Abstract
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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Selected References
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- Brack C. DNA electron microscopy. CRC Crit Rev Biochem. 1981;10(2):113–169. doi: 10.3109/10409238109114551. [DOI] [PubMed] [Google Scholar]
- Crosti N., Serra A., Rigo A., Viglino P. Dosage effect of SOD-A gene in 21-trisomic cells. Hum Genet. 1976 Feb 29;31(2):197–202. doi: 10.1007/BF00296146. [DOI] [PubMed] [Google Scholar]
- Feaster W. W., Kwok L. W., Epstein C. J. Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21. Am J Hum Genet. 1977 Nov;29(6):563–570. [PMC free article] [PubMed] [Google Scholar]
- Frants R. R., Eriksson A. W., Jongbloet P. H., Hamers A. J. Letter: Superoxide dismutase in Down syndrome. Lancet. 1975 Jul 5;2(7923):42–43. doi: 10.1016/s0140-6736(75)92996-7. [DOI] [PubMed] [Google Scholar]
- Fridovich I. Superoxide dismutases. Annu Rev Biochem. 1975;44:147–159. doi: 10.1146/annurev.bi.44.070175.001051. [DOI] [PubMed] [Google Scholar]
- Grunstein M., Hogness D. S. Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene. Proc Natl Acad Sci U S A. 1975 Oct;72(10):3961–3965. doi: 10.1073/pnas.72.10.3961. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hagemeijer A., Smit E. M. Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype. Hum Genet. 1977 Aug 31;38(1):15–23. doi: 10.1007/BF00295803. [DOI] [PubMed] [Google Scholar]
- Hartz J. W., Deutsch H. F. Subunit structure of human superoxide dismutase. J Biol Chem. 1972 Nov 10;247(21):7043–7050. [PubMed] [Google Scholar]
- Kozak C. A., Lawrence J. B., Ruddle F. H. A sequential staining technique for the chromosomal analysis of the interspecific mouse/hamster and mouse/human somatic cell hybrids. Exp Cell Res. 1977 Mar 1;105(1):109–117. doi: 10.1016/0014-4827(77)90156-2. [DOI] [PubMed] [Google Scholar]
- Kurnit D. M. Down syndrome: gene dosage at the transcriptional level in skin fibroblasts. Proc Natl Acad Sci U S A. 1979 May;76(5):2372–2375. doi: 10.1073/pnas.76.5.2372. [DOI] [PMC free article] [PubMed] [Google Scholar]
- LEJEUNE J., GAUTIER M., TURPIN R. Etude des chromosomes somatiques de neuf enfants mongoliens. C R Hebd Seances Acad Sci. 1959 Mar 16;248(11):1721–1722. [PubMed] [Google Scholar]
- Lovett M. A., Guiney D. G., Helinski D. R. Relaxation complexes of plasmids ColE1 and ColE2: unique site of the nick in the open circular DNA of the relaxed complexes. Proc Natl Acad Sci U S A. 1974 Oct;71(10):3854–3857. doi: 10.1073/pnas.71.10.3854. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mattei J. F., Mattei M. G., Baeteman M. A., Giraud F. Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns. Hum Genet. 1981;56(3):409–411. doi: 10.1007/BF00274703. [DOI] [PubMed] [Google Scholar]
- Niebuhr E. Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21. Humangenetik. 1974 Jan 22;21(1):99–101. doi: 10.1007/BF00278575. [DOI] [PubMed] [Google Scholar]
- Ricciardi R. P., Miller J. S., Roberts B. E. Purification and mapping of specific mRNAs by hybridization-selection and cell-free translation. Proc Natl Acad Sci U S A. 1979 Oct;76(10):4927–4931. doi: 10.1073/pnas.76.10.4927. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sichitiu S., Sinet P. M., Lejeune J., Frézal J. Surdosage de la forme dimérique de l'indophénoloxydase dans la trisomie 21, secondaire au surdosage génique. Humangenetik. 1974 Jun 26;23(1):65–72. doi: 10.1007/BF00295684. [DOI] [PubMed] [Google Scholar]
- Sinet P. M., Couturier J., Dutrillaux B., Poissonnier M., Raoul O., Rethore M. O., Allard D., Lejeune J., Jerome H. Trisomie 21 et superoxyde dismutase-1 (IPO-A). Tentative de localisation sur la sous bande 21Q22.1. Exp Cell Res. 1976 Jan;97:47–55. doi: 10.1016/0014-4827(76)90653-4. [DOI] [PubMed] [Google Scholar]
- Tan Y. H., Tischfield J., Ruddle F. H. The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21. J Exp Med. 1973 Feb 1;137(2):317–330. doi: 10.1084/jem.137.2.317. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Thomas P. S. Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose. Proc Natl Acad Sci U S A. 1980 Sep;77(9):5201–5205. doi: 10.1073/pnas.77.9.5201. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Todaro G. J., Green H., Swift M. R. Susceptibility of human diploid fibroblast strains to transformation by SV40 virus. Science. 1966 Sep 9;153(3741):1252–1254. doi: 10.1126/science.153.3741.1252. [DOI] [PubMed] [Google Scholar]
- Villa-Komaroff L., Efstratiadis A., Broome S., Lomedico P., Tizard R., Naber S. P., Chick W. L., Gilbert W. A bacterial clone synthesizing proinsulin. Proc Natl Acad Sci U S A. 1978 Aug;75(8):3727–3731. doi: 10.1073/pnas.75.8.3727. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Weissenbach J., Zeevi M., Landau T., Revel M. Identification of the translation products of human fibroblast interferon mRNA in reticulocyte lysates. Eur J Biochem. 1979 Jul;98(1):1–8. doi: 10.1111/j.1432-1033.1979.tb13153.x. [DOI] [PubMed] [Google Scholar]
- Wickens M. P., Buell G. N., Schimke R. T. Synthesis of double-stranded DNA complementary to lysozyme, ovomucoid, and ovalbumin mRNAs. Optimization for full length second strand synthesis by Escherichia coli DNA polymerase I. J Biol Chem. 1978 Apr 10;253(7):2483–2495. [PubMed] [Google Scholar]
- Williams J. D., Summitt R. L., Martens P. R., Kimbrell R. A. Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet. 1975 Jul;27(4):478–485. [PMC free article] [PubMed] [Google Scholar]