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  • 1
    Electronic Resource
    Electronic Resource
    Heterozygosities and allelic frequencies of 358 dinucleotide-repeat marker loci in the Japanese population (1998)
    Springer
    Journal of human genetics 43 (1998), S. 165-168 
    Details
    ISSN: 1435-232X
    Keywords: Key words Microsatellite ; Heterozygosity ; Japanese ; population
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We examined 64 normal Japanese chromosomes to determine the heterozygosities and allelic frequencies of 358 dinucleotide-repeat marker loci spanning the whole human genome. Comparisons of the data for each marker in the Japanese population sample with data for the same markers among Caucasian samples in the Genome Database (GDB) revealed a slightly lower average of heterozygosity in Japanese (71% vs 79%). Although the majority of the markers were as informative as in Caucasians, some in our sample were uninformative due to low heterozygosity; 38 loci revealed heterozygosities lower than 50% and 11 of these were less than 30%. Furthermore, allelic distributions at many of the marker loci were quite different in the two racial groups. Since such differences will influence statistical analyses between markers and disease loci, our data will be essential for linkage analyses, sib-ship pair analyses, and association studies involving the Japanese population. Therefore we have archived this database on a home page on the Internet (http://www.ims.u-tokyo.ac.jp/nakamura/Yamane.html).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050062
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  • 2
    Electronic Resource
    Electronic Resource
    Genetic uncoupling of the dsRNA-binding and RNA cleavage activities of the Escherichia coli endoribonuclease RNase III — the effect of dsRNA binding on gene expression (1998)
    Oxford BSL : Blackwell Science Ltd, UK
    Molecular microbiology 28 (1998), S. 0 
    Details
    ISSN: 1365-2958
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: RNase III, a double-stranded RNA-specific endonuclease, is proposed to be one of Escherichia coli 's global regulators because of its ability to affect the expression of a large number of unrelated genes by influencing post-transcriptional control of mRNA stability or mRNA translational efficiency. Here, we describe the phenotypes of bacteria carrying point mutations in rnc, the gene encoding RNase III. The substrate recognition and RNA-processing properties of mutant proteins were analysed in vivo by measuring expression from known RNase III-modulated genes and in vitro from the proteins' binding and cleavage activities on known double-stranded RNA substrates. Our results show that although the point mutation rnc70 exhibited all the usual rnc null-like phenotypes, unlike other mutations, it was dominant over the wild-type allele. Multicopy expression of rnc70 could suppress a lethal phenotype of the wild-type rnc allele in a certain genetic background; it could also inhibit the RNase III-mediated activation of λN gene translation by competing for the RNA-binding site of the wild-type endonuclease. The mutant protein failed to cleave the standard RNase III substrates in vitro but exhibited an affinity for double-stranded RNA when passed through poly(rI):poly(rC) columns. Filter binding and gel-shift assays with purified Rnc70 showed that the mutant protein binds to known RNase III mRNA substrates in a site-specific manner. In vitro processing reactions with purified enzyme and labelled RNA showed that the in vivo dominant effect of the mutant enzyme over the wild-type was not necessarily caused by formation of mixed dimers. Thus, the rnc70 mutation generates a mutant RNase III with impaired endonucleolytic activity but without blocking its ability to recognize and bind double-stranded RNA substrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2958.1998.00828.x
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  • 3
    Electronic Resource
    Electronic Resource
    Influence of truth disclosure on quality of life in cancer patients (1998)
    Springer
    International journal of clinical oncology 3 (1998), S. 386-391 
    Details
    ISSN: 1437-7772
    Keywords: Cancer ; Truth disclosure ; Incurability ; FLIC ; Quality of life ; Palliative care
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background Whether truth disclosure may harm patients may be critical for the promotion of truth disclosure in patients with cancer. We used the Functional Living Index-Cancer (FLIC) to study the influence of truth disclosure on quality of life (QOL) in cancer patients. Methods. Twenty-three truth-disclosed patients with cancer (TD group) and 21 truth-concealed patients (TC group) were asked to answer 22 FLIC questions at the outpatient clinic. Results were compared with those in 18 patients with irritable bowel syndrome (IBS group) and in 37 patients with other gastrointestinal diseases (OGD group). Results. Average FLIC scores were the same in the TD and IBS groups and in the TC and OGD groups. There were significant differences among the four groups for four FLIC items: “Discouraged about life” (P = 0.04), “Uncomfortable today” (P = 0.03), “Pain disrupts activity”, (P = 0.0003) and “How much nausea” (P = 0.04). The IBS group had the worst FLIC scores for the former three of these items. Truth disclosure influenced only one FLIC item, in that the TD group was more likely to think that their daily activities were disrupted by pain or discomfort than the TC group (P = 0.01). However, incurability of cancer worsened the score for ten FLIC items, among which incurability was independently associated with the deterioration of FLIC-QOL in terms of “Family disruption” (P = 0.03) and “Cancer-related pain” (P = 0.02). Conclusion. Incurability of cancer, not truth disclosure, negatively affects patients' QOL. Thus, if sufficient supportive care is provided particularly to patients with incurable cancer, the truth could be disclosed without fear of being cruel or harming patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00539218
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  • 4
    Electronic Resource
    Electronic Resource
    Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 168-172 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary disease characterized by hamartomatous polyposis involving the entire bowel. Recently STK11, a gene bearing a mutation responsible for PJS, was isolated. We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those families. One nonsense mutation and five different frameshift mutations (two families carried the same mutation), all of which would cause truncation of the gene product, were found in seven families; mutations found in five families were clustered within exon 6. Among these five mutations, three occurred at the mononucleotide-repeat region (CCCCCC) of codons 279–281, suggesting that this region is likely to be a mutational hotspot of this gene. One of the remaining three families carried a 3-bp in-frame deletion that would eliminate an asparagine residue within a kinase domain of the product; the other two carried intronic mutations at or adjacent to the consensus dinucleotide sequences of splice-acceptor or -donor sites, which were likely to lead to aberrant splicing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050801
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  • 5
    Electronic Resource
    Electronic Resource
    Magnetic resonance signal intensity and volume changes after endovascular treatment of intracranial aneurysms causing mass effect (1998)
    Springer
    Neuroradiology 40 (1998), S. 184-188 
    Details
    ISSN: 1432-1920
    Keywords: Key words Aneurysm intracranial ; Magnetic resonance imaging ; Embolisation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To determine when and how intracranial aneurysms causing mass effect change following endovascular treatment, we used MRI to assess patients for 2–3 years after the interventional procedure. Nine patients who had aneurysms compressing the surrounding structures underwent endovascular treatment. Proximal occlusion of the parent artery was performed in seven cases, and in two the aneurysm was embolised with microcoils. After embolisation, signal intensity within aneurysms tended to be high on both T1- and T2-weighted images. When there was rapid reduction in size high-signal zones within aneurysms became isointense or gave low signal on T1-weighted images. On T2-weighted images, isointense or low-signal foci appeared within high-signal areas in the aneurysm, giving mixed intensity. In typical cases, the mean volume of the aneurysm fell to approximately 30 % of its initial value 2–12 months after treatment. After this, no additional reduction was observed. The aneurysms which showed little signal intensity change tended to shrink more slowly and to a lesser degree than the more typical cases. Aneurysms which gave high signal on both T1- and T2-weighted images early following embolisation shrank more quickly than those showing little signal change.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050565
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  • 6
    Electronic Resource
    Electronic Resource
    Agrobacterium-mediated transformation and plant regeneration from hypocotyl segments of Japanese persimmon (Diospyros kaki Thunb) (1998)
    Springer
    Plant cell reports 17 (1998), S. 435-440 
    Details
    ISSN: 1432-203X
    Keywords: Key wordsAgrobacterium ; Hypocotyl ; Japanese persimmon ; Transformation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Hypocotyl segments from the seeds of Japanese persimmon (Diospyros kaki Thunb) were cultured on a modified Murashige and Skoog medium supplemented with N-(2-chloro-4-pyridyl)-N′-phenylurea, zeatin or 6-benzylaminopurine. The highest frequency of shoot regeneration was observed when the segments were cultured on medium containing 2 mg/l of zeatin. This culture system was adapted to Agrobacterium-mediated transformation. The hypocotyl segments were inoculated with Agrobacterium tumefaciens strains harboring binary vectors, which contained the neomycin phosphotransferase II gene and the β-glucuronidase gene. Regenerated shoots were selected on a medium containing kanamycin. Histochemical GUS assay showed that the shoots regenerated from the segments inoculated with EHA101/pSMAK251 expressed the gus gene. The presence and integration of the gus gene was confirmed by polymerase chain reaction (PCR) and Southern blot analysis. The regeneration frequency of transformed shoot was 11.1%. The transgenic shoots were rooted and developed into whole plants within 4–5 months.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002990050421
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  • 7
    Electronic Resource
    Electronic Resource
    Identification of brain-specific splicing variants of the hDLG1 gene and altered splicing in neuroblastoma cell lines (1998)
    Springer
    Journal of human genetics 43 (1998), S. 123-127 
    Details
    ISSN: 1435-232X
    Keywords: Key words Splicing variants ; hDLG1 gene ; Neuroblastoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human homologue of Drosophila tumor suppressor dlg, hDLG1, is one of the proteins known to interact with APC, a tumor suppressor for colorectal cancer. Alternative splicing of this gene generates transcripts either with [insertion 1 (I1)] or without 99 nucleotides in the 5′ part of the dlg homology repeats (DHR) domain. We found almost equivalent expression of these two splicing variants in most human tissues; however, in skeletal muscle the transcript with the 99-bp insertion was predominant, and in the brain, that without the 99-bp insertion was expressed predominantly. We also examined alternative splicing in the region between the SH3 and GUK domains where two different sizes of insertions, 34 nucleotides (I2) or 100 nucleotides (I3), had been reported, and found various splicing patterns among the tissues examined. In brain we detected six different, alternatively spliced transcripts, two of which included a novel, 36-bp, brain-specific exon encoding a peptide bearing significant homology to a portion of rat synapse-associated protein, SAP97/PSD95. Subsequently, we investigated the splicing patterns of the hDLG1 gene in 24 neuroblastoma cell lines. In two-thirds of these lines, the splicing patterns were altered from those observed in normal brain tissue. As one-third retained the normal brain-splicing pattern, the loss of normal splicing of hDLG1 may not in itself cause formation of tumors, but it might reflect the biological character of individual neuroblastomas.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050052
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  • 8
    Electronic Resource
    Electronic Resource
    Genomic organization and mapping of the human activin receptor type IIB (hActR-IIB) gene (1998)
    Springer
    Journal of human genetics 43 (1998), S. 132-134 
    Details
    ISSN: 1435-232X
    Keywords: Key words Genomic structure ; Activin receptor ; Large-scale DNA sequencing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Activins, members of a family of proteins that includes transforming growth factor-beta (TGF-beta), are gonadal polypeptide hormones that stimulate secretion of follicle-stimulating hormone (FSH). During large-scale sequencing analysis of a 1.2-Mb fragment of human genomic DNA on 3p22–p21.3, we found the gene encoding activin receptor type IIB (hActR-IIB). Comparison of its reported cDNA sequence with this genomic sequence showed that the hActR-IIB gene consists of 11 exons and spans about 30 kb of genomic DNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050054
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  • 9
    Electronic Resource
    Electronic Resource
    Identification by differential display of eight known genes induced during in vivo intimal hyperplasia (1998)
    Springer
    Journal of human genetics 43 (1998), S. 9-13 
    Details
    ISSN: 1435-232X
    Keywords: Key words Intimal hyperplasia ; Differential display method ; Endothelial denudation ; RT-PCR ; Masson-Trichrome staining
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract To achieve a better understanding of the mechanism of intimal thickening, we used a rabbit model in which aorta was denuded mechanically by a balloon catheter. Total RNA was prepared from each aorta 1, 2, 7, 14, 23, or 30 days after denudation, and from intact aorta of nondenuded control rabbits. Subsequently, using the differential display method, we identified eight genes that were expressed differently during the time course after injury. One of them, RESP18 (encoding regulated endocrine secretory protein 18), was suppressed during the acute reaction. The other seven showed increases in expression during the acute phase: the genes for hTAFII68 (human TATA-binding protein associated factor), NPAT (nuclear protein mapped to the AT locus), OSF2 (osteoblast-specific factor 2), Pyst1, casein kinase 1α, integrin α1, and XP-C complementing protein. Although hTAFII68, NPAT, OSF2, and Pyst1 are thought to be related to transcription, not all four are positive regulators. Considering that none of these genes had previously been reported as being implicated in intimal hyperplasia, we conclude that many known or unknown genes play roles in this process. We believe that differential display is an effective method for screening genes whose variations in expression can provide clues toward understanding the molecular mechanism of intimal hyperplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050030
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  • 10
    Electronic Resource
    Electronic Resource
    VNTR (variable number of tandem repeat) sequences as transcriptional, translational, or functional regulators (1998)
    Springer
    Journal of human genetics 43 (1998), S. 149-152 
    Details
    ISSN: 1435-232X
    Keywords: Key words VNTR (variable number of tendem repeat) ; Transcriptional regulator ; Translational regulator ; Personality traits ; Disease susceptibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract VNTR (variable number of tandem repeat) markers, also called single-copy minisatellites, were originally isolated from human DNA as highly informative restriction fragment length polymorphisms for mapping purposes. Evidence has lately emerged that some VNTR sequences play significant roles in the regulation of transcription, and that some may also influence the translational efficiency or stability of mRNA, or modify the activity of proteins by altering their structure. Some apparent associations of VNTR sequences with personality traits or with susceptibility to diseases have strengthened the likelihood that these tandemly-repeated genomic elements are of physiological and biological importance. In this review, we summarize recent progress in efforts to clarify mechanisms involving VNTR sequences.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050059
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