Human Cytoplasmic Superoxide Dismutase cDNA Clone: A Probe for Studying the Molecular Biology of down Syndrome

The gene locus for human cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is located in or near a region of chromosome 21 known to be involved in Down syndrome. To approach the molecular biology of this genetic disease we have constructed a SOD-1 cDNA clone...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1982-05, Vol.79 (9), p.2808-2811
Main Authors: Lieman-Hurwitz, Judy, Dafni, Naomi, Lavie, Vered, Groner, Yoram
Format: Article
Language:English
Subjects:
Animals
Cell lines
Chromosomes
Chromosomes, Human, 21-22 and Y
Cloning, Molecular
Complementary DNA
DNA
DNA - genetics
Down syndrome
Down Syndrome - genetics
Gels
Genes
Humans
Messenger RNA
Mice
Nucleotides
Plasmids
RNA
RNA, Messenger - genetics
Superoxide Dismutase - genetics
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Summary:The gene locus for human cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is located in or near a region of chromosome 21 known to be involved in Down syndrome. To approach the molecular biology of this genetic disease we have constructed a SOD-1 cDNA clone. Poly(A)-containing RNA enriched for human SOD-1 mRNA was isolated, used to synthesize double-stranded cDNA, and inserted into the endonuclease Pst I site of the plasmid pBR322. The chimeric molecules were used to transform Escherichia coli. Two clones containing SOD-1 cDNA inserts were identified by their ability to hybridize specifically with mRNA coding for SOD-1. Each of these clones carries a 650-base-pair insert, as was determined by restriction enzyme digestion and electron microscopic heteroduplex analysis. Hybridization of labeled cloned cDNA to RNA blots revealed two distinct SOD-1 mRNA classes of 500 and 700 nucleotides. The data suggest that both are polyadenylylated and are coded by chromosome 21.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.79.9.2808