeast artificial chromosome (YAC) clone analysis, we have mapped the MEK1 gene (MAP2K1) to chromosome 15q21. We also present evidence for the presence of a MEK1 pseudogene on chromosome 8p21. The MEK2 gene (MAP2K2) was mapped to chromosome 7q32 by fluorescence in situ hybridization and YAC clone analysis.</p>","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015530","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Assignment of E-cadherin (CDH1) and KSP-cadherin (CDH16) to chromosome 16q22.1 by radiation hybrid mapping.","authors":"D Baudry, C Jeanpierre","doi":"10.1159/000015531","DOIUrl":"https://doi.org/10.1159/000015531","url":null,"abstract":"Cadherins are cellular adhesion molecules. Since disturbance of intracellular adhesion is important for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. A variety of solid tumors show loss of heterozygosity for the long arm of chromosome 16 (Austruy et al., 1995; Driouch et al., 1997), which is indicative of the potential localization of tumor suppressor genes. The homophilic cell adhesion molecule E-cadherin (CDH1) has been involved in gastric (Becker et al., 1994), breast (Berx et al., 1995) and gynecologic carcinomas (Risinger et al., 1994). This report refined localization of: (1) E-cadherin (CDH1), previously mapped to 16q22.1 on a panel of somatic cell hybrids (Callen et al., 1995) and between WI-9392 and D16S496 on the Genebridge 4 radiation hybrid panel (Hunstman et al., 1998); (2) KSP-cadherin (CDH16), previously mapped to chromosome 16q21-proximal 16q22 by in situ hybridization (Thomson et al., 1998). A more precise localization of these two genes in a publicly available radiation hybrid map will facilitate marker selection for linkage and loss of heterozygosity analyses. Materials and methods","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015531","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
F Vitelli, I Meloni, S Fineschi, F Favara, C Tiziana Storlazzi, M Rocchi, A Renieri
{"title":"Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.","authors":"F Vitelli, I Meloni, S Fineschi, F Favara, C Tiziana Storlazzi, M Rocchi, A Renieri","doi":"10.1159/000015533","DOIUrl":"https://doi.org/10.1159/000015533","url":null,"abstract":"<p><p>The contiguous gene deletion syndrome AMME is characterized by Alport syndrome, midface hypoplasia, mental retardation and elliptocytosis and is caused by a deletion in Xq22.3, comprising several genes including COL4A5, FACL4 and AMMECR1. We have now cloned the murine Facl4 and Ammecr1 genes and have mapped both novel murine genes to mouse chromosome X band F1-F3. The murine and human orthologs show 96.5% (FACL4) and 95.2% (AMMECR1) identity at the amino acid level, with conservation of the respective putative subcellular localization signals. Our results show that Facl4 and Ammecr1 are the true murine orthologs of the human genes. Furthermore, the mapping of Facl4 and Ammecr1 to MmuXF1-F3 suggests that this subinterval is orthologous, at least for a portion of Xq22. 3.</p>","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015533","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}