Summary
Superoxide dismutase CuZn (SOD1) enzymatic activity was measured in five orangutans (Pongo pygmaeus, PPY) and compared to that of man, chimpanzee, and gorilla. It was found to be increased by a factor of two in one orangutan (Ralfina) and by a factor of 1.5 in the four others. In situ hybridization of the SOD1 cDNA human probe showed a heterozygous intrachromosomal rearrangement of pair PPY XXI, possibly an insertion, in Ralfina. Southern blotting showed that the SOD1 gene is modified in the three orangutans that were investigated and that a further modification of the 5′-end of the gene had occurred in Ralfina. The evolutionary implications of these observations are discussed.
Similar content being viewed by others
References
Beauchamp C, Fridovich I (1971) SOD: improved assays and assay applicable to acrylamid gels. Ann Biochem 44:276–287
Blanquet V, Goldgaber D, Turleau C, Créau-Goldberg N, Delabar J, Sinet PM, Roudier M, Grouchy J de (1987a) The β amyloid protein (AD-AP) cDNA hybridizes in normal and Alzheimer individuals near the interface of 21q21 and q22.1. Ann Génét (Paris) 30:68–69
Blanquet V, Goldgaber D, Turleau C, Créau-Goldberg N, Delabar J, Sinet PM, Roudier M, Grouchy J de (1987b) In situ hybridization of the β amyloid protein (APP) cDNA to the vicinity of the interface of 21q21 and q22 in normal and Alzheimer's disease individuals. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:1–4
Blanquet V, Turleau C, Créau-Goldberg N, Cochet C, Grouchy J de (1987c) De novo t(2;13)(p24.3;q14.2) and retinoblastoma. Mapping of two 13q14 probes by in situ hybridization. Hum Genet 76:102–105
Créau-Goldberg N, Turleau C, Cochet C, Huerre C, Junien C, Grouchy J de (1984) Conservation of the human COL1A1-TK-GAA synteny and homeologous assignment in the African green monkey and the baboon (Cercopithecoidae). Hum Genet 68:333–336
Delabar J, Sinet PM, Chadefaux B, Nicole A, Gegonne A, Stehelin D, Fridlansky F, Créau-Goldberg N, Turleau C, Grouchy J de (1987) Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome). Hum Genet 76:225–229
Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13; Addendum (1984) Anal Biochem 137:266–267
Goldgaber D, Lerman MI, McBride OW, Saffioti U, Gajdusek DC (1987) Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Proc Natl Acad Sci USA 235:877–880
Grouchy J de (1987) Chromosome phylogenies of man, great apes, and old world monkeys. Genetica 73:37–52
Grouchy J de, Nicole A, Cochet C, Créau-Goldberg N, Sinet PM (1988a) Twofold CuZnSOD activity suggesting homozygous submicroscopic duplication of chromosome 21 in the orangutan. Ann Génét (Paris) 31:73–74
Grouchy J de, Nicole A, Cochet C, Créau-Goldberg N, Sinet PM (1988b) Two-fold sesquialter SOD-1 activities in orangutans suggesting micro-rearrangements of chromosome 21. Clin Genet 34:387–426
Grouchy J de (1988c) Evolution of the concept of phenotype/ karyotype correlation. Discuss Neurosci 5:16–22
Human Gene Mapping 10 (1989) 10th International Workshop on Human Gene Mapping. Cytogenet Cell Genet 54:1–1147
Huret JL, Delabar JM, Marlhens F, Aurias A, Nicole A, Berthier M, Tanzer I, Sinet PM (1987) Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotyp anomaly. Hum Genet 75:251–257
ISCN (1985) An international system for human cytogenetic nomenclature. Harnden DG, Klinger AP (eds) Published in collaboration with Cytogenet Cell Genet. Karger, Basel
Levanon D, Lieman-Hurwitz J, Dafni N, Wigderson M, Sherman L, Lauer-Rudich Z, Danciger E, Stein O, Groner Y (1985) Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the CuZn superoxide dismutase. EMBO J 4:77–84
Lieman-Hurwitz J, Dafni N, Lavie V, Groner Y (1982) Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome. Proc Natl Acad Sci USA 79:2808–2811
Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL, Mattei JF (1985) DNA probe localization at 18p11.3 by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet 69:268–271
Rahmani Z, Barton J, Sinet PM, Huret JL, Bertier M, Patterson D, Delabar JM (1989) Submicroscopic duplication of SOD1 on individual chromosome 21 cloned in a human/CHO hybrid established from a patient with mild Down syndrome phenotype (abstract, A2164) (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 54:1–1147
Turleau C, Grouchy J de, Chavin-Colin F, Mortelmans J, Van denBergh W (1975) Inversion péricentrique du 3, homozygote et hétérozygote, et translation centromérique du 12 dans une amille d'orangs-outangs. Implications évolutives. Ann Génét (Paris) 18:227–233
Wahl GM, Stern M, Sétarck GR (1979) Efficient transfer of large DNA fragments from agarose gels to diazobenzyl oxymethyl-paper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci USA 76:3683–3687
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
de Grouchy, J., Nicole, A., Cochet, C. et al. Increased SOD1 enzymatic activity and gene modifications in orangutans: evolutionary implications. Hum Genet 87, 567–570 (1991). https://doi.org/10.1007/BF00209013
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00209013