Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal with trisomy 21

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Li, Chi Ming ^a   Guo, Meirong ^a   Salas, Martha ^a   Schupf, Nicole ^a,b,c   Silverman, Wayne ^c   Zigman, Warren B ^c   Husain, Sameera ^a   Warburton, Dorothy ^a   Thaker, Harshwardhan ^a   Tycko, Benjamin ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

^c NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE; MESSENGER RNA; MYXOVIRUS RESISTANCE PROTEIN; PROTEIN P78; UNCLASSIFIED DRUG; GART PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN; LIGASE; MULTIENZYME COMPLEX; MYXOVIRUS RESISTANCE PROTEINS; PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE;

ARTICLE; CELL TYPE; CHROMOSOME 21; CLINICAL ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; DOWN SYNDROME; FETUS; FETUS HEART; FIBROBLAST; GENE OVEREXPRESSION; GENE TARGETING; GESTATION PERIOD; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRISOMY 21; UNINDEXED SEQUENCE; WESTERN BLOTTING; ALOPECIA AREATA; BIOSYNTHESIS; CELL CULTURE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENETICS; METABOLISM; PATHOLOGY; PRENATAL DEVELOPMENT;

ORTHOMYXOVIRIDAE;

ALOPECIA AREATA; CARBON-NITROGEN LIGASES; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FETAL HEART; FIBROBLASTS; GENE EXPRESSION; GENE EXPRESSION PROFILING; GTP-BINDING PROTEINS; HUMANS; MULTIENZYME COMPLEXES; PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE;

EID: 33645778041     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-24     Document Type: Article

References (67)

1. Shapiro BU The Down syndrome critical region. J Neural Transm Suppl 1999, 57:41-60.
2. Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Sinet PM: Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1993, 1(2):114-124.
3. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, et aL: Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994, 91(11):4997-5001.
4. Engidawork E, Lubec G: Protein expression in Down syndrome brain. Amino Acids 2001, 21(4):331-361.
5. Chung IH, Lee SH, Lee KW, Park SH, Cha KY, Kim NS, Yoo HS, Kim YS, Lee S: Gene expression analysis of cultured amniotic fluid cell with down syndrome by DNA microarray. J Korean Med Sci 2005, 20(1):82-87.
6. Dauphinot L, Lyle R, Rivals I, Dang MT, Moldrich RX, Golfier G, Ettwiller L, Toyama K, Rossier J, Personnaz L, Antonarakis SE, Epstein CJ, Sinet PM, Potier MC: The cerebellar transcriptome during postnatal development of the TsICje mouse, a segmental trisomy model for Down syndrome. Hum Mol Genet 2005, 14(3):373-384.
7. Amano K, Sago H, Uchikawa C, Suzuki T, Kotliarova SE, Nukina N, Epstein CJ, Yamakawa K: Dosage-dependent over-expression of genes in the trisomic region of TsICje mouse model for Down syndrome. Hum Mol Genet 2004, 13(13):1333-1340.
8. Kahlem P, Sultan M, Herwig R, Steinfath M, Balzereit D, Eppens B, Saran NG, Pletcher MT, South ST, Stetten G, Lehrach H, Reeves RH, Yaspo ML: Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. Genome Res 2004, 14(7):1258-1267.
9. FitzPatrick DR, Ramsay J, McGill NI, Shade M, Carothers AD, Hastie ND: Transcriptome analysis of human autosomal trisomy. Hum Mol Genet 2002, 11(26):3249-32586.
10. Mao R, Zielke CL, Zielke HP, Pevsner J: Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. Genomics 2003, 81(5):457-467.
11. Lyle R, Gehrig C, Neergaard-Henrichsen C, Deutsch S, Antonarakis SE: Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res 2004, 14(7):1268-1274.
12. Guimera J, Casas C, Estivill X, Pritchard M: Human minibrain homologue (MNBH/DYRKI): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. Genomics 1999, 57(3):407-418.
13. Gardiner K: Gene-dosage effects in Down syndrome and trisomic mouse models. Genome Biol 2004, 5(10):244.
14. Li CM, Guo M, Borczuk A, Powell CA, Wei M, Thaker HM, Friedman R, Klein U, Tycko B: Gene expression in Wilms'tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition. Am J Pathol 2002, 160(6):2181-2190.
15. Li CM, Kim CE, Margolin AA, Guo M, Zhu J, Mason JM, Hensle TW, Murty VV, Grundy PE, Fearon ER, D'Agati V, Licht JD, Tycko B: CTNNBI mutations and overexpression of Wnt/beta-catenin target genes in WTI -mutant Wilms'tumors. Am J Pathol 2004, 165(6):1943-1953.
16. Aebi M, Fah J, Hurt N, Samuel CE, Thomis D, Bazzigher L, Pavlovic J, Haller O, Staeheli P: cDNA structures and regulation of two interferon-induced human Mx proteins. Mal Cell Biol 1989, 9(11):5062-5072.
17. Horisberger MA: Interferons, Mx genes, and resistance to influenza virus. Am J Respir Crit Care Med 1995, 152(4 Pt 2):S67-71.
18. Gerdes AM, Horder M, Bonnevie-Nielsen V: Gene dosage and down-regulation of the alpha-interferon receptor. Scand J Clin Lab Invest 1992, 52(3):189-192.
19. Epstein LB, Lee SH, Epstein CJ: Enhanced sensitivity of trisomy 21 monocytes to the maturation-inhibiting effect ot interferon. Cell Immunol 1980, 50(1):191-194.
20. Cox DR, Epstein LB, Epstein CJ: Genes coding for sensitivity to interferon (IfRec) and soluble superoxide dismutase (SODI) are linked in mouse and man and map to mouse chromosome 16. Proc Natl Acad Sci USA 1980, 77(4):2168-2172.
21. Epstein LB, Epstein CJ: T-lymphocyte function and sensitivity to interferon in trisomy 21. Cell Immunol 1980, 51(2):303-318.
22. Epstein CJ, Epstein LB, Cox DR, Weil J: Functional implications of gene dosage effects in trisomy 21. Hum Genet Suppl 1981, 2:155-172.
23. Epstein CJ, McManus NH, Epstein LB, Branca AA, D'Alessandro SB, Baglioni C: Direct evidence that the gene product of the human chromosome 21 locus, IFRC, is the interferon-alpha receptor. Biochem Biophys Res Commun 1982, 107(3):1060-1066.
24. Tan YH, Schneider EL, Tischfield J, Epstein CJ, Ruddle FH: Human chromosome 21 dosage: effect on the expression of the interferon induced antiviral state. Science 1974, 186(4158):61-63.
25. Weil J, Tucker G, Epstein LB, Epstein CJ: Interferon induction of (2'-5') oligoisoadenylate synthetase in diploid and trisomy 21 human fibroblasts: relation to dosage of the interferon receptor gene (IRFC). Hum Genet 1983, 65(2):108-111.
26. Epstein CJ, Weil J, Epstein LB: Abnormalities in the interferon response and immune systems in Down syndrome: studies in human trisomy 21 and mouse trisomy 16. Prog Clin Biol Res 1987, 246:191-208.
27. Tazi-Ahnini R, di Giovine FS, McDonagh AJ, Messenger AG, Amadou C, Cox A, Duff GW, Cork MJ: Structure and polymorphism of the human gene for the interferon-induced p78 protein (MXI): evidence -of association with alopecia areata in the Down syndrome region. Hum Genet 2000, 106(6):639-645.
28. Du Vivier A, Munro DD: Alopecia areata and mongolism. Proc R Soc Med 1974, 67(7):596-597.
29. Carter DM, Jegasothy BV: Alopecia areata and Down syndrome. Arch Dermatol 1976, 112(10):1397-1399.
30. Schepis C, Barone C, Siragusa M, Pettinato R, Romano C: An updated survey on skin conditions in Down syndrome. Dermatology 2002, 205(3):234-238.
31. Dourmishev A, Miteva L, Mitev V, Pramatarov K, Schwartz RA: Cutaneous aspects of Down syndrome. Cutis 2000, 66(6):420-424.
32. Aimi J, Qiu H, Williams J, Zalkin H, Dixon JE: De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli. Nucleic Acids Res 1990, 18(22):6665-6672.
33. Chrast R, Scott HS, Papasavvas MP, Rossier C, Antonarakis ES, Barras C, Davisson MT, Schmidt C, Estivill X, Dierssen M, Pritchard M, Antonarakis SE: The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. Genome Res 2000, 10(12):2006-2021.
34. Haller O, Kochs G: interferon-induced mx proteins: dynamin-like GTIPases with antiviral activity. Traffic 2002, 3(10):710-717.
35. Gilhar A, Kam Y, Assy B, Kalish RS: Alopecia areata induced in C3H/HeJ mice by interferon-gamma: evidence for loss of immune privilege. J Invest Dermatol 2005, 124(1):288-289.
36. Kalish RS, Gilhar A: Alopecia areata: autoimmunity - the evidence is compelling. J Investig Dermatol Symp Proc 2003, 8(2):164-167.
37. Agesta N, Zabala R, Diaz-Perez JL: Alopecia areata during interferon alpha-2b/ribavirin therapy. Dermatology 2002, 205(3):300-301.
38. Stafford-Fox V, Guindon KM: Cutaneous reactions associated with alpha interferon therapy. Clin J Oncol Nurs 2000, 4(4):164-168.
39. Kernland KH, Hunziker T: Alopecia areata induced by interferon alpha? Dermatology 1999, 198(4):418-419.
40. Lang AM, Norland AM, Schuneman RL, Tope WD: Localized interferon alfa-2b-induced alopecia. Arch Dermatol 1999, 135(9):1126-1128.
41. Yoon IK, Kim HK, Kim YK, Song IH, Kim W, Kim S, Baek SH, Kim JH, Kim JR: Exploration of replicative senescence-associated genes in human dermal fibroblasts by cDNA microarray technology. Exp Gerontol 2004, 39(9):1369-1378.
42. Devenny DA, Wegiel J, Schupf N, Jenkins E, Zigman W, Krinsky-McHale SJ, Silverman WP: Dementia of the Alzheimer's type and accelerated aging in down syndrome. Sci Aging Knowledge Environ 2005, 2005(14):dn1.
43. Schupf N, Zigman W, Kapell D, Lee JH, Kline J, Levin B: Early menopause in women with Down's syndrome. J Intellect Disabil Res 1997, 41 (Pt 3):264-267.
44. Brugge KL, Grove GL, Clopton P, Grove MJ, Piacquadio DJ: Evidence for accelerated skin wrinkling among developmentally delayed individuals with Down's syndrome. Mech Ageing Dev 1993, 70(3):213-225.
45. Carmeliet G, David G, Cassiman JJ: Cellular ageing of Alzheimer's disease and Down syndrome cells in culture. Mutat Res 1991, 256(2-6):221-231.
46. Weirich-Schwaiger H, Weirich HG, Gruber B, Schweiger M, Hirsch-Kaufmann M: Correlation between senescence and DNA repair in cells from young and old individuals and in premature aging syndromes. Mutat Res 1994, 316(1):37-48.
47. Kulaeva OI, Draghici S, Tang L, Kraniak JM, Land SJ, Tainsky MA: Epigenetic silencing of multiple interferon pathway genes after cellular immortalization. Oncogene 2003, 22(26):4118-4127.
48. Richmond S, Wren C: Early diagnosis of congenital heart disease. Semin Neonatal 2001, 6(1):27-35.
49. Parvathy U, Balakrishnan KR, Ranjith MS, Saldanha R, Sai S, Vakamudi M: Surgical experience with congenital heart disease in Down's syndrome. Indian Heart J 2000, 52(4):438-441.
50. Delisle MF, Sandor GG, Tessier F, Farquharson DF: Outcome of fetuses diagnosed with atrioventricular septal defect. Obstet Gynecol 1999, 94(5 Pt 1):763-767.
51. Malec E, Mroczek T, Pajak J, Januszewska K, Zdebska E: Results of surgical treatment of congenital heart defects in children with Down's syndrome. Pediatr Cordial 1999, 20(5):351-354.
52. Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR: Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med 2001, 3(2):91-101.
53. Lange AW, Rothermel BA, Yutzey KE: Restoration of DSCRI to disomy in the trisomy 16 mouse model of Down syndrome does not correct cardiac or craniofacial development anomalies. Dev Dyn 2005, 233(3):954-963.
54. Kosaki R, Kosaki K, Matsushima K, Mitsui N, Matsumoto N, Ohashi H: Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication. Congenit Anom (Kyoto) 2005, 45(2):62-64.
55. Sandri C, Di Lisi R, Picard A, Argentini C, Calabria E, Myklak K, Scartezzini P, Schiaffino S: Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region. Hum Genet 2004, 114(5):517-519.
56. Lange AW, Molkentin JD, Yutzey KE: DSCRI gene expression is dependent on NIFATcI during cardiac valve formation and colocalizes with anomalous organ development in trisomy 16 mice. Dev Not 2004, 266(2):346-360.
57. Gittenberger-de Groot AC, Bartram U, Oosthoek PW, Bartelings MM, Hogers B, Poelmann RE, Jongewaard IN, Klewer SE: Collagen type VI expression during cardiac development and in human fetuses with trisomy 21. Anat Rec A Discov Mol Cell Evol Biot 2003, 275(2):1109-1116.
58. Casas C, Martinez S, Pritchard MA, Fuentes JJ, Nadal M, Guimera J, Arbones M, Florez J, Soriano E, Estivill X, Alcantara S: Dscri, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis. Mech Dev 2001, 101(1-2):289-292.
59. Fuentes JJ, Genesca L, Kingsbury TJ, Cunningham KW, Perez-Riba M, Estivill X, de la Luna S: DSCRI, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Hum Mol Genet 2000, 9(11):1681-1690.
60. Klewer SE, Krob SL, Kolker SJ, Kitten GT: Expression of type VI collagen in the developing mouse heart. Dev Dyn 1998, 211(3):248-255.
61. Davies GE, Howard CM, Farrer MJ, Coleman MM, Bennett LB, Cullen LM, Wyse RK, Burn J, Williamson R, Kessling AM: Genetic variation in the COL6AI region is associated with congenital heart defects in trisomy 21 (Down's syndrome). Ann Hum Genet 1995, 59(Pt 3):253-269.
62. van den Hoff MJ, Moorman AF, Ruijter JM, Lamers WH, Bennington RW, Markwald RR, Wessels A: Myocardialization of the cardiac outflow tract. Dev Biol 1999, 212(2):477-490.
63. Mao R, Wang X, Spitznagel EL Jr, Frelin LP, Ting JC, Ding H, Kim JW, Ruczinski I, Downey TJ, Pevsner J: Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biol 2005, 6(13):R107.
64. Brodsky G, Barnes T, Bleskan J, Becker L, Cox M, Patterson D: 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 Mot Genet 1997, 6(12):2043-2050.
65. O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S, Vanes L, Hernandez D, Linehan JM, Sharpe PT, Brandner S, Bliss TV, Henderson DJ, Nizetic D, Tybulewicz VL, Fisher EM: An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 2005, 309(5743):2033-2037.
66. Kazuki Y, Kimura M, Nishigaki R, Kai Y, Abe S, Okita C, Shirayoshi Y, Schulz TC, Tomizuka K, Hanaoka K, Inoue T, Oshimura M: Human chromosome 21q22.2-qter carries a gene(s) responsible for downregulation of m1c2a and PEBP in Down syndrome model mice. Biochem Biophys Res Commun 2004, 317(2):491-499.
67. Nishigaki R, Shinohara T, Toda T, Omori A, Ichinose S, Itoh M, Shirayoshi Y, Kurimasa A, Oshimura M: An extra human chromosome 21 reduces mIc-2a expression in chimeric mice and Down syndrome. Biochem Biophys Res Commun 2002, 295(1):112-118.