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

First Author  Lieman-Hurwitz J Year  1982
Journal  Proc Natl Acad Sci U S A Volume  79
Issue  9 Pages  2808-11
PubMed ID  6211674 Mgi Jnum  J:6797
Mgi Id  MGI:55269 Doi  10.1073/pnas.79.9.2808
Citation  Lieman-Hurwitz J, et al. (1982) Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome. Proc Natl Acad Sci U S A 79(9):2808-11
abstractText  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.
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