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  • 1
    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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  • 2
    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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  • 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 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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  • 5
    Electronic Resource
    Electronic Resource
    The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19 (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 174-177 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We used a cloned human cDNA probe homologous to the placenta chorionic gonadotropin β subunit (CGB) and to the pituitary luteinizing hormone β subunit (LHB) and Southern blotting techniques to analyse DNA from a series of rodent x human somatic cell hybrids for the presence of specific gonadotropin β subunit related sequences. Our results provide evidence for the assignment and linkage of the eight genes (or pseudogenes) coding for the β subunit of these glycoprotein hormones to chromosome 19. Moreover, we observed a strict concordance between the permissivity of mouse x man hybrid cells to enteroviruses (which is linked to the presence of specific cell receptors encoded by human chromosome 19) and the presence of CGB and LHB related sequences, thus confirming the localization of the structural genes for the β subunits on chromosome 19.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272995
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