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  • 1
    Electronic Resource
    Electronic Resource
    Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids (1977)
    [s.l.] : Nature Publishing Group
    Nature 270 (1977), S. 64-66 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Children affected with the autosomal recessive ML n disorder show Hurler-like clinical features with growth and mental retardation and mucopolysaccharide and glycolipid storage culminating in death by age 2-6 yr (refs 1, 2). Cultured fibroblasts from ML II children show large numbers of cytoplasmic ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/270064a0
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  • 2
    Electronic Resource
    Electronic Resource
    Somatic cell genetic evidence for X-chromosome linkage of three enzymes in the mouse (1976)
    [s.l.] : Nature Publishing Group
    Nature 259 (1976), S. 665-667 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Evidence that these loci are X-linked in the laboratory mouse, M. musculus, comes from the observation that both X chromosomes are active in female germ cells and that gene dosage for these loci is doubled in oocytes of normal XX females as opposed to XO females. Activity measurements of G6PD11, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/259665a0
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  • 3
    Electronic Resource
    Electronic Resource
    Assignment of peptidase S (PEPS) to chromosome 4 in man using somatic cell hybrids (1978)
    Springer
    Human genetics 〈Berlin〉 43 (1978), S. 119-125 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A starch gel electrophoretic procedure is described that resolves peptidase S (PEPS) as well as the peptidases A, B, and C in man-rodent, rodent-rodent, and primate-rodent interspecific somatic cell hybrids. The interspecific PEPS cell hybrid phenotype can be resolved into a pattern which suggests that PEPS is composed of five or six identical subunits. Results are presented supporting assignment of the PEPS locus to chromosome 4 in man using man-mouse and man-Chinese hamster somatic cell hybrids. Human genes coding for peptidases A, B, C, and D were assigned to chromosome 18, 12, 1, and 19, respectively, confirming previous assignments. These somatic cell genetic data demonstrate the independent genetic control of the several human peptidases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293588
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  • 4
    Electronic Resource
    Electronic Resource
    Gene assignment of α-fucosidase and glucose dehydrogenase to the p21→pter region of chromosome 1 in man (1978)
    Springer
    Somatic cell and molecular genetics 4 (1978), S. 313-321 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Assignment of human genes coding for α-fucosidase (αFUC) and glucose dehydrogenase (GDH) to chromosome 1 has been confirmed and a location in the p21→pter region demonstrated using man-mouse somatic cell hybrids. The regional location af αFUC andGDH was established in cell hybrids using human cells possessing 1/2 translocation chromosomes [46,XX,t(1;2)(p21;q37)]. Hybrids which retained the 2q+ chromosome carrying the 1p21→1pter region concordantly expressed αFUC, GDH, and the short-arm markers ENO1, AK2, and PGM1. Hybrids which retained the 1p21→1qter region only expressed human PEPC and FH. Data obtained from hybrids in which spontaneous breaks in chromosome 1 had occurred indicate that the gene order in 1p21ar1pter is (ENO1,GDH)-αFUC-AK2-PGM1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01542845
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  • 5
    Electronic Resource
    Electronic Resource
    Genetics of cell fusion: Human chromosome 10 assignment of a gene(FUSE) that promotes polykaryocyte formation (1979)
    Springer
    Somatic cell and molecular genetics 5 (1979), S. 503-517 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract FUSE, a human gene which promotes polykaryocyte formation, has been identified and examined in cocultivation assays between rat XC cells and human-mouse hybrids retaining different combinations of human chromosomes. Polykaryocyte formation was never detected when parental cells of hybrids were cocultivated with XC cells. Somatic genetic synteny analysis employing different hybrid sets demonstrated thatFUSE was coexpressed with the chromosome 10 markers glutamate oxaloacetate transaminase (GOTs) and an external membrane protein (EMP-130). Cytogenetic analysis confirmed this assignment to human chromosome 10.FUSE was expressed by hybrids made with both human leukocytes and fibroblasts from several individuals, indicating the gene is found in different tissues and may be ubiquitous. Only XC cells were involved in polykaryocyte formation as demonstrated by 33258 Hoechst staining and the absence of heteropolymers between rat and cell hybrid multimeric enzymes. Evidence suggests that the geneFUSE produces a nondiffusible and noninfectious product that is associated with the human-mouse hybrid surface.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01538884
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  • 6
    Electronic Resource
    Electronic Resource
    Human β-glucuronidase: Assignment of the structural gene to chromosome 7 using somatic cell hybrids (1977)
    Springer
    Biochemical genetics 15 (1977), S. 367-382 
    Details
    ISSN: 1573-4927
    Keywords: human β-glucuronidase ; chromosome 7 structural gene assignment ; tetrameric structure ; lysosomal enzyme linkages ; cell hybrids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract β-Glucuronidase (GUS) has become an important enzyme model for the genetic study of molecular disease, enzyme realization, and therapy, and for the biogenesis and function of the lysosome and lysosomal enzymes. The genetics of human β-glucuronidase was investigated utilizing 188 primary man-mouse and man-Chinese hamster somatic cell hybrids segregating human chromosomes. Cell hybrids were derived from 16 different fusion experiments involving cells from ten different and unrelated individuals and six different rodent cell lines. The genetic relationship of GUS to 28 enzyme markers representing 19 linkage groups was determined, and chromosome studies on selected cell hybrids were performed. The evidence indicates that the β-glucuronidase gene is assigned to chromosome 7 in man. Comparative linkage data in man and mouse indicate that the structural gene GUS is located in a region on chromosome 7 that has remained conserved during evolution. Involvement of other chromosomes whose genes may be important in the final expression of GUS was not observed. A tetrameric structure of human β-glucuronidase was demonstrated by the formation of three heteropolymers migrating between the human and mouse molecular forms in chromosome 7 positive cell hybrids. Linkage of GUS to other lysosomal enzyme genes was investigated. β-Hexosaminidase HEX B) was assigned to chromosome 5; acid phosphatase2 (ACP 2) and esterase A4 (ES-A 4) were assigned to chromosome 11; HEX A was not linked to GUS; and α-galactosidase (α-GAL) was localized on the X chromosome. These assignments are consistent with previous reports. Evidence was not obtained for a cluster of lysosomal enzyme structural genes. In demonstrating that GUS was not assigned to chromosome 9 utilizing an X/9 translocation segregating in cell hybrids, the gene coding for human adenylate kinase1 was confirmed to be located on chromosome 9.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00484467
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