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PMID: 6577438 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 80 ·No. 18 ·1983-09-00 ·Pages 5465-9

Sherman L, Dafni N, Lieman-Hurwitz J, Groner Y

Abstract

Cytoplasmic superoxide dismutase (SOD-1; EC 1.15.1.1) is encoded by human chromosome 21. The SOD-1 gene locus is located at chromosomal region 21q22, which is involved in Down syndrome. cDNA clones containing sequences of human SOD-1 were previously isolated. In the present study the nucleotide sequence of one clone, designated pS61-10, was determined. It contains 459 nucleotides representing the entire coding region and 95 nucleotides of the 3' untranslated region. In human cells two poly(A)-containing SOD-1 RNAs of 0.7 and 0.5 kilobases were detected. These two species are also present in monkey cells, whereas mouse cells contain only a 0.5-kilobase RNA. In a mouse/human hybrid line that contains chromosome 21 as the only human chromosome, the two human SOD-1 RNAs were detected, indicating that both are encoded by this chromosome. These RNAs were found in poly(A)-containing polysomal RNA and were translated in vitro to SOD-1 polypeptide; they are therefore functional mRNAs. In normal human fibroblasts 0.002-0.006% of the poly(A)-containing RNA was SOD-1 RNA. The level in monosomic 21 cells was 70% of this value and the level in fibroblasts from Down syndrome patients was about 2 times higher than normal.

MeSH Terms
Base Sequence Chromosomes, Human, 21-22 and Y DNA/analysis Gene Expression Regulation Humans RNA, Messenger/metabolism Superoxide Dismutase/genetics
Chemicals
RNA, Messenger DNA Superoxide Dismutase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Sherman L
Dafni N
Lieman-Hurwitz J
Groner Y
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46 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.80.18.5465
Published
1983-09-00
Pages
5465-9
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC384278
Subset
IM
Databases
GENBANK
K00065
External Links
PubMed source DOI: 10.1073/pnas.80.18.5465 PMC Full Text View journal details
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