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  • 1
    Electronic Resource
    Electronic Resource
    Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16 (1980)
    Springer
    Human genetics 〈Berlin〉 55 (1980), S. 375-381 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Twenty-three independent man-hamster (CH/HGPRT-) hybrids were analysed for human acid lipases and for some other human enzyme markers (PP, GOT 1, PGP) and chromosomes. Eighteen independent man-mouse (LA/HGPRT-TK−) hybrids were analysed for human acid lipases, human enzyme marker PGP and human chromosomes. Three fibroblasts from unrelated patients with WD (Wolman's disease), one fibroblast from a heterozygote for WD, and 15 normal fibroblasts were analysed for acid lipases. The following results were obtained: 1) A positive correlation was observed between acid lipase A and Chr. 10, and between acid lipase B and Chr. 16. In fact, among 23 independent man-hamster hybrids, 6 were Chr. 10+PP+GOT 1+LIP A+ and 17 were Chr. 10-PP-GOT 1-LIP A-, and among 41 independent man-rodent hybrids 23 were Chr. 16+ PGP+LIP B+ and 18 were Chr. 16-PGP-LIP B-. Except for Chr. 10, the other autosomes were observed in hybrids LIP A−, and except for Chr. 16, the other autosomes were observed in hybrids LIP B-. These results indicate that the gene for lipase A is on Chr. 10 and the gene for lipase B is on Chr. 16. 2) The acid lipase A is deficient in WD fibroblasts. Therefore the mutation responsible for WD is on Chr. 10. The B, C and at least three additional lipases were observed in WD fibroblasts and in WD heterozygote fibroblasts at pH 4.0 and with 4-methylumbelliferyl oleate as substrate. The relationship between these different acid lipases are obscure. In the normal fibroblasts from healthy control subjects a considerable variation in acid lipase A activity was observed. In some normal fibroblasts from healthy control subjects, in which the lipase A is reduced, we observed the same acid lipase zymogram pattern as in WD heterozygote fibroblasts.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00290221
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  • 2
    Electronic Resource
    Electronic Resource
    Human genes for glutathione S-transferases (1984)
    Springer
    Human genetics 〈Berlin〉 68 (1984), S. 221-227 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The tissue distribution of different glutathione S-transferases (GST) is analysed by electrophoresis. 1) The existence of GST“e” (erythrocyte), GST3, GST1, and GST2 is confirmed. GST“e” the fastest and most thermolabile of different GST analysed is observed only in erythrocyte cells. GST3 which migrates more slowly than GST“e” is present in all tissues and cells analysed, excepted for erythrocyte cells in which only GST“e” is observed. GST1 presents a polymorphism with four phenotypes 1, 1/2, 2, and 0 controlled by three alleles 1, 2, and 0 (null). With the sample of 56 livers analysed the different frequencies obtained are 9%, 5%, 43%, 43% for the phenotypes 1, 1/2, 2, and 0 respectively and 0.074 (p), 0.279 (q), 0.647 (r) for the alleles 1, 2, and 0 (null). GST2 presents variant patterns due probably, in the majority of cases, to post-synthetic modifications rather than allelic variation. 2) Two new GST are described, GST4 and GST5. GST4 abundant in muscle tissue is a dimeric protein. GST4 forms with GST1 a heterodimeric band. GST5 is observed in brain homogenates. 3) For the chromosome localization the results obtained by man (leucocytes)-mouse somatic cell hybrid analysis indicate that the gene for leucocytes GST is on chromosome 11. This gene is the structural GST3 gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00418392
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  • 3
    Electronic Resource
    Electronic Resource
    Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3 (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 389-392 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The platelet GPIIb-IIIa complex functions as a receptor for fibrinogen, fibronectin, and von Willebrand factor on activated platelets. This glycoprotein is a member of a broadly distributed family of structurally and immunologically related membrane receptors involved in cell-cell contact and cell-matrices interactions. GPIIb-IIIa is a heterodimer complex composed of GPIIb (the α subunit), which consists of two disulfide-linked heavy and light chains, and GPIIIa (the β subunit), which is a single polypeptide chain. Congenital absence of platelet GPIIb-IIIa in Glanzmann's thrombasthenia results in a severe bleeding disorder characterized by defective platelet aggregation and failure of fibrinogen to bind to platelets. The gene coding for GPIIb was located on 17q21.1-17q21.3 as determined by in situ hybridization with a 2650-pb GP2B (GPIIb) cDNA probe prepared from human megakaryocytes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273658
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  • 4
    Electronic Resource
    Electronic Resource
    Assignment of the human CD9 gene to chromosome 12 (region P13) by use of human specific DNA probes (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 268-272 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have used human specific DNA probes and somatic hybrid cell analysis to localize the human CD 9 gene to chromosome 12 (region p13).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202407
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  • 5
    Electronic Resource
    Electronic Resource
    Assignment of human tracheobronchial mucin gene(s) to 11p15 and a tracheobronchial mucin-related sequence to chromosome 13 (1990)
    Springer
    Human genetics 〈Berlin〉 86 (1990), S. 167-172 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Extensive heterogeneity of tracheobronchial mucin RNAs has been described recently. Based on the results of total or partial cDNA sequencing, the mucin cDNAs obtained were classified into three groups. The first group contained 24 bp tandem repeat sequences, the second exhibited homology at their amino- and carboxyl-terminals, and the third group seems to consist of alternative hydrophilic-hydrophobic zones. JER58, JER47 and JER57 probes, representing the first, second, and third tracheobronchial mucin families respectively, were used for chromosome assignment. In human DNAs digested with BamHI, the JER58 probe detected a sequence of 21 kb, the JER47 probe detected a major sequence of 21 kb and a minor sequence of 4 kb, and the JER57 probe detected two sequences of 1.8kb and 1.3kb. By somatic hybrid cell analysis, the JER58, JER47, and JER57 major sequences were assigned to chromosome 11 and the JER47 minor sequence to chromosome 13. By in situ hybridization the JER58, JER47 and JER57 probes were assigned to 11p15. Under the experimental conditions used, no specific hybridization to the chromosome 13 region was observed with the JER47 probe. Our results indicate that tracheobronchial mucin gene(s) is/are localized on 11p15. The minor JER47 BamHL sequnce localized on chromosome 13 probably corresponds to a tracheal-mucin related sequence. The intestinal mucin gene was also recently localized to the same 11p15 region. Intestinal and tracheobronchial mucins appear different according to their tissue distribution and their cDNA nucleotide sequences. Tracheal mucin probes (JER58, JER47, JER57) and intestinal probes may represent independent genes on 11p15 or else different mRNAs from the same primary transcript produced by differential splicing. Further studies using mucin genomic probes for 11p15 will be required for the elucidation of tracheal and intestinal mucin gene organisation in this region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197699
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  • 6
    Electronic Resource
    Electronic Resource
    Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13 (1988)
    Springer
    Human genetics 〈Berlin〉 78 (1988), S. 363-368 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary C1r and C1s are distinct, but structurally and functionally similar, serine protease zymogens responsible for the enzymatic activity of the first component of complement (C1). Recent comparisons indicate a significant degree of sequence similarity between C1r and C1s and support the hypothesis that they are related by gene duplication. Complementary DNA probes for human C1r and C1s do not cross-hybridize even at mild stringency conditions and are therefore genespecific. Using a panel of 25 human-rodent cell hybrids, we have independently assigned the C1r and the C1s genes to chromosome 12. In situ hybridization analyses were consistent with these assignments, showing in addition that both C1r and C1s are located on the short arm of the chromosome in the region p13. These data suggest that the homologous C1r and C1s genes have remained closely linked after duplication of a common ancestor. The C1r and C1s loci also provide useful polymorphic DNA markers for the short arm of chromosome 12.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291737
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  • 7
    Electronic Resource
    Electronic Resource
    Localization of the human oncogene SPI1 on chromosome 11, region p11.22 (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 542-546 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murine genomic DNA sequence located in the Spi1 5′ region and is known as a major SFFV integration site in murine erythroleukemia cells. Somatic hybrid cells enabled cDb1 and RaB2 to be assigned to chromosome 11. The murine C45a6B probe, which is not included in the Spi1 gene, detected a homologous sequence on human chromosome 11. RaB2 was assigned to 11p 11.22 by in situ hybridization. Three human genes known between 11p11 and 11p13 (FSHB, CAT, ACP2) were on murine chromosome 2. Therefore, the localization of human SPI1 on 11p11.22 was consistent with the assignment of the Spi1 oncogene to murine chromosome 2.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210807
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  • 8
    Electronic Resource
    Electronic Resource
    The human homologues of Fim1, Fim2/c-Fms, and Fim3, three retroviral integration regions involved in mouse myeloblastic leukemias, are respectively located on chromosomes 6p23, 5q33, and 3q27 (1989)
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 257-263 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three mouse genomic domains, Fim1, Fim2, and Fim3, were previously described as proviral integration regions frequently involved in the early stages of myeloblastic leukemogenesis induced in vivo or in vitro by the Friend murine leukemia virus. Fim2 was identified as the 5′ end of the c-Fms, protooncogene, which encodes the receptor of the macrophage colony stimulating factor (Csflr). The functions of Fim1 and Fim3 are not yet known, but these regions are highly conserved among different species. To examine whether these regions could correspond to known human loci involved in genetic alterations specific to some human leukemias, we undertook their chromosomal mapping. The localization of FIM2/c-FMS on 5q33 was confirmed. FIM1 and FIM3 were localized on human chromosomes 6p22.3–p23 and 3q27 respectively. Interestingly, translocations involving these two regions have been described in various hematopoietic malignancies: the t(6;9)(p23;q34) in acute nonlymphocytic leukemias and the 3q26–q28 translocations in a large variety of leukemias.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279000
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  • 9
    Electronic Resource
    Electronic Resource
    Localization of the active gene of aldolase on chromosome 16, and two aldolase A pseudogenes on chromosomes 3 and 10 (1988)
    Springer
    Human genetics 〈Berlin〉 78 (1988), S. 167-174 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Southern blot analysis of human genomic DNA hybridized with a coding region aldolase A cDNA probe (600 bases) revealed four restriction fragments with EcoRI restriction enzyme: 7.8 kb, 13 kb, 17 kb and 〉30 kb. By human-hamster hybrid analysis (Southern technique) the principal fragments, 7.8 kb, 13 kb, 〉30 kb, were localized to chromosomes 10, 16 and 3 respectively. The 17-kb fragment was very weak in intensity; it co-segregated with the 〉30-kb fragment and is probably localized on chromosome 3 with the 〉30-kb fragment. Analysis of a second aldolase A labelled probe protected against S1 nuclease digestion by RNAs from different hybrid cells, indicated the presence of aldolase A mRNAs in hybrid cells containing only chromosome 16. Under the stringency conditions used, the EcoRI sequences detected by the coding region aldolase A cDNA probe did not correspond to aldolase B or C. The 7.8-kb and 〉30-kb EcoRI sequences, localized respectively on chromosomes 10 and 3, correspond to aldolase A pseudogenes, the 13-kb EcoRI sequence localized on chromosome 16 corresponds to the aldolase active gene. The fact that the aldolase A gene and pseudogenes are located on three different chromosomes supports the hypothesis that the pseudogenes originated from aldolase A mRNAs, copied into DNA and integrated in unrelated chromosomal loci.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278190
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  • 10
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    Unknown
    THE NATURAL C14 CONTENTS OF MATERIALS FROM HARD-WATER LAKES (1954)
    National Academy of Sciences
    Details
    Publication Date: 1954-05-01
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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