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  • Articles  (46)
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  • Articles  (46)
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  • 11
    Electronic Resource
    Electronic Resource
    Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation (2000)
    Springer
    Human genetics 〈Berlin〉 106 (2000), S. 277-287 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. An inv(11)(q13.5;q25) inversion was previously identified in a 9-month-old male patient with complex cyanotic heart defects, altered lung lobation, symmetric liver, and abnormally lobulated spleen (polysplenia). This chromosomal rearrangement was inherited from the phenotypically normal father. We termed these regions DHTX-A (disrupted in heterotaxy) –A at 11q13.5 and DHTX-B at 11q25. Here, we report the isolation and characterization of the inversion breakpoints and the gene that is disrupted by the DHTX-A breakpoint. The putative DHTX is identical to the UVRAG gene, which was originally identified as a gene that complements the UV sensitivity of xeroderma pigmentosum complementation group C. The 4-kb mRNA was found to be encoded by a large gene, at least 300 kb long, composed of 15 exons. The function of the gene product remains largely unknown. However, the near central portion of the UVRAG protein is predicted to contain a coiled-coil domain, which has been implicated in mediating protein-protein interactions. Southern analyses and fluorescence in situ hybridization (FISH) revealed that the DHTX-A breakpoint in the patient and his father lies within the intron between exons 6 and 7 of UVRAG. Northern blot analysis indicated strong expression in human fetal and adult tissues and in mouse embryonic day-7 and adult tissues, respectively. Whole mount in situ hybridization also showed that the Uvrag gene is expressed in the presomite-stage embryo. Several hypotheses are discussed to explain the relationship between the chromosomal inversion and the accompanying phenotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390000245
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  • 12
    Electronic Resource
    Electronic Resource
    Precise localization of the human gene encoding cell adhesion kinase β (CAKβ/PYK2) to chromosome 8 at p21.1 by fluorescence in situ hybridization (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 508-510 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cell adhesion kinase β (CAKβ) is the second protein-tyrosine kinase of the focal adhesion kinase subfamily with large N- and C-domains in addition to the central kinase domain. The cDNA of the human CAKβ has been cloned and used as a probe for the assignment of this gene by fluorescence in situ hybridization. CAKβ is sublocalized on chromosome 8p21.1, a locus frequently involved in allelic losses in colorectal cancers and prostate carcinomas.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050249
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  • 13
    Electronic Resource
    Electronic Resource
    Chromosomal location and structure of amplicons in two human cell lines with coamplification of c-myc and Ki-ras oncogenes (1993)
    Springer
    Somatic cell and molecular genetics 19 (1993), S. 21-28 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Gene amplification is a major mechanism through which oncogenes and genes responsible for drug resistance are overexpressed in neoplastic cells, and several models for structure of amplified units (amplicons) are postulated. In order to identify consistent changes associated with oncogene amplification, we analyzed chromosomal location and physical distance of amplicons of two independent human cell lines that have coamplified c-myc and Ki-ras oncogenes. In one cell line, KHC287, amplified c-myc genes were localized in two chromosomes and Ki-ras in three chromosomes. One marker chromosome was almost entirely encompassed by both amplified genes. In the other cell line, Lu-65, both of the amplified genes shared the same locus, on chromosome 12q+. The two genes, however, are more than 1500 kb apart in both cell lines. The above findings indicate that two different amplified genes became associated on one chromosome in two independent cell lines. This suggests that a common mechanism is associated with chromosomal rearrangements affecting different amplified genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01233951
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  • 14
    Electronic Resource
    Electronic Resource
    Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma (2000)
    Springer
    Journal of human genetics 45 (2000), S. 6-11 
    Details
    ISSN: 1435-232X
    Keywords: Key wordsELKS ; Fusion gene ; Break point ; Papillary thyroid carcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We recently isolated a novel cDNA, designated ELKS, that was fused to RET cDNA in a papillary thyroid carcinoma. Its encoded polypeptide sequence was rich in glutamic acid (E), leucine (L), lysine (K), and serine (S), and was characterized by the presence of nine alpha-helical coiled-coil domains consisting of periodic heptad repeats. We have now cloned the entire structure of the human ELKS gene from within a 700-kb genomic region represented by overlapping bacteriophage P1-derived artificial chromosome (PAC) and bacterial artificial chromosome (BAC) clones, and localized it to chromosomal band 12p13.3 by fluorescence in situ hybridization. The gene is approximately 500 kb long, with 19 exons and 18 introns; the transcription initiation site within exon 1 is separate from the initiation codon (in exon 2). Analysis of the exon/intron structure revealed that introns interrupt the coding sequence in such a way that many functional segments of the protein are encoded by distinct exons. Exon 1 encodes the 5′ non-coding region; exons 2, 3, 6, 7, 8, 9, 11, 14, and 15 encode the nine coiled-coil domains. Exons 17–19 constitute the 3′ non-coding region. Analysis of the region immediately upstream of exon 1 showed that it was extremely rich in G/C nucleotides and contained multiple Sp-1 and AP2 binding sequences. The ELKS-RET gene fusion rearrangement we had observed in a papillary thyroid carcinoma occurred between intron 10 of the ELKS gene and intron 11 of RET.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050002
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  • 15
    Electronic Resource
    Electronic Resource
    Genomic structure and chromosomal mapping of the human sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) gene (1999)
    Springer
    Journal of human genetics 44 (1999), S. 402-407 
    Details
    ISSN: 1435-232X
    Keywords: Key words SREBP cleavage-activating protein (SCAP) ; sterol regulatory element binding proteins (SREBPs)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) is a central regulator of lipid synthesis and uptake in mammalian cells. The entire genomic structure of the human SCAP gene was cloned in a 110-kb region covered by overlapping genomic clones. The SCAP gene was localized to chromosome 3p21.3 by fluorescence in situ hybridization. The human SCAP gene is over 30 kb in length and contains 23 exons and 22 introns. The transcription initiation site within exon 1 is separate from the initiation codon coded in exon 2. Analysis of exon/intron structure revealed that the gene consists of a mosaic of exons encoding functional protein domains. Exon 1 encodes the 5′ non-coding region. Exons 2, 3, 7, 8, 9, 10, 11, 13, and 15, respectively, encode each of the eight transmembrane regions. Of these, exons 7–11 encode the sterol-sensing domain. Exons 15–23 encode the hydrophilic carboxyl-terminal domains containing four copies of a motif called the Trp-Asp (WD) repeats that interact with and regulate SREBP and the site-1 protease. Sequence analysis of the 5′-flanking region showed that it comprised a high G/C-rich region and contained adipocyte determination and differentiation-dependent factor 1 (ADD1)/SREBP-1 binding sites in addition to Sp1 and AP2 sites. This suggests that SCAP gene expression is under the control of SREBP-1, a key regulator of the expression of genes essential for intracellular lipid metabolism. Our data establish the basis of investigation for molecular variants in this gene that may result in alterations in plasma lipoprotein levels and/or derangement of intracellular lipid metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050187
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  • 16
    Electronic Resource
    Electronic Resource
    Chromosomal imbalances in adult T-cell leukemia revealed by comparative genomic hybridization: gains at 14q32 and 2p16-22 in cell lines (1999)
    Springer
    Journal of human genetics 44 (1999), S. 357-363 
    Details
    ISSN: 1435-232X
    Keywords: Key words ATL ; CGH ; 14q32 ; TCL1 ; 2p ; HTLF
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Comparative genomic hybridization was used to identify chromosomal imbalances in eight cell lines and 12 blood samples from patients with adult T-cell leukemia/lymphoma (ATL). The chromosomes most often over-represented in the cell lines were 2p (6 cases), 7q (4 cases), and 14q (4 cases), with minimal common regions at 2p16-22, 7q21-36, and 14q32, respectively. Distinct imbalances were detected in only 7 of the clinical samples. Chromosomes 14q32 and 2p16-22 harbor TCL1 and a transcription factor, HTLF (human T-cell leukemia virus enhancer factor), respectively. FISH analysis revealed that TCL1 did not juxtapose to TCRA, and we detected no expression of TCL1 in any of the ATL cell lines despite the 14q32 amplifications. Moreover, expression of HTLF was not elevated in the ATL cell lines bearing multiplication of 2p. These results suggest that chromosomal regions 2p16-22 and 14q32 harbor genes other than HTLF and TCL1 that are involved in cellular immortalization or in the pathogenesis of ATL.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050178
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  • 17
    Electronic Resource
    Electronic Resource
    The human caspase-activated DNase gene (hCAD): genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus (1999)
    Springer
    Journal of human genetics 44 (1999), S. 408-411 
    Details
    ISSN: 1435-232X
    Keywords: Key words CAD (caspase-activated-DNase) ; Dinucleotide repeat ; SNPs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Caspase-activated DNase (CAD) cleaves chromosomal DNA during apoptosis. We determined its genomic structure and identified single-nucleotide polymorphisms (SNPs) within exons 5 and 7, as well as a highly polymorphic dinucleotide repeat of (CT)m(CA)n within the 5′ region of the human CAD gene (hCAD). The genomic structure of hCAD presented here, together with information concerning SNPs within the gene, as well as a highly polymorphic (CT)m(CA)n repeat fragment at the hCAD locus, may assist in the construction of genetic maps for exploring gene(s) that play pivotal roles in carcinogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050188
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  • 18
    Electronic Resource
    Electronic Resource
    Identification of amplified DNA sequences on double minute chromosomes in a leukemic cell line KY821 by means of spectral karyotyping and comparative genomic hybridization (1998)
    Springer
    Journal of human genetics 43 (1998), S. 187-190 
    Details
    ISSN: 1435-232X
    Keywords: Key words Leukemia cell line KY821 ; DNA amplification ; dmin ; CGH ; SKY
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Double minute chromosomes (dmin) are cytogenetic hallmarks of amplified genes. Using spectral karyotyping (SKY) and comparative genomic hybridization (CGH), we identified the origin of amplified DNA in a leukemic cell line, KY821, that harbors numerous dmin. The SKY revealed that the DNA sequences of dmin are derived from materials of chromosome 8, and CGH showed a high degree of overrepresentation only at 8q22–24, indicating that in KY821 only chromosomal material of 8q22–24, containing MYC, is amplified in dmin. An approach combining SKY with CGH should facilitate efforts to identify novel chromosomal regions of gene amplification and contribute information about genetic lesions that underly neoplastic tumors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050067
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  • 19
    Electronic Resource
    Electronic Resource
    Genomic structure and chromosomal mapping of the human Site-1 protease (S1P) gene (2000)
    Springer
    Journal of human genetics 45 (2000), S. 212-217 
    Details
    ISSN: 1435-232X
    Keywords: Key words Site-1 protease (S1P) ; Sterol regulatory element binding proteins (SREBPs)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the human S1P gene to chromosome 16q24 by fluorescent in situ hybridization and radiation-hybrid mapping, and determined its genomic structure. This gene is more than 60 kb long and contains 23 exons and 22 introns. Its transcription-initiation site within exon 1 is separate from the initiation codon in exon 2. Analysis of the exon/intron structure revealed that the S1P gene consists of a mosaic of functional units: exon 1 encodes the 5′ non-translated region; exon 2 encodes the NH2-terminal signal sequence; and exons 2 and 3 encode the pro-peptide sequence that is released when S1P is self-activated by intramolecular cleavage. Exons 5–10 encode the subtilisin-homology domain that is critical for catalytic activity, and exon 23 encodes the transmembrane region. Analysis of the putative promoter region revealed a highly G/C-rich region containing a binding site for ADD1/SREBP-1, as well as Sp1 and AP2 sites. Therefore, expression of the S1P gene may be under the control of SREBP-1, a key regulator of the expression of genes essential for intracellular lipid metabolism. Our data establish a basis for investigations to detect molecular variants in this gene that may alter levels of plasma lipoproteins and/or otherwise disrupt intracellular lipid metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070029
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  • 20
    Electronic Resource
    Electronic Resource
    Genomic structure and chromosomal localization of the gene encoding TRAX, a Translin-associated factor X (2000)
    Springer
    Journal of human genetics 45 (2000), S. 305-308 
    Details
    ISSN: 1435-232X
    Keywords: Key wordsTRAX ; Chromosome 1q41 ; Nuclear targeting motif ; Translin ; Leucine zipper ; Heteropolymer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The TRAX gene encodes a Translin-associated 33-kDa protein partner, TRAX. The TRAX protein has extensive amino acid homology with Translin, and contains bipartite nuclear targeting sequences, suggesting a possible role in the selective nuclear transport of Translin lacking any nuclear targeting motifs. In the present study, genomic clones of the human TRAX gene were isolated to determine the complete genomic organization. The genomic structure of the human TRAX gene was similar to that of the human Translin gene, consisting of six exons and five introns, encompassing approximately 27 kb in genomic DNA. Northern blot analysis revealed a predominant transcript of approximately 2.7 kb, and its distribution in various tissues was like that of Translin. Chromosomal mapping by fluorescence in situ hybridization (FISH) analysis allowed localization of the TRAX gene to human chromosome 1q41.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070022
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