scholarly journals Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy

1987 ◽  
Vol 248 (3) ◽  
pp. 697-701 ◽  
Author(s):  
Y Ben-Yoseph ◽  
M Potier ◽  
D A Mitchell ◽  
B A Pack ◽  
S B Melançon ◽  
...  
Keyword(s):  
Cell Lines ◽  
Molecular Size ◽  
Normal Activity ◽  
Complementation Group ◽  
Enzyme Molecule ◽  
Cell Disease ◽  
Acceptor Substrate ◽  
Golgi Membranes ◽  
Missing Enzyme ◽  
Normal Enzyme

The size of the mutant N-acetylglucosamine 1-phosphotransferase in Golgi membranes from fibroblasts of patients with I-cell disease and classical pseudo-Hurler polydystrophy, which comprised one complementation group characterized by deficiency towards both artificial and natural acceptor substrates, was significantly smaller than the normal enzyme, 151-174 kDa compared with 225-278 kDa. The size of the mutant enzyme from cell lines of patients with variant forms of pseudo-Hurler polydystrophy, which comprised another complementation group characterized by normal activity towards mono- and oligo-saccharide substrates, was significantly larger than the normal enzyme, ranging from 321 to 356 kDa in two families and from 528 to 547 kDa in a third family. These findings suggest that the mutations in I-cell disease and classical pseudo-Hurler polydystrophy result in a missing enzyme component, which renders the enzyme catalytically inefficient toward any type of acceptor substrate. In contrast, the mutations in the variant forms of pseudo-Hurler polydystrophy produce a larger enzyme molecule which is active toward small substrates but is incapable of binding natural lysosomal glycoprotein substrates.

scholarly journals EB1 and EB3 regulate microtubule minus end organization and Golgi morphology

2017 ◽  
Vol 216 (10) ◽  
pp. 3179-3198 ◽  
Author(s):  
Chao Yang ◽  
Jingchao Wu ◽  
Cecilia de Heus ◽  
Ilya Grigoriev ◽  
Nalan Liv ◽  
...  
Keyword(s):  
Cell Division ◽  
Cell Lines ◽  
Protein Complexes ◽  
Focal Adhesions ◽  
Microtubule Organization ◽  
The Core ◽  
Microtubule Polymerization ◽  
Golgi Membranes ◽  
Core Components ◽  
Knockout Technology

End-binding proteins (EBs) are the core components of microtubule plus end tracking protein complexes, but it is currently unknown whether they are essential for mammalian microtubule organization. Here, by using CRISPR/Cas9-mediated knockout technology, we generated stable cell lines lacking EB2 and EB3 and the C-terminal partner-binding half of EB1. These cell lines show only mild defects in cell division and microtubule polymerization. However, the length of CAMSAP2-decorated stretches at noncentrosomal microtubule minus ends in these cells is reduced, microtubules are detached from Golgi membranes, and the Golgi complex is more compact. Coorganization of microtubules and Golgi membranes depends on the EB1/EB3–myomegalin complex, which acts as membrane–microtubule tether and counteracts tight clustering of individual Golgi stacks. Disruption of EB1 and EB3 also perturbs cell migration, polarity, and the distribution of focal adhesions. EB1 and EB3 thus affect multiple interphase processes and have a major impact on microtubule minus end organization.

Elevated plasma concentrations of C-flanking gastrin-releasing peptide in small-cell lung cancer.

1989 ◽  
Vol 7 (12) ◽  
pp. 1831-1838 ◽  
Author(s):  
J J Holst ◽  
M Hansen ◽  
E Bork ◽  
T W Schwartz
Keyword(s):  
Cell Lines ◽  
Clinical Course ◽  
Plasma Concentrations ◽  
Molecular Size ◽  
Normal Subjects ◽  
Small Cell ◽  
Small Cell Lung ◽  
Extensive Disease ◽  
Lung Cancers ◽  
Gastrin Releasing Peptide

Many small-cell lung cancers (SCLCs) produce gastrin-releasing peptides (GRPs) (mammalian bombesin) but the plasma concentration of GRP is rarely elevated, possibly because of its rapid elimination. We developed a radioimmunoassay for the C-terminal flanking peptide of proGRP and measured its concentration in plasma from 71 patients with SCLC, in 27 healthy subjects and in 49 patients with other diseases including lung carcinomas. In addition, we studied the molecular size of immunoreactive C-flanking peptide in two SCLC cell lines and in plasma from SCLC patients. The concentration of immunoreactive C-flanking peptide in normal subjects and in control patients did not exceed 10 pmol/L and 26 pmol/L, whereas 72% of the SCLC patients had C-flanking peptide concentrations above 10 pmol/L. In patients with extensive disease (n = 35) the median concentration was 71 pmol/L (range, 10 to 940). ProGRP C-flanking peptide levels paralleled the clinical course in 12 patients. The molecule(s) responsible for the immunoreactivity had a molecular size of about 8 to 10 kd in both patient plasma and tumor cell lines, suggesting that the measured peptide(s) represented major fragment(s) if not the entire C-flanking peptide of proGRP. Thus this peptide(s) seems to be a useful marker for SCLC.

Complementation group assignments in fanconi anemia fibroblast cell lines from North America

1997 ◽  
Vol 23 (1) ◽  
pp. 1-7 ◽  
Author(s):  
P. M. Jakobs ◽  
E. Fiddler-Odell ◽  
C. Reifsteck ◽  
S. Olson ◽  
R. E. Moses ◽  
...  
Keyword(s):  
North America ◽  
Cell Lines ◽  
Fanconi Anemia ◽  
Fibroblast Cell ◽  
Complementation Group ◽  
Fibroblast Cell Lines

scholarly journals Linkage in cultured Chinese hamster cells of two genes, emtB and leuS, involved in protein synthesis and isolation of cell lines with mutations in three linked genes.

1980 ◽  
Vol 87 (3) ◽  
pp. 697-702 ◽  
Author(s):  
J J Wasmuth ◽  
L Y Chu
Keyword(s):  
Protein Synthesis ◽  
Cell Lines ◽  
High Frequency ◽  
Chinese Hamster ◽  
Complementation Group ◽  
Trna Synthetase ◽  
Lung Cells ◽  
Very High Frequency ◽  
Resistant Mutants ◽  
Very High

We have determined via segregation analyses from appropriate hybrids that two genes involved in protein synthesis, one encoding for a ribosomal protein (emtB) and one encoding for leucyl-tRNA synthetase (leuS), cosegregate at a very high frequency and are linked in both Chinese hamster ovary and lung cells. In contrast, the emtA locus, defined by a second complementation group of emetine-resistant mutants which also have alterations affecting protein synthesis and probably the ribosome, is not linked to leuS. In addition, we have determined that a third gene, one that can be altered to give rise to chromate resistance, is syntenic with emtB and leuS. We have selected cell lines with mutations in each of these three linked genes and have shown that the three loci cosegregate at a high frequency. Because the mutations in these three linked genes provide easily distinguishable phenotypes, these cell lines should provide a powerful tool for examining several important questions concerning mitotic recombination in somatic cells.

scholarly journals Generation of integration-free iPS cell lines from three sickle cell disease patients from the state of Bahia, Brazil

2018 ◽  
Vol 33 ◽  
pp. 10-14 ◽  
Author(s):  
Gabriele Louise Soares Martins ◽  
Bruno Diaz Paredes ◽  
Carine Machado Azevedo ◽  
Gabriela Louise De Almeida Sampaio ◽  
Carolina Kymie Vasques Nonaka ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Cell Lines ◽  
Sickle Cell ◽  
The State ◽  
Cell Disease ◽  
Ips Cell

A gene involved in control of human cellular senescence on human chromosome 1q

1994 ◽  
Vol 14 (4) ◽  
pp. 2291-2297
Author(s):  
P J Hensler ◽  
L A Annab ◽  
J C Barrett ◽  
O M Pereira-Smith
Keyword(s):  
Human Chromosome ◽  
Cell Lines ◽  
Cellular Senescence ◽  
Human Cell ◽  
Complementation Group ◽  
Chromosome 1 ◽  
Proliferative Potential ◽  
Human Cell Lines ◽  
Complementation Groups ◽  
Human Chromosome 1

Normal cells in culture exhibit limited division potential and have been used as a model for cellular senescence. In contrast, tumor-derived or carcinogen- or virus-transformed cells are capable of indefinite division. Fusion of normal human diploid fibroblasts with immortal human cells yielded hybrids having limited life spans, indicating that cellular senescence was dominant. Fusions of various immortal human cell lines with each other led to the identification of four complementation groups for indefinite division. The purpose of this study was to determine whether human chromosome 1 could complement the recessive immortal defect of human cell lines assigned to one of the four complementation groups. Using microcell fusion, we introduced a single normal human chromosome 1 into immortal human cell lines representing the complementation groups and determined that it caused loss of proliferative potential of an osteosarcoma-derived cell line (TE85), a cytomegalovirus-transformed lung fibroblast cell line (CMV-Mj-HEL-1), and a Ki-ras(+)-transformed derivative of TE85 (143B TK-), all of which were assigned to complementation group C. This chromosome 1 caused no change in proliferative potential of cell lines representing the other complementation groups. A derivative of human chromosome 1 that had lost most of the q arm by spontaneous deletion was unable to induce senescence in any of the immortal cell lines. This finding indicates that the q arm of human chromosome 1 carries a gene or set of genes which is altered in the cell lines assigned to complementation group C and is involved in the control of cellular senescence.

Cell lines from xeroderma pigmentosum complementation group A lack a single-stranded-DNA-binding activity

1983 ◽  
Vol 3 (7) ◽  
pp. 667-674 ◽  
Author(s):  
Urs Kuhnlein ◽  
Siu Sing Tsang ◽  
Opal Lokken ◽  
Silvian Tong ◽  
Daniel Twa
Keyword(s):  
Dna Binding ◽  
Cell Lines ◽  
Xeroderma Pigmentosum ◽  
Human Fibroblasts ◽  
Complementation Group ◽  
Binding Activity ◽  
Single Stranded Dna ◽  
Dna Binding Activity ◽  
A Cell ◽  
D Cell

Human fibroblasts and HeLa cells contain two major DNA-binding activities for superhelical DNA, which can be separated by phosphocellulose chromatography. The DNA-binding activity which elutes first from the column coelutes with and is probably identical to a single-stranded-DNA-binding activity. The second activity has been characterized previously. It binds preferentially to super-helical DNA containing DNA damage, but does not bind to single-stranded DNA. Five cell lines derived from patients with the repairdeficiency syndrome xeroderma pigmentosum (XP) were analyzed for the presence of these binding activities. Four of the cell lines were from the A-complementation group and one was from the D-complementation group of XP. The binding activity with preference for damaged DNA was present in all cell lines. The single-stranded-DNA-binding activity was present in the XP-D cell line but was absent or reduced in all of the four XP-A cell lines tested.

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