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  • 1
    Electronic Resource
    Electronic Resource
    Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11 (1991)
    s.l. : American Chemical Society
    Biochemistry 30 (1991), S. 1350-1357 
    Details
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/bi00219a027
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  • 2
    Electronic Resource
    Electronic Resource
    Search for putative suppressor genes in meningioma: significance of chromosome 22 (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 579-582 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cytogenetic and molecular studies of various solid tumors have indicated that a series of different chromosomal regions may be deleted in the tumor genome. Usually, losses of heterozygosity are observed and, from this finding, the presence of specific genes acting as tumor suppressors has been deduced. In particular tumors, however, only a single chromosome site appears to be affected. Therefore, we have carried out a study of human meningioma, investigating 7 such putative suppressor regions by applying twelve site-specific DNA markers. In 6 out of 19 tumors, we exclusively found loss of heterozygosity for markers of the long arm of chromosome 22; none of the tumors showed statistically significant additional allelic losses for the regions 1p, 3p, 5p, 5q, 11p, 13q, 17p. Our data support the long-standing observation that only losses of or within chromosome 22 are associated with the development of meningiomas. Other suppressor regions are apparently not involved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219348
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  • 3
    Electronic Resource
    Electronic Resource
    A non-alphoid repetitive DNA sequence from human chromosome 21 (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 519-523 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A non-alphoid repetitive DNA from human chromosome 22, consisting of a 48-bp motif, shows homology to both G-group chromosomes in the gorilla, thus indicating the presence of additional repeat family members on further human chromosomes. Therefore, we screened a chromosome-21-specific cosmid library using this repetitive sequence from chromosome 22 (D22Z3). Some 40–50 cosmid clones were positive in tests for hybridization. One of the clones giving the strongest signals was digested with EcoRI/PstI, which we knew to cut frequently within the repeats; this resulted in fragments containing repeat units only. The fragments were subcloned into plasmid vector pTZ 19. Sequence-analysis of a 500-bp insert showed ten copies of a 48-bp repeat similar to D22Z3, with about 15% sequence deviation from the chromosome 22 consensus sequence. In situ hybridization of the newly isolated recombinant established its chromosome 21 specifity at high stringency. Physical mapping by pulsed field gel electrophoresis placed this new repeat in close vicinity to the chromosome 21 alphoid repeat. No cross-hybridization with other mammalian genomes except for those of apes was observed. The locus has been designated D21Z2 by the Genome Data Base. A gel mobility shift assay indicated that this repetitive motif has protein-binding properties.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219177
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  • 4
    Electronic Resource
    Electronic Resource
    Cloning of contiguous genomic fragments from human chromosome 21 harbouring three trefoil peptide genes (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 233-235 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated from breast cancer cells (MCF7). Its oestrogen-inducible gene, and the human homologue to the porcine spasmolytic peptide gene (hSP/SML1) appear synchronously expressed in healthy stomach mucosa and several carcinomas of the gastrointestinal tract. Both genes were shown to be localised at 21q22.3. A new trefoil peptide from human intestinal mucosa (hITF/hP1.B) and its gene were described recently. By using suitable oligonucleotide primers and PCR and isolating large (110–250 kb) genomic recombinants cloned in the bacterial artificial chromosome (BAC) system, we present a genomic region from chromosome band 21q22.3 cloned in contiguous sequences and encoding all three members of human P-domain/trefoil peptides proving a physical linkage of all three trefoil peptide genes. Such genomic sequences will provide useful experimental material for analysis of gene regulation, for gene modification experiments and for establishing transgenic cells or animals.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050198
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  • 5
    Electronic Resource
    Electronic Resource
    Assignment of the gene for human spasmolytic protein (hSP/SML1) to chromosome 21 (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 681-682 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A human cDNA corresponding to the porcine pancreatic spasmolytic protein (PSP) was isolated, and the recombinant clone was originally termed hSP for human spasmolytic protein. Later, the term SML1 for spasmolysin was suggested for the human gene. This protein shows a remarkable sequence homology to pS2, a protein coded by an estrogen-induced gene isolated from the breast carcinoma cell line MCF-7. Although, at the DNA level, the gene sequences pS2 and hSP/SML1 display insufficient homology for cross-hybridization, their expression in tumor cells occurs with remarkable coordination. The human pS2 gene sequence has been assigned to chromosome 21, and we have therefore attempted to map the hSP/SMLl gene by using cDNA and Southern blotting of genomic DNAs from a panel of human-rodent somatic cell hybrids carrying different complements of human chromosomes. Interestingly, the hSP/SMLl gene is also localized on chromosome 21.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00221962
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  • 6
    Electronic Resource
    Electronic Resource
    The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 247-250 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The incidence of phenylketonuria (PKU) in the western part of Poland is 1 in 5000 live births. Restriction fragment length polymorphism (RFLP) haplotypes at the phenylalanine hydroxylase locus have been analysed in 46 Polish families with PKU. Among 43 fully-informative families 16 RFLP haplotypes were identified. Haplotype 2 is the most frequently (62%) associated with Polish PKU alleles, and the codon 408 mutation is in complete linkage disequilibrium with this haplotype in Poland. This finding is in agreement with observations in other eastern European countries (German Democratic Republic, Czechoslovakia, and Hungary) and in contrast to the genotype distribution observed in western European countries. The present observation suggests the spread of classical PKU, due to the codon 408 mutation associated with haplotype 2, from east to west in European populations. Perhaps more important for genetic counselling, 62% of all PKU chromosomes in the Polish population can now be detected using only one mutantspecific oligonucleotide probe.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202402
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  • 7
    Electronic Resource
    Electronic Resource
    Arrangement of the rRNA sequences in the rDNA of Lytechinus variegatus (1978)
    Springer
    Chromosoma 65 (1978), S. 373-381 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The arrangement of the 26S RNA and 18S RNA sequences of the ribosomal DNA (rDNA) from the sea urchin Lytechinus variegatus was investigated by an electron microscopic analysis of R-loops formed between the ribosomal RNA genes and the mature ribosomal RNAs. Ninety-eight percent of observed molecules contained R-loops clearly seen as a three-stranded complex. The size of DNA complementary to mature cytoplasmic 18S and 26S ribosomal RNA (rRNA) was calculated by measuring the double-strand (ds) and single-strand (ss) part of the R-loops separately. The values for the 18S R-loop are 1.75±0.24 kb1 (ss) and 1.56±0.23 kb (ds). The 26S R-loop is 3.34±0.39 kb (ss) and 3.33±0.33 kb (ds). These measurements agree fairly well with the rRNA sizes measured on denaturing sucrose density gradients: 3.23±0.22 kb for the 26S and 1.93±0.10 kb for 18S. The short spacer between the 18S and 26S R-loops is 1.03±0.24 kb and the longer spacer is 5.36±0.53 kb. In long molecules a repeating pattern was observed. The average length of an rDNA repeat unit is 11.33±0.64 kb when computed using double-strand R-loop measurements and 11.50±0.72 when computed using R-loop single-strand lengths.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286416
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  • 8
    Electronic Resource
    Electronic Resource
    Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma (1997)
    [s.l.] : Nature Publishing Group
    Nature genetics 15 (1997), S. 95-98 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Our previous fluorescent in situ hybridization (FISH) studies showed that the DP breakpoint on ring chromosomes 22 was telomeric to the LIF gene2 which is located on 22ql2 (ref. 9). We utilized the DP tumour T94796, which contains the t(17;22)(q22;q!3) translocation3, to clone the breakpoint. The ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0197-95
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  • 9
    Electronic Resource
    Electronic Resource
    Isolation and some properties of a mammalian ribosomal DNA (1976)
    Springer
    Chromosoma 58 (1976), S. 41-50 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The DNA coding for 28 S and 18 S ribosomal RNA, including the spacer regions, has been isolated from calf (Bos taurus) thymus gland. The method used included shearing of the total DNA to a highly homogeneous size population, selective heat denaturation and S 1 nuclease treatment to remove single stranded DNA. Repeated centrifugation on density gradients yields a 140-fold purified rDNA fraction with a GC content of 61.2%. Eco RI nuclease cleaves this DNA into two fragments of 16.4 and 4.9×106 daltons. Hybridization of these fragments with 28 S and 18 S rRNA shows that the 28 S coding sequence is located mostly on the 4.9×106 dalton fragment, while both the 16.4 and 4.9×106 dalton fragments contain the 18 S sequence. The data indicate that the ribosomal RNA gene has a repeat unit of 21.3×106 daltons which includes a nontranscribed spacer of about 12.5×106 daltons.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293439
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  • 10
    Electronic Resource
    Electronic Resource
    A denaturation map of sea urchin ribosomal DNA (1976)
    Springer
    Chromosoma 58 (1976), S. 247-253 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The ribosomal RNA genes from the sea urchin Lytechinus variegatus have been studied with the electron microscope using the technique of denaturation mapping. A repeating pattern of denatured regions was found with an average repeat length of 3.87±0.24μm. This corresponds to a DNA sequence of approximately 12,000 base pairs with a molecular weight of 8×106 daltons.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292090
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