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  • 1
    Electronic Resource
    Electronic Resource
    Hypermutable myotonic dystrophy CTG repeats in transgenic mice (1997)
    [s.l.] : Nature Publishing Group
    Nature genetics 15 (1997), S. 193-196 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] To generate a mouse model for unstable DNA we injected the Dmtl62 construct derived from the human myotonic dystrophy locus (Fig. 1a) into fertilized mouse eggs but at a concentration lower than traditionally used to optimize for single copy integrants. Five transgene positive founder mice were ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0297-193
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  • 2
    Electronic Resource
    Electronic Resource
    Oncogenes and linkage groups: Conservation during mammalian chromosome evolution (1985)
    Springer
    Chromosoma 92 (1985), S. 156-163 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Proto-oncogenes, which represent the cellular progenitors of the transforming genes harbored by acute transforming oncogenic retroviruses, have been highly conserved during vertebrate evolution. In this report, we have assigned experimentally a subset of proto-oncogenes (SRC, ABL, FES, and FMS — all related to the SRC family) to Chinese hamster chromosomes by Southern filter hybridization analyses of DNAs isolated from both somatic cell hybrids and flow-sorted hamster chromosomes. These results demonstrate that several autosomal linkage groups containing proto-oncogenes originated prior to the radiation and speciation of mammals and have remained remarkably stable for nearly 80 million years.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00328468
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  • 3
    Electronic Resource
    Electronic Resource
    The reduction of aromatic alpha-keto acids by cytoplasmic malate dehydrogenase and lactate dehydrogenase (1987)
    Springer
    Biochemical genetics 25 (1987), S. 657-669 
    Details
    ISSN: 1573-4927
    Keywords: malate dehydrogenase ; alpha-keto acid reductase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract This study demonstrates that cytoplasmic malate dehydrogenase (MDH-s) catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH, that the enzyme which has been described in the literature as aromatic alpha-keto acid reductase (KAR; EC 1.1.1.96) is identical to MDH-s, and that the reduction of aromatic alpha-keto acids is due predominantly to a previously unrecognized secondary activity of MDH-s and the remainder is due to the previously recognized activity of lactate dehydrogenase (LDH) toward aromatic keto-acids. MDH-s and KAR have the same molecular weight, subunit structure, and tissue distribution. Starch gel electrophoresis followed by histochemical staining using eitherp-hydroxyphenylpyruvic acid (HPPA) or malate as the substrate shows that KAR activity comigrates with MDH-s in all species studied except some marine species. Inhibition with malate, the end product of the MDH reaction, substantially reduces or totally eliminates KAR activity. Genetically determined electrophoretic variants of MDH-s seen in the fresh water bony fish of the genusXiphophorus and the amphibianRana pipiens exhibited identical variation for KAR, and the two traits cosegregated in the offspring from oneR. pipiens heterozygote studied. Both enzymes comigrate with no electrophoretic variation among several inbred strains of mice. Antisera raised against purified chicken MDH-s totally inhibited both MDH-s and KAR activity in chicken liver homogenates. There is no evidence to suggest that any protein besides MDH-s and LDH catalyzes this reaction with the possible exception of the situation inXiphophorus, in which a third independent zone of HPPA reduction is observed. In most species the activity formerly described as KAR appears to be due to a previously unsuspected activity of MDH-s toward aromatic monocarboxylic alpha-keto acids. In all species examined the KAR activity is associated only with MDH-s; in tissue homogenates the mitochondrial form of MDH (MDH-m) is not detected after electrophoresis using HPPA as a substrate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00556210
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  • 4
    Electronic Resource
    Electronic Resource
    Linkage group IV of fish of the genus Xiphophorus (Poeciliidae): Assignment of loci coding for pyruvate kinase-1, glucosephosphate isomerase-1, and isocitrate dehydrogenase-1 (1982)
    Springer
    Biochemical genetics 20 (1982), S. 505-518 
    Details
    ISSN: 1573-4927
    Keywords: linkage ; fish genetics ; isozymes ; electrophoresis ; Xiphophorus ; gene mapping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Electrophoretic variation ascribable to three enzyme loci, coding for a pyruvate kinase (PK1), a glucose phosphate isomerase (GPI1), and an isocitrate dehydrogenase (IDH1), was observed in three species of fish of the genus Xiphophorus. Electrophoretic patterns in F1 hybrid heterozygotes confirmed the dimeric structures of GPI and IDH, and indicated a multimeric structure for pyruvate kinase. Variant alleles at the three loci exhibited normal Mendelian segregation in backcross hybrids. Linkage analyses indicate a gene order and estimated recombination of PK1—10%—GPI1—41%—IDH1. No significant interference or sex- or population-specific recombination difference was detected. This group (designated linkage group IV) was shown to assort independently from the nine loci comprising linkage groups I, II, and III and from 23 other informative markers, within the limits of the data. No conclusions with respect to homology of linkage relationships could be reached, due to the presence of presumably duplicated loci in these fish coding for isozymes whose homology with enzymes in other vertebrate species is as yet unestablished.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00484701
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  • 5
    Electronic Resource
    Electronic Resource
    Linkage group VI of fish of the genus Xiphophorus (Poeciliidae): Assignment of genes coding for glutamine synthetase, uridine monophosphate kinase, and transferrin (1983)
    Springer
    Biochemical genetics 21 (1983), S. 1041-1049 
    Details
    ISSN: 1573-4927
    Keywords: glutamine synthetase ; uridine monophosphate kinase ; transferrin ; Xiphophorus ; gene mapping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Electrophoretic variation ascribable to three protein-coding loci, coding for glutamine synthetase (GS), uridine monophosphate kinase (UMPK), and transferrin (Tf), was observed in three species of fish of the genus Xiphophorus. Electrophoretic patterns in interspecific F1 hybrid heterozygotes suggested monomeric subunit structures of UMPK and Tf and a multimeric structure of undetermined subunit number of GS. Linkage analyses in backcross hybrids indicated a recombination map of GS-0%-Tf-10.8%-UMPK. This group (designated Xiphophorus linkage group VI) was shown to assort independently from the 14 enzyme loci assigned to linkage groups I–V and from 19 other informative markers within the limits of the data.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00483958
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  • 6
    Electronic Resource
    Electronic Resource
    Functional hemizygosity for theMDH2 locus in chinese hamster ovary cells (1986)
    Springer
    Somatic cell and molecular genetics 12 (1986), S. 111-119 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Isolation of electrophoretic mobility shift mutants for a large number of enzyme loci in CHO cells has allowed the identification of many genes which are functionally hemizygous. To gain further insight into the nature of hemizygosity in CHO cells and the mechanisms by which it has arisen, we are attempting to determine whether hemizygous gene loci are clustered in a few localized chromosomal regions in CHO or are more generally distributed throughout the genome. Isozyme analysis of a series of CHO electrophoretic mobility shift mutants for MDH2 (malate dehydrogenase 2, EC 1.1.1.37) revealed that this locus is functionally hemizygous in CHO cells, but the locus could not be mapped by conventional approaches because of the similar electrophoretic mobilities of Chinese hamster and mouse MDH2 isozymes. Construction of intraspecific CHO x CHO hybrids using electrophoretic mobility shift mutants with secondary, selectable drug-resistance markers allowed us to determine that MDH2 is not closely linked to any previously mapped hemizygous marker loci in CHO, but is linked to allelesfor two dizygous gene loci, PGM3 and APRT, on CHO chromosome Z7. A possible genetic basis for hemizygosity of the MDH2 locus in CHO cells is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01560658
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  • 7
    Electronic Resource
    Electronic Resource
    Hypomethylation andADA gene expression in mouse CAK cells (1989)
    Springer
    Somatic cell and molecular genetics 15 (1989), S. 1-11 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The adenosine deaminase (ADA)locus appears to be under complex transcriptional control since levels of ADA enzyme activity vary greatly between different tissues and stages of development. Evidence that a trans-acting factor may be involved with the regulation of this locus came from previous experiments where fusion of ADA-negative human JEG cells and mouse ADA-positive cells led to the trans-activation of human ADAin a hybrid nucleus. Here, we demonstrate that the near euploid mouse embryo fibroblast cell line, CAK, also lacks detectable ADA enzyme activity due to altered gene regulation. We further demonstrate that ADAin CAK cells is not amenable to activation by somatic cell fusion. Following treatment with 5-azacytidine and Xyl-A selection (for ADA),however, CAK clones were obtained that stably express the ADAgene. Molecular analysis of the parental CAK cells and the ADA-positive derivative clones demonstrated that both 5′ and 3′ regions of the ADAgene had become hypomethylated in the ADAM + clones. We conclude that methylation is another element involved with the transcriptional control of the ADAgene and that ADAmight serve as a useful model for studying the interaction of cis-and trans-acting regulational elements.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01534664
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  • 8
    Electronic Resource
    Electronic Resource
    Spontaneous CHOAPRT heterozygotes reflect high-frequency, allele-specific deletion of the chromosome Z4APRT gene (1989)
    Springer
    Somatic cell and molecular genetics 15 (1989), S. 535-544 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In Chinese hamster ovary (CHO) cells, heterozygotes for the adenine phosphoribo-syltransferase(APRT) locus arise spontaneously at high frequencies. Paradoxically, such heterozygotes yield APRT}-mutants only at much lower spontaneous rates, suggesting that the high-frequency event may occur at only one of the twoAPRT genes. In an attempt to understand the genetic basis for the apparent refractivity of one of theAPRT alleles to the high-frequency genetic event and to determine whether differences in the genomic environments of the two CHOAPRT alleles specifically render one gene more susceptible to high-frequency spontaneous deletion or inactivation, we have mapped the wild-typeAPRT allele in 16 independently derived spontaneousAPRT heterozygotes. In 15 of these 16 heterozygotes, the functional, wild-typeAPRT gene was found to reside on the Z7 chromosome, indicating that the high-frequency event is indeed highly specific for the Z4APRT allele. All but one of these heterozygotes were hemizygous for theAPRT locus, suggesting that the high-frequency event generally involves deletion rather than spontaneous inactivation or mutation of the Z4APRT allele.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01534914
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  • 9
    Electronic Resource
    Electronic Resource
    Provisional assignment ofMPI, PKM2, PGM3, andME1 to Chinese hamster chromosome 4 (1984)
    Springer
    Somatic cell and molecular genetics 10 (1984), S. 109-111 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Concordant segregation analysis of Chinese hamster (Cricetulus griseus) isozymes and chromosomes segregating from hamster X mouse interspecific somatic cell hybrids revealed that loci for ME1, PGM3, MPI, and PKM2 are located on Chinese hamster chromosome 4. Synteny of these loci in hamsters provides additional evidence for the conservation of mammalian autosomal linkage groups.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01534478
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  • 10
    Electronic Resource
    Electronic Resource
    Efficiency and limitations of the hn-cDNA library approach for the isolation of human transcribed genes from hybrid cells (1992)
    Springer
    Somatic cell and molecular genetics 18 (1992), S. 7-18 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The use of splice donor site consensus sequences as primers in cDNA synthesis (to make a cDNA library from heterogeneous RNA or unprocessed transcript—an hn-cDNA library) and the screening of such an hn-cDNA library with human repeat DNA probe in order to isolate human genes from somatic cell hybrids have been demonstrated. Here, we optimize and evaluate the efficiency and limitations of the approach. Computer analysis of genomic sequences of 22 randomly selected human genes indicated that hexamers CTTACC, CTCACC, and CCTACC were most efficient at beginning first-strand cDNA synthesis at donor splice sites of hnRNA and suggested that the procedure is efficient for priming cDNA synthesis of at least one exon from most every gene. Primer extension experiments established conditions in which the primers would initiate synthesis of cDNA starting from a perfectly matched position on the RNA template at more than 60-fold higher yield than any other product. By isolation of a clone containing exon III of the human DNA repair gene ERCC1, we indicate that the approach is capable of cloning exons from weakly expressed genes. Sequencing of clones revealed a structure of hn-cDNA clones consistent with the expectations of the cloning strategy and indicated the potential of the clones in detecting polymorphisms. Finally, we demonstrate that the expression of these hn-cDNA sequences in cells can be detected efficiently at the hnRNA level by reverse transcriptase-polymerase chain reaction (RT/PCR).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01233445
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