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  • 1
    Electronic Resource
    Electronic Resource
    A molecular anatomical analysis of mosaic trisomy 16 (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 86-90 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A one-month-old child presenting with an aortic coarctation was found to have a left single transverse palmar crease and proportionate growth delay on physical examination, prompting a peripheral blood chromosome analysis. This showed a mosaic trisomy of chromosome 16, subsequently observed to decrease with the passage of time. As her phenotype was relatively benign, further analysis was performed to define more precisely the extent of her mosaicism given the supposedly lethal nature of the aneuploid cell line. Fluorescence in situ hybridisation and CA repeat polymorphism studies demonstrated the aneuploidy in multiple tissues, including the structurally affected aorta. Molecular analysis showed both maternal chromosomes 16 to be present in the trisomic cells, but maternal heterodisomy was not present in the diploid cells. Given the increasing number of individuals described with aneuploid mosaicism, we suggest that the study of multiple tissues is a necessary approach, the eventual goal being the appreciation of the relationship between the characteristics of a somatic mosaicism and the phenotype it imparts.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050165
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  • 2
    Electronic Resource
    Electronic Resource
    X chromosome imprinting in fragile×syndrome (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 590-594 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Laird et al. (1987) hypothesized that there are at least four cis-acting alleles or ‘chromosome states’ at Xq27 that increasingly delay replication at this chromosomal area resulting in its increasing fragility in vitro. When on the inactive×chromosome, the proposed third (‘mutated’) allele can permanently block reactivation of its cis Xq27 area as the chromosome passes through female meiosis. Males and some females who inherit such an ‘imprinted’ fragile×chromosome (the fourth proposed allele) will be clinically affected due to impaired transcription of genes in the ‘imprinted’ Xq27 area. To test this hypothesis, late replication reverse banding patterns at Xq27 were evaluated in cultured lymphoblastoid cell lines from 25 subjects. Our data suggest that DNA replication of the presumed ‘imprinted’ Xq27 region in affected fragile×patients is indeed later relative to Xq27 on the active×chromosome in other subjects. These results support in part Laird's hypothesis of chromosomal imprinting in fragile×syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193580
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  • 3
    Electronic Resource
    Electronic Resource
    Autoradiography may be Unreliable for Identifying Human Chromosomes (1969)
    [s.l.] : Nature Publishing Group
    Nature 221 (1969), S. 1114-1116 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] A review of the literature reveals that there is little conclusive evidence that DNA of homologous human chromosomes replicates synchronously. This means that final identification of morphologically similar chromosome pairs by autoradiography as well as the association of particular chromosomes ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/2211114a0
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  • 4
    Electronic Resource
    Electronic Resource
    Incomplete Dosage Compensation for Glucose-6-phosphate Dehydrogenase in Human Embryos and Newborns (1970)
    [s.l.] : Nature Publishing Group
    Nature 227 (1970), S. 496-498 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Fifteen different diploid fibroblast strains (Table 1) were maintained in continuous culture for approximately 3 months-in any case not past thirty-five subcultures--as described elsewhere. The techniques for determining sex chromatin, for preparing crude glucose-6-phosphate dehydrogenase (G6PD) ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/227496a0
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  • 5
    Electronic Resource
    Electronic Resource
    Metric system (1985)
    [s.l.] : Nature Publishing Group
    Nature 318 (1985), S. 596-596 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR-Having grown up in the United States and lived in Britain, as well as visiting and living in several metric lands, I think A.A. Berezin (Nature 317, 762; 1985) has missed the point of D.C. Jolly's rather sensible letter on the metric system. A measurement system must first of all be a means by ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/318596d0
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  • 6
    Electronic Resource
    Electronic Resource
    Research squeeze (1994)
    [s.l.] : Nature Publishing Group
    Nature 371 (1994), S. 194-194 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR - After thirty years in medical academia, I'm not baffled by the 54 per cent drop in National Institutes of Health (NIH) grants for young scientists over the past eight years (Nature 370, 87; 1994). When asked why he robbed banks, Willie Sutton replied: "Because that's where the money is". Now ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/371194b0
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  • 7
    Electronic Resource
    Electronic Resource
    Relaxation of imprinting in Prader-Willi syndrome (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 694-701 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We describe two Prader-Willi syndrome (PWS) patients who exhibit maternal uniparental disomy (UPD) of chromosome 15 and unusual patterns of gene expression and DNA replication. Both were diagnosed during infancy as having PWS; however, their growth and development were atypical compared with others with this condition. Weight was below normal in the first patient, and height and development were within normal limits in the second individual. Hyperphagia and polyphagia were not evident in either patient. Genotypes at multiple genomic loci, allele-specific methylation, gene expression, and DNA replication were analyzed at D15S9 [ZNF127], D15S63 [PW71], SNRPN, PAR5, IPW, and D15S10 in these patients. The maternal imprint (based on the absence of gene expression, synchronous replication, and methylation of both alleles) was retained at SNRPN in these patients, as is the case in others with UPD. By contrast, cells from the first individual expressed PAR5 and ZNF127, whereas the second expressed a single IPW allele. Asynchronous DNA replication was observed in both patients at all loci, except SNRPN. These findings show that a subset of imprinted genes can be transcribed in some PWS patients with maternal UPD and that asynchronous DNA replication is coordinated with this pattern of gene expression. Relaxed imprinting in these patients is consistent with their milder phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050893
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  • 8
    Electronic Resource
    Electronic Resource
    Genetic regulation of glucose 6-phosphate dehydrogenase activity in Drosophila melanogaster (1969)
    Springer
    Biochemical genetics 3 (1969), S. 359-370 
    Details
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Studies on two variants of X-linked enzyme, G6PD, in several inbred and outbred strains of Drosophila melanogaster suggest that (1) there is dosage compensation at this locus; (2) males have 20–33% more activity than females, due to enzyme-deficient eggs in the latter; (3) outcrossing Drosophila strains results in a significant rise in G6PD specific activity in such a way as to suggest the presence of two or more nonlinked loci specific in their effect on G6PD activity (the effect is twice as great in males as it is in females); (4) there is less “A” enzyme than “B” enzyme activity/mg protein in males, but they are equal in females; (5) the presence or absence of X-linked regulators for G6PD could not be ascertained.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00485720
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  • 9
    Electronic Resource
    Electronic Resource
    Glucose 6-phosphate dehydrogenase inDrosophila melanogaster: Starch gel electrophoretic variation due to molecular instability (1968)
    Springer
    Biochemical genetics 2 (1968), S. 159-175 
    Details
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Two starch gel electrophoretic variants of glucose 6-phosphate dehydrogenase (G6PD) in Drosophila melanogasterwere partially purified and characterized biochemically. The difference in their migration on starch gel is not due to a charge difference, but rather to a difference in molecular size due to instability of one of the variants. Crosses between the two variants did not produce offspring showing an intermediate electrophoretic band in the heterozygous female. That an hybrid molecule does exist in the heterozygous female, however, was demonstrated by taking advantage of differences in heat lability and structural stability of the two variants. Hence, we conclude that the G6PD locus in both X-chromosomes is active in each cell in female Drosophila.Our findings with DrosophilaG6PD emphasize the importance to protein variation and enzyme function of mutations leading to amino acid substitutions which do not produce a change in net charge.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01458714
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  • 10
    Electronic Resource
    Electronic Resource
    Variation of glucose 6-phosphate dehydrogenase in the HeLa and Detroit 98 cell lines and their clonal derivatives (1970)
    Springer
    Biochemical genetics 4 (1970), S. 25-40 
    Details
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Contrary to other reports, we have found that the “A” type G6PD found in two permanent cell lines—HeLa (Gey), with its single cell clonal derivative HeLa S3, and Detroit 98, with its four clonal derivative lines—is not a single variant but rather at least three different isozymes. One is heat stable with normal specific activity and normal “A” type electrophoretic migration, another is heat labile with normal specific activity and normal “A” type electrophoretic migration, and the third is heat labile with reduced specific activity and slightly slow “A” type electrophoretic migration. We also found that in a mosaic cell population with respect to G6PD phenotype, the predominant G6PD phenotype varied randomly over a 5-month period, that the G6PD phenotype might be mutable in permanent cell lines, and that spontaneous human cell lines might not be HeLa cell contaminants as has been suggested.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00484016
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