Cytogenetics and cell genetics最新文献

{"title":"Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene.","authors":"R L Prueitt,&nbsp;J L Ross,&nbsp;A R Zinn","doi":"10.1159/000015560","DOIUrl":"https://doi.org/10.1159/000015560","url":null,"abstract":"<p><p>Women with balanced translocations between the long arm of the X chromosome (Xq) and an autosome frequently suffer premature ovarian failure (POF). Two \"critical regions\" for POF which extend from Xq13-->q22 and from Xq22-->q26 have been identified using cytogenetics. To gain insight into the mechanism(s) responsible for ovarian failure in women with X;autosome translocations, we have molecularly characterized the translocation breakpoints of nine X chromosomes. We mapped the breakpoints using somatic cell hybrids retaining the derivative autosome and densely spaced markers from the X-chromosome physical map. One of the POF-associated breakpoints in a critical region (Xq25) mapped to a sequenced PAC clone. The translocation disrupts XPNPEP2, which encodes an Xaa-Pro aminopeptidase that hydrolyzes N-terminal Xaa-Pro bonds. XPNPEP2 mRNA was detected in fibroblasts that carry the translocation, suggesting that this gene at least partially escapes X inactivation. Although the physiologic substrates for the enzyme are not known, XPNPEP2 is a candidate gene for POF. Our breakpoint mapping data will help to identify additional candidate POF genes and to delineate the Xq POF critical region(s).</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/10.1159/000015560","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21737195","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":"Chromosome mapping of RNF16 and rnf16, human, mouse and rat genes coding for testis RING finger protein (terf), a member of the RING finger family.","authors":"S Ogawa,&nbsp;T Saito,&nbsp;Y Matsuda,&nbsp;N Seki,&nbsp;A Hayashi,&nbsp;A Orimo,&nbsp;T Hosoi,&nbsp;Y Ouchi,&nbsp;M Muramatsu,&nbsp;T Hori,&nbsp;S Inoue","doi":"10.1159/000015564","DOIUrl":"https://doi.org/10.1159/000015564","url":null,"abstract":"<p><p>RNF16 (ring finger protein 16; alias terf), a member of the RING finger family, has been shown to be exclusively expressed in the testis. Human RNF16 is located at 1q42 based on PCR-assisted analysis of both a human/rodent mono-chromosomal hybrid cell panel and a radiation hybrid-mapping panel. On the other hand, chromosomal mapping of the RNF16 gene by fluorescence in situ hybridization reveals that mouse Rnf16 is located at 11B1.2-B1.3 and rat Rnf16 at 10q22. These results provide additional evidence that the mouse 11B region displays conserved linkage homology with the rat 10q22 region, whereas in the case of RNF16, this homology is only conserved among rodents, distinct from the 1q42 region of the human genome.</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/10.1159/000015564","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21737199","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 PDZ domain-containing protein GIPC gene (C19orf3) to human chromosome band 19p13.1 by in situ hybridization and radiation hybrid mapping.","authors":"C Von Kap-Herr,&nbsp;G Kandala,&nbsp;S S Mann,&nbsp;T C Hart,&nbsp;M J Pettenati,&nbsp;V Setaluri","doi":"10.1159/000015621","DOIUrl":"https://doi.org/10.1159/000015621","url":null,"abstract":"PDZ domain-containing proteins, by virtue of protein-protein interactions, participate in receptor clustering and intracellular signaling. PDZ domain was first identified in postsynaptic density protein, Drosophila disc large protein and zona occludens 1 (ZO-1) a tight junction protein 1 (TJP1) (Saras and Heldin, 1996; Ponting et al., 1997). GIPC is a PDZ domain containing protein identified by virtue of its binding to the carboxyl terminus of the G·i3–interacting protein GAIP (GNAI3IP) (De Vries at al., 1998a). Localization of GAIP (GNAI3IP), a regulator of G protein signaling, to clathrin-coated vesicles suggests a role for these interactions in intracellular vesicular trafficking (De Vries et al., 1998b). GIPC is highly conserved between mouse, rat and human (De Vries et al., 1998b). We isolated GIPC cDNA using yeast two-hybrid analysis by its ability to interact with the cytoplasmic tail of human melanosomal protein brown/gp75/TRP-1 (TYRP1) (Vijayasaradhi et al., 1995, and manuscript in preparation). Here we report the assignment of C19orf3, the gene encoding GIPC protein to human chromosome 19p13.1 by fluorescence in situ hybridization and more specifically linked to the genetic marker SHGC1187 by radiation hybrid mapping. 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/10.1159/000015621","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21800135","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 neurofibromatosis 2 (Nf2) gene to rat chromosome bands 14q21-->q22 by in situ hybridization.","authors":"A Kindler-Röhrborn,&nbsp;S Zabel,&nbsp;B U Koelsch","doi":"10.1159/000015628","DOIUrl":"https://doi.org/10.1159/000015628","url":null,"abstract":"Neurofibromatosis 2, a rare disorder predisposing humans to the development of Schwann cell, meningeal, and glial neoplasms, is caused by a germ line defect in the NF2 tumor suppressor gene (Gusella et al., 1999). NF2 has been mapped to HSA 22q12. The majority of human sporadic schwannomas and meningeomas display mutations in the NF2 gene often accompanied by allelic loss of the other chromosome 22q (Louis et al., 1995). The tumor suppressor function of the NF2 gene product, Merlin, a member of the protein 4.1 superfamily, is not yet understood. The induction of malignant schwannomas in the rat by ethylnitrosourea represents a model for tumorigenesis in the peripheral nervous system (Druckrey et al., 1970). So far it is not known whether inactivation of Nf2 is involved in the generation of these tumors. Here we report the precise chromosome location of the Nf2 gene as a prerequisite for further investigations. 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/10.1159/000015628","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21800142","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":"The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4.","authors":"R A White,&nbsp;L M Pasztor,&nbsp;P M Richardson,&nbsp;L I Zon","doi":"10.1159/000015632","DOIUrl":"https://doi.org/10.1159/000015632","url":null,"abstract":"<p><p>TBC1D1 is the founding member of a family of related proteins with homology to tre-2/UPS6, BUB2, and cdc16 and containing the tbc box motif of 180-220 amino acids. This protein family is thought to have a role in differentiation and in regulating cell growth. We set out to map the TBC1D1 gene in mouse and human. Segregation analysis of a TBC1D1 RFLP in two independent mouse RI (recombinant inbred) lines reveals that mouse Tbc1d1 is closely linked to Pgm1 on chromosome 5. The human TBC1D1 gene was assigned to human chromosome 4p15.1-->4q21 using Southern blot analyses of genomic DNAs from rodent-human somatic cell lines. A human-specific genomic fragment was observed in the somatic cell lines containing human chromosome 4 or the 4p15.1-->4q21 region of the chromosome. TBC1D1 maps to the region containing the ortholog of mouse Pgm1 adding another locus to this long region of conserved synteny between mouse and man.</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/10.1159/000015632","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21800146","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 human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation.","authors":"T L Harboe,&nbsp;Z Tümer,&nbsp;C Hansen,&nbsp;N A Jensen,&nbsp;N Tommerup","doi":"10.1159/000015600","DOIUrl":"https://doi.org/10.1159/000015600","url":null,"abstract":"Zinc finger genes comprise a large family of genes, which have been associated with normal and abnormal development, including development of extremities, regulation of neuronal gene expression (Theil et al., 1999), motor neuron development and migration (Baum et al., 1999), and abnormal brain development (Karlstrom et al., 1999). Zinc finger genes have also been associated with cancer (Stein et al., 1999) and systemic lupus erythematosus (Tsao et al., 1999). The human zinc finger gene, ZNF288, has high homology to a novel murine POZ/zinc finger transcription factor encoding gene, Oda-8, which is expressed in developing neurons during mouse brain development (Kjaerulf et al., unpublished, accession number AL050276). Although the function of ZNF288 remains to be elucidated, it is tempting to speculate that ZNF288 codes for a protein that may be involved in brain development. Here we report the assignment of the human ZNF288 gene to human chromosome 3q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation (FISH). 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/10.1159/000015600","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21800881","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":"Comparative FISH mapping of bovid X chromosomes reveals homologies and divergences between the subfamilies bovinae and caprinae.","authors":"L Iannuzzi,&nbsp;G P Di Meo,&nbsp;A Perucatti,&nbsp;D Incarnato,&nbsp;L Schibler,&nbsp;E P Cribiu","doi":"10.1159/000015607","DOIUrl":"https://doi.org/10.1159/000015607","url":null,"abstract":"Comparative FISH mapping of river buffalo (Bubalus bubalis, BBU), sheep (Ovis aries, OAR), and cattle (Bos taurus, BTA) X chromosomes revealed homologies and divergences between the X chromosomes in the subfamilies Bovinae and Caprinae. Twenty-four and 17 loci were assigned for the first time to BBU X and OAR X, respectively, noticeably extending the physical map in these two species. Seventeen loci (four of which for the first time) were also FISH mapped to BTA X and used for comparative mapping studies on the three species, which show three morphologically different X chromosomes: an acrocentric (BBU X), an acrocentric with distinct short arms (OAR X), and a submetacentric (BTA X). The same order of loci were found on BTA X and BBU X, suggesting that a centromere transposition, with loss (cattle) or acquisition (river buffalo) of constitutive heterochromatin, differentiated the X chromosomes of these two bovids. Comparison of bovine (cattle and river buffalo) and caprine (sheep) X chromosomes revealed at least five common chromosome segments, suggesting that multiple transpositions, with retention or loss of constitutive heterochromatin, had occurred during their karyotypic evolution.","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/10.1159/000015607","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21800889","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":"Jumping translocations in spontaneous abortions.","authors":"B Levy,&nbsp;T M Dunn,&nbsp;K Hirschhorn,&nbsp;N Kardon","doi":"10.1159/000015478","DOIUrl":"https://doi.org/10.1159/000015478","url":null,"abstract":"<p><p>Chromosome translocations involving one donor chromosome and multiple recipient chromosomes have been referred to as jumping translocations (JTs). Acquired JTs are commonly observed in cancer patients, mainly involving chromosome 1. Constitutional forms of JTs mostly involve the acrocentric chromosomes and their satellites and have been reported in patients with clinical abnormalities. Recognizable phenotypes resulting from these events have included Down, Prader-Willi, and DiGeorge syndromes. The presence of JTs in spontaneous abortions has not been previously described. The breakpoints of all JTs occur in areas rich in repetitive DNA (telomeric, centromeric, and nucleolus organizing regions). We report two different unstable chromosome rearrangements in samples derived from spontaneous abortions. The first case involved a chromosome 15 donor. The recipient chromosomes were 1, 9, 15, and 21, and the respective breakpoints were in either the heterochromatic regions or the centromeres. FISH studies confirmed that the breakpoints of the jumping 15 rearrangement did not involve the Prader-Willi region but originated at the centromere or in the proximal short arm. A second case of instability was observed with a rearrangement resulting from a presumed de novo 8;21 translocation. Three JT cell lines were observed. They consisted of a deleted 8p chromosome, a dicentric 8;21 translocation, and an 8q isochromosome. The instability regions appeared to be at the pericentromeric region of chromosome 8 and the satellite region of chromosome 21. Both cases proved to be de novo events. The unstable nature of the JT resulting in chromosomal imbalance most likely contributed to the fetal loss. It appears that JT events may predispose to chromosomal imbalance via nondisjunction and chromosomal rearrangement and, therefore, may be an unrecognized cause of fetal loss.</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/10.1159/000015478","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21622638","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 WDR7 (alias TRAG, TGF-beta resistance associated gene) to orthologous regions of human chromosome 18q21.1-->q22 and mouse chromosome 18D.1-E.3 by fluorescence in situ hybridization.","authors":"S Sanders,&nbsp;C L Keck-Waggoner,&nbsp;D B Zimonjic,&nbsp;N C Popescu,&nbsp;S S Thorgeirsson","doi":"10.1159/000015520","DOIUrl":"https://doi.org/10.1159/000015520","url":null,"abstract":"We have identified a new, large gene through its elevated expression in a TGF-ß resistant cell line, B5T. This line was derived from a TGF-ß sensitive rat liver epithelial line (RLE M13) following spontaneous transformation by repeated passaging. We have named the gene TRAG (TGF-ß resistance associated gene), but it has also been given the official symbol WDR7 (WD Repeat 7) due to the presence of two WD repeat elements (Smith et al., 1999) by the Human Gene Nomenclature Committee. Both the gene and protein will therefore henceforth be known as WDR7/TRAG. The coding sequence is large (4,398 base pairs) and apparently unique, as it does not match any known genes or gene products present in currently available databases. Limited amino acid homology exists between WDR7/TRAG protein and a putative Drosophila G-protein subunit (GenBank Accession Number AL021086). A cDNA clone from human brain does exist which shows high nucleotide homology with WDR7/TRAG (F87%; KIAA0541, GenBank Accession Number AB011113), but this clone has not been characterized or further investigated beyond its reporting (Nagase et al., 1998). WDR7/TRAG protein has been demonstrated to be greatly elevated in numerous malignant, transformed cell lines from both human and rat, and shows a striking correlation with both TGF-ß resistance and metastatic potential. High levels of WDR7/TRAG were also observed in primary mouse tumors from TGF-ß/c-myc transgenic mice (Sanders et al., manuscript in preparation). Using FISH analysis, WDR7/TRAG was localized to orthologous regions on mouse (18D.1–E.3) and human (18q21.1→q22) chromosomes. This region in humans, the long arm of chromosome 18, encompasses a number of important genes linked to the process of tumorigenesis, particularly that of colon and pancreatic cancer (Cho and Vogelstein, 1992; Hahn et al., 1996). The DCC (deleted in colon cancer), MADH4 (alias DPC4 deleted in pancreatic cancer, also known as SMAD4), and BCL2 genes all lie on 18q and have all been shown to play a role in a variety of cancers (Tsujimoto et al., 1985; Hedrick et al., 1994; Hahn et al., 1996). Loss or translocation of 18q is a prevalent chromosomal aberration found in a subset of human cancers (Jen et al., 1994). It remains to be demonstrated whether any relationship exists between WDR7/TRAG overexpression and 18q loss in the primary tumors and tumor cell lines examined thus far. Further characterization and determination of WDR7/TRAG function is currently underway.","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/10.1159/000015520","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673119","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 human postmeiotic segregation increased (S. cerevisiae) 1 (PMS1) to chromosome 2q31.1 by radiation hybrid mapping.","authors":"M A Alvarez Soria,&nbsp;J Justesen,&nbsp;L L Hansen","doi":"10.1159/000015546","DOIUrl":"https://doi.org/10.1159/000015546","url":null,"abstract":"The human PMS1 gene encodes the prokaryotic mutL homolog implicated in DNA damage repair and homologous recombination. The PMS1 cDNA was isolated and characterized by Nicolaides et al. (1994) and the 5) region by Yanagisawa et al. (1998). The promotor region had multiple splice and transcriptional start sites. PMS1 forms a complex with MSH2 and MLH1 during initiation of mismatch repair of simple repetitive sequences (Prolla et al., 1994). Mutations in one of these components leads to a 100–700 fold increase in instability of the repetitive sequences (Strand et al., 1993). Mutations in PMS1 have been found in hereditary non-polyposis colon cancer (HNPCC) (Nicolaides et al., 1994). PMS1 was initially localized to chromosome 2 by somatic cell hybrids (Papadopulous et al., 1994) and later to 2q31→q33 by FISH (Nicolaides et al., 1994).","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/10.1159/000015546","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673935","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}