Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part II)

Amino Acids

Volumn 24, Issue 1-2, 2003, Pages 119-125

  Cheon, M S ^a   Bajo, M ^a,b   Kim, S H ^a   Claudio, J O ^c   Stewart, A K ^c   Patterson, D ^d   Kruger, W D ^e   Kondoh, H ^f   Lubec, Gert ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b INSTITUTE OF CHEMISTRY   (Slovakia)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d UNIVERSITY OF DENVER   (United States)

^e FOX CHASE CANCER CENTER   (United States)

^f OSAKA UNIVERSITY   (Japan)

Author keywords

AlphaA crystallin; CBS; Chromosome 21; Down syndrome; DYRK1A; FTCD; GARS AIRS GART; HACS1

Indexed keywords

ALPHA CRYSTALLIN; CHROMOSOME PROTEIN; CYSTATHIONINE BETA SYNTHASE; PHOSPHORIBOSYLAMINE GLYCINE LIGASE; PHOSPHORIBOSYLFORMYLGLYCINAMIDINE CYCLO-LIGASE; PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE; PROTEIN DYRK1A; PROTEIN HACS1; UNCLASSIFIED DRUG;

ARTICLE; BRAIN CORTEX; CHROMOSOME 21; DOWN SYNDROME; FEMALE; FETUS; GENE DOSAGE; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; TRISOMY 21;

EID: 0037355919     PISSN: 09394451     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00726-002-0337-1     Document Type: Article

References (30)

1. Al-Gazali LI, Padmanabhan R, Melnyk S, Yi P, Pogribny IP, Pogribna M, Bakir M, Hamid ZA, Abdulrazzaq Y, Dawodu A, James SJ (2001) Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect. Am J Med Genet 103: 128-132
2. Altafaj X, Dierssen M, Baamonde C, Marti E, Visa J, Guimera J, Oset M, Gonzalez JR, Florez J, Fillat C, Estivill X (2001) Neurodevelopment delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum Mol Genet 18: 1915-1923
3. Andley UP, Song Z, Wawrousek EF, Fleming TP, Bassnett S (2000) Differential protective activity of alpha A- and alpha-B crystallin in lens epithelial cells. J Biol Chem 275: 36823-36831
4. Bashour AM, Bloom GS (1998) 58K, a microtubule-binding Golgi-protein, is a formiminotransferase cyclodeaminase. J Biol Chem 273: 19612-19617
5. Becker W, Weber Y, Wetzel K, Eirmbter K, Tejedor FJ, Joost HG (1998) Sequence characteristic, subcellular localisation and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases. J Biol Chem 273: 25893-25902
6. Brodsky G, Barnes T, Blekan J, Becker L, Cox M, Patterson D (1997) The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome. Hum Mol Genet 6: 2043-2050
7. Chen P, Poddar R, Tipa EV, Dibello PM, Moravec CD, Robinson K, Green R, Kruger WD, Garrow TA, Jacobsen DW (1999) Homocysteine metabolism in cardiovascular cells and tissues: implications for hyperhomocysteinemia and cardiovascular disease. Adv Enzyme Regul 39: 93-109
8. Claudio JO, Zhu YX, Benn S, Shukla AH, McGlade CJ, Falcioni N, Stewart AK (2001) HACS1 encodes a novel SH3-SAM adaptor protein differentially expressed in normal and malignant hematopoietic cells. Oncogene 20: 5373-5377
9. De Rijk EP, Van Rijk AF, Van Esch E, De Jong WW, Wesseling P, Bloemendal H (2000) Demyelination and axonal dystrophy in alpha A-crystallin transgenic mice. Int J Exp Pathol 81: 271-282
10. Dong A, Kery V, Matsuura J, Manning MC, Kraus JP, Carpenter JF (1997) Secondary structure of recombinant human cystathionine beta-synthase in aqueous solution: effect of ligand binding and proteolytic truncation. Arch Biochem Biophys 344: 125-132
11. Engidawork E, Balic N, Fountoulakis M, Dierssen M, Greber-Platzer S, Lubec G (2001a) β-Amyloid precursor protein, ETS-2 and collagen alpha 1 (VI) chain precursor, encoded on chromosome 21, are not overexpressed in fetal Down syndrome: further evidence against gene dosage effect. J Neural Transm [Suppl 61]: 335-346
12. Engidawork E, Balic N, Juranville JF, Foutoulakis M, Dierssen M, Lubec G (2001b) Unaltered expression of Fas (CD95/APO-1), caspase-3, bcl-2 and annexins in brain of fetal Down syndrome: evidence against increased apoptosis. J Neural Transm [Suppl 61]: 149-162
13. Fowler B (2001) The folate cycle and disease in humans. Kidney Int 59: S-221-S-229
14. Gao Y, Sztul E (2001) A novel interaction of the Golgi complex with the vimentin intermediate filament cytoskeleton. J Cell Biol 152: 877-894
15. Greber-Platzer S, Schatzmann-Turhani D, Cairns N, Balcz B, Lubec G (1999) Expression of the transcription factor ETS2 in brain of patients with Down syndrome-evidence against the overexpression-gene dosage hypothesis. J Neural Transm [Suppl 57]: 269-281
16. Guimera J, Casas C, Estivill X, Pritchard M (1999) Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. Genomics 57: 407-418
17. Heisenberg M, Borst A, Wagner S, Byers M (1985) Drosophila mushroom body mutants are deficient in olfactory learning. J Neurogenet 2: 1-30
18. Horwitz J (2000) The function of alpha-crystallin in vision. Semin Cell Dev Biol 11: 53-60
19. Kamradt MC, Chen F, Cryns VL (2001) The small heat shock protein alpha B-crystallin negatively regulates cytochrome c- and caspase-8-dependent activation of caspase-3 by inhibiting its autoproteolytic maturation. J Biol Chem 276: 16059-16063
20. Kery V, Poneleit L, Kraus JP (1998) Trypsin cleavage cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences. Arch Biochem Biophys 355: 222-232
21. Okui M, Ide T, Morita K, Funakoshi E, Ito F, Ogita K, Yoneda Y, Kudoh J, Shimizu N (1999) High-level expression of the Mnb/Dyrk1A gene in brain and heart during rat early development. Genomics 62: 165-171
22. Pogribna M, Melnyk S, Pogribny I, Chango A, Yi P, James SJ (2001) Homocysteine metabolism in children with Down syndrome: in vitro modulation. Am J Hum Genet 69: 88-95
23. Rahmani Z, Lopes C, Rachidi M, Delabar JM (1998) Expression of the Mnb (dyrk) protein in adult and embryonic mouse tissues. Biochem Biophys Res Commun 253: 514-518
24. Reeves RH, Irving NG, Moran TH, Wohn A, Kitt C, Sisodia SS, Schmidt C, Bronson RT, Davisson MT (1995) A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet 11: 177-184
25. Rosenquist TH, Ratashak SA, Selhub J (1996) Homocysteine induce congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci USA 93: 15227-15232
26. Shan X, Dunbrack RL, Christopher SA, Kruger WD (2001) Mutations in the regulatory domain of cystathionine β-synthase can functionally suppress patient-derived mutations in cis. Hum Mol Genet 10: 635-643
27. Shane B, Stokstad ELR (1984) Folates in the synthesis and catabolism of histidine. In: Blakey RL, Bnkovic SJ (eds) Folates and pterins, vol 1. John Willey & Sons, New York, pp 433-455
28. Uchida T, Nakao A, Nakano N, Kuramasu A, Saito H, Okumura K, Ra C, Ogawa H (2001) Identification of Nash1, a novel protein containing a nuclear localization signal, a sterile alpha motif, and an SH3 domain preferentially expressed in mast cells. Biochem Biophys Res Commun 288: 137-141
29. Watanabe M, Osada J, Aratani Y, Kluckman K, Reddick R, Malinow MR, Maeda N (1995) Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proc Natl Acad Sci USA 92: 1585-1589
30. Yoo BC, Fountoulakis M, Dierssen M, Lubec G (2001) Expression patterns of chaperone proteins in cerebral cortex of the fetus with Down syndrome: dysregulation of T-complex protein 1. J Neural Transm [Suppl 61]: 321-334