Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.

Lieman-Hurwitz, Judy; Dafni, Naomi; Lavie, Vered; Groner, Yoram

doi:10.1073/pnas.79.9.2808

Cited by 76 publications

(27 citation statements)

References 21 publications

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“…1. Ten micrograms of DNA was digested with Pst I and blot-hybridized with a 32P-labeled human CuZnSOD cDNA clone (17).…”

Section: Resultsmentioning

confidence: 99%

“…To permit the systematic investigation of the possible involvement of CuZnSOD overproduction in the etiology of DS, the gene and its cDNA were cloned (16)(17)(18) and then introduced into human HeLa cells and mouse L cells as part of recombinant plasmids containing the neomycin-resistance (NeoR) selectable marker (19). Cell clones expressing elevated levels (up to 6-fold) of authentic enzymatically active h-CuZnSOD were isolated and found to have altered properties, with increased lipid peroxidation and higher resistance to the toxic effects of paraquat, a superoxide generator.…”

mentioning

confidence: 99%

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Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

Epstein

Avraham

Lovett

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

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407

210

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Down syndrome, the phenotypic expression of human trisomy 21, is presumed to result from a 1.5-fold increase in the expression of the genes on human chromosome 21. As an approach to the development of an animal model for Down syndrome, several strains of transgenic mice that carry the human Cu/Zn-superoxide dismutase gene have been prepared. These animals express the transgene in a manner similar to that of humans, with 0.9-and 0.7-kilobase transcripts in a 1:4 ratio, and synthesize the human enzyme in an active form capable offorming human-mouse enzyme heterodimers. Cu/Znsuperoxide dismutase activity is increased from 1.6-to 6.0-fold in the brains of four transgenic strains and to an equal or lesser extent in several other tissues. These animals provide a unique system for studying the consequences of increased dosage of the Cu/Zn-superoxide dismutase gene in Down syndrome and the role of this enzyme in a variety of other pathological processes.

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“…1. Ten micrograms of DNA was digested with Pst I and blot-hybridized with a 32P-labeled human CuZnSOD cDNA clone (17).…”

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

Epstein

Avraham

Lovett

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

Self Cite

407

210

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“…Superoxide dismutase 1 (SOD1 cDNA pS61-10 was kindly provided by Y. Groner (17). A 650-bp PstI fragment oi'ps61-10 was used.…”

Section: Analysis Of Giant Dna Fragments From Sorted Chromosome By Pumentioning

confidence: 99%

“…A 1.3-kb PstI fragment of p-v-sis was used (7). The INSR gene, SODl gene, and c-sis gene were mapped to chromosome 19~13.3-p13.2, 21q22.1, and 22q12.3-13.1, respectively (1,17,25). A 300-bp BarnHI fragment of human AZu repetitive sequence clone BLUR8 (6) was used.…”

Section: Analysis Of Giant Dna Fragments From Sorted Chromosome By Pumentioning

confidence: 99%

Isolation of giant DNA fragments from flow‐sorted human chromosomes

et al. 1990

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We have established a method using a conventional cell sorter equipped with a single argon laser to sort intact human chromosomes that can be used as a source for the production of giant DNA fragments. Various improvements were made to both the equipment and sorting method to enhance the sorting resolution and avoid destruction of chromosomal DNA. Using this improved method chromosomes 21 and 22 were sorted from the B-lymphoblastoid line GM00130B, digested with the rare cutting restriction endonuclease NotI, and analyzed by pulsed field gel electrophoresis followed by Southern hybridization using the AZu repetitive sequence as a probe. More than 25 discrete NotI giant DNA fragments ranging from 50 kb to longer than 2.5 Mb were separated and the size distribution pattern was unique for each chromosome, indicating successful sorting of intact chromosomes. The cumulative size of these AZu-positive NotI DNA fragments were 22.7 Mb and 25.5 Mb for chromosomes 21 and 22, respectively. These values are 47% and 49% of the estimated size of chromosomes 21 (48 Mb) and 22 (52 Mb).

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“…A human cDNA clone, kindly provided by Y. Groner, which contains a 620-bp PstI insert including 459 bp coding for hSOD-I [12] was used as probe. UNAs from positive recombinant phages were digested with EcoRI and run on agarose gels.…”

Section: Biological Materialsmentioning

confidence: 99%

Developmental expression of Cu,Zn superoxide dismutase in Xenopus

Montesano

Carrı̀

Mariottini

et al. 1989

European Journal of Biochemistry

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(Reccned February 9iJune 13, 3989) -EJB 89 0162 cDNA clones for Xenopus Iuevis Cu,Zn-superoxide dismutase were isolated, sequenced and used as probes lo study the expression of the corresponding gene during oogenesis and embryogenesis ; Cu,Zn-superoxide dismutase activity was also monitorcd throughout development. It has been observed that its mRNA is actively synthesized during early oogenesis, reaching a maximum level at stage 11, and is utilized through oogenesis. This results in an accumulation of enzyme activity during oocyte growth, paralleling the accumulation of the several other cellular components which are stored in the oocytc to bc utilized later on by the developing embryo. In fact, Cu,Znsuperoxide dismutase iictivity is present at an approximately constant level until late embryonic development, while its mRNA disappears soon after fertilization to be accumulated again only during the last part of embryogenesis. This developmental expression behaviour can be viewed as typical of an housekeeping function and suggcsts that Cu,Zn-superoxide dismutase activity is a constant need of the cell rather than being subject to regulation by oxygen metabolism.Superoxide dismutases (SOD ; superoxide : superoxide oxidoreductase) are enzymes that catalyze dismutation of superoxide radicals (0; ~ j into oxygen and hydrogen peroxide in an extremely efficient fashion [I]. This reaction is considered to play a central role in the protection of aerobic cells against oxygen toxicity; in fact 0; -can initiate and propagate oxygen-dependent free-radical chain reactions which result in cell damage and death. With few exceptions, eukaryotic cells have a manganese-containing enzyme (Mn-SOD), which is mainly mitochondria-associated in most species and is resistant to inhibition by cyanide, and an ubiquitous predominant copper/ zinc-containing enzyme (Cu,Zn-SOD) which is CN-sensitive. While recent studies have reported on molecular aspects concerning the biosynthesis of Mn-SOD in eukaryotes [2, 31, not much is known about the control ofCu,Zn-SOD biosynthesis. However, the housekeeping nature of Cu,Zn-SOD activity is suggested by the ubiquitous presence of the protein at reasonably comparable levels, irrespective of the species [4] or tissue [5] examined. Knowledge of enzyme expression in early embryonic stages would be extremely important in this respect. Therefore, it seemed interesting to start investigating Cu,Zn-SOD in Xenopus luevis, an amphibian species which provides a useful model for the study of gene activity during development. The presence of Cu,Zn-SOD has been detected by gel electrophoresis in the cytosolic fraction of X. lurvis heart and kidney homogenates [6] Here we describe the isolation of cDNA clones for X . laevis Cu,Zn-SOD. The nucleotide and deduced amino acid sequences are given for the cDNA corresponding to one of the two Cu,Zn-SOD gene copies present in the genome of X . laevis. A developmental analysis of Cu,Zn-SOD gene expression was carried out by following both the Cu,Zn-SOD mRNA level, using the...

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Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.

Abstract: The gene locus for human cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15

Cited by 76 publications

References 21 publications

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

Isolation of giant DNA fragments from flow‐sorted human chromosomes

Developmental expression of Cu,Zn superoxide dismutase in Xenopus

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