Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist

BMC Genomics

Volumn 11, Issue 1, 2010, Pages

  Amati, Francesca ^a   Diano, Laura ^a   Campagnolo, Luisa ^a   Vecchione, Lucia ^a   Cipollone, Daria ^b   Bueno, Susana ^c   Prosperini, Gianluca ^c   Desideri, Alessandro ^a   Siracusa, Gregorio ^a   Chillemi, Giovanni ^c   Marino, Bruno ^b   Novelli, Giuseppe ^a,d,e  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c CASPUR   (Italy)

^d FATEBENEFRATELLI HOSPITAL   (Italy)

^e CENTRAL ARKANSAS VETERANS HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID; HYPOXIA INDUCIBLE FACTOR 1ALPHA; RECEPTOR BLOCKING AGENT; RETINOIC ACID; RETINOIC ACID ANTAGONIST; RETINOIC ACID RECEPTOR ALPHA; UNCLASSIFIED DRUG; BMS 189453; CITED2 PROTEIN, MOUSE; HIF1A PROTEIN, MOUSE; MESSENGER RNA; REPRESSOR PROTEIN; RETINOID; TRANSACTIVATOR PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENE; GENE CONTROL; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GREAT VESSELS TRANSPOSITION; HIF1ALPHA GENE; MICROARRAY ANALYSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; VITAMIN SUPPLEMENTATION; ANIMAL EMBRYO; CONGENITAL MALFORMATION; DIET SUPPLEMENTATION; DNA RESPONSIVE ELEMENT; DRUG ANTAGONISM; DRUG EFFECT; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; HUMAN; METABOLISM; MOLECULAR GENETICS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT;

MUS;

BASE SEQUENCE; DIETARY SUPPLEMENTS; DOWN-REGULATION; EMBRYO, MAMMALIAN; EMBRYONIC DEVELOPMENT; FLUORESCENT ANTIBODY TECHNIQUE; FOLIC ACID; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; MOLECULAR SEQUENCE DATA; REPRESSOR PROTEINS; RESPONSE ELEMENTS; RETINOIDS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ALIGNMENT; TRANS-ACTIVATORS; TRANSPOSITION OF GREAT VESSELS; TRETINOIN;

EID: 77956575323     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-11-497     Document Type: Article

References (55)

1. Garg V. Insights into the genetic basis of congenital heart disease. Cell Mol Life Sci 2006, 63:1141-1148. 10.1007/s00018-005-5532-2, 16568242.
2. Weismann CG, Gelb BD. The genetics of congenital heart disease: a review of recent developments. Curr Opin Cardiol 2007, 22:200-206. 10.1097/HCO.0b013e3280f629c7, 17413276.
3. Jing-Bin H, Ying-Long L, Pei-Wu S, Xiao-Dong L, Ming D, Xiang-Ming F. Molecular mechanisms of congenital heart disease. Cardiovasc Pathol Corrected Proof, Available online 10 September 2009.
4. Nemer M. Genetic insights into normal and abnormal heart development. Cardiovasc Pathol 2008, 17:48-54. 10.1016/j.carpath.2007.06.005, 18160060.
5. Samánek M, Slavík Z, Zborilová B, Hrobonová V, Vorísková M, Skovránek J. Prevalence, treatment, and outcome of heart disease in live-born children: a prospective analysis of 91,823 live-born children. Pediatr Cardiol 1989, 10:205-211. 10.1007/BF02083294, 2687820.
6. Martins P, Cautela P. Transposition of the great arteries. Orphanet J Rare Dis 2008, 3:27. 10.1186/1750-1172-3-27, 2577629, 18851735.
7. Digilio MC, Casey B, Toscano A, Calabrò R, Pacileo G, Marasini M, Banaudi E, Giannotti A, Dallapiccola B, Marino B. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation 2001, 104:2809-2814. 10.1161/hc4701.099786, 11733399.
8. Mégarbané A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 2000, 8:704-708. 10.1038/sj.ejhg.5200526, 10980576.
9. Bamford RN, Roessler E, Burdine RD, Saplakoǧlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000, 26:365-369. 10.1038/81695, 11062482.
10. Muncke N, Jung C, Rüdiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schön K, Rappold G. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 2003, 108:2843-2850. 10.1161/01.CIR.0000103684.77636.CD, 14638541.
11. Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 2007, 81:987-994. 10.1086/522890, 2265655, 17924340.
12. Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M. Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet 2008, 83:18-29. 10.1016/j.ajhg.2008.05.012, 2443854, 18538293.
13. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 2009, 18:861-871. 2722226, 19064609.
14. De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B. Familial transposition of great arteries caused by multiple mutations in laterality genes. Heart 2009, 96:673-677. 10.1136/hrt.2009.181685, 19933292.
15. Marino B, Digilio MC, Versacci P, Anaclerio S, Dallapiccola B. Transposition of great arteries. Understanding its pathogenesis. Ital Heart J Suppl 2002, 3:154-160.
16. Brown V, Jin P, Ceman S, Darnell JC, O'Donnell WT, Tenenbaum SA, Jin X, Feng Y, Wilkinson KD, Keene JD, Darnell RB, Warren ST. Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell 2001, 107:477-487. 10.1016/S0092-8674(01)00568-2, 11719188.
17. Amati F, Biancolella M, D'Apice MR, Gambardella S, Mango R, Sbraccia P, D'Adamo M, Margiotti K, Nardone A, Lewis M, Novelli G. Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. Gene Expr 2004, 12:39-47. 10.3727/000000004783992189, 15473259.
18. Sharma HS, Peters TH, Moorhouse MJ, van der Spek PJ, Bogers AJ. DNA microarray analysis for human congenital heart disease. Cell Biochem Biophys 2006, 44:1-9. 10.1385/CBB:44:1:001, 16456230.
19. Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet 2007, 16:1682-1698. 10.1093/hmg/ddm116, 17519220.
20. Amati F, Chillemi G, Novelli G. Gene Expression Analysis during Development by High-Throughput Methods. Developmental gene expression regulation 2009, 189-214. Nova Science Publishers.
21. Cipollone D, Amati F, Carsetti R, Placidi S, Biancolella M, D'Amati G, Novelli G, Siracusa G, Marino B. A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice. Cardiovasc Pathol 2006, 15:194-202. 10.1016/j.carpath.2006.04.004, 16844550.
22. Cipollone D, Carsetti R, Tagliani A, Rosado MM, Borgiani P, Novelli G, D'Amati G, Fumagalli L, Marino B, Businaro R. Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice. Cardiovasc Pathol 2009, 18:100-109. 10.1016/j.carpath.2008.02.007, 18417366.
23. Géhin M, Vivat V, Wurtz JM, Losson R, Chambon P, Moras D, Gronemeyer H. Structural basis for engineering of retinoic acid receptor isotype-selective agonists and antagonists. Chem Biol 1999, 6:519-529. 10.1016/S1074-5521(99)80084-2, 10421757.
24. Scharpf RB, Iacobuzio-Donahue CA, Sneddon JB, Parmigiani G. When should one subtract background fluorescence in 2-color microarrays?. Biostatistics 2007, 8:695-707. 10.1093/biostatistics/kxl041, 17164465.
25. Yang YH, Dudoit S, Luu P, Lin DM, Peng V, Ngai J, Speed TP. Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation. Nucleic Acids Res 2002, 30:e15. 10.1093/nar/30.4.e15, 100354, 11842121.
26. Fang Y, Brass A, Hoyle DC, Hayes A, Bashein A, Oliver SG, Waddington D, Rattray M. A model-based analysis of microarray experimental error and normalisation. Nucleic Acids Res 2003, 31:e96. 10.1093/nar/gng097, 169988, 12907748.
27. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J Roy Statist Soc Ser B 1995, 57:289-300.
28. Zechel C, Shen XQ, Chambon P, Gronemeyer H. Dimerization interfaces formed between the DNA binding domains determine the cooperative binding of RXR/RAR and RXR/TR heterodimers to DR5 and DR4 elements. EMBO J 1994, 13:1414-1424. 394959, 8137825.
29. Zechel C, Shen XQ, Chen JY, Chen ZP, Chambon P, Gronemeyer H. The dimerization interfaces formed between the DNA binding domains of RXR, RAR and TR determine the binding specificity and polarity of the full-length receptors to direct repeats. EMBO J 1994, 13:1425-1433. 394960, 8137826.
30. Luo G, Gu YZ, Jain S, Chan WK, Carr KM, Hogenesch JB, Bradfield CA. Molecular characterization of the murine Hif-1 alpha locus. Gene Expr 1997, 6:287-299.
31. Weninger WJ, Lopes Floro K, Bennett MB, Withington SL, Preis JI, Barbera JP, Mohun TJ, Dunwoodie SL. Cited2 is required both for heart morphogenesis and establishment of the left-right axis in mouse development. Development 2005, 132:1337-1348. 10.1242/dev.01696, 15750185.
32. Bouman HG, Broekhuizen ML, Baasten AM, Gittenberger-De Groot AC, Wenink AC. Spectrum of looping disturbances in stage 34 chicken hearts after retinoic acid treatment. Anat Rec 1995, 243:101-108. 10.1002/ar.1092430112, 8540624.
33. Chazaud C, Chambon P, Dollé P. Retinoic acid is required in the mouse embryo for left-right asymmetry determination and heart morphogenesis. Development 1999, 126:2589-2596.
34. Rosenthal N, Xavier-Neto J. From the bottom of the heart: anteroposterior decisions in cardiac muscle differentiation. Curr Opin Cell Biol 2000, 12:742-746. 10.1016/S0955-0674(00)00162-9, 11063942.
35. Pan J, Baker KM. Retinoic acid and the heart. Vitam Horm 2007, 75:257-283. full_text, 17368319.
36. Compernolle V, Brusselmans K, Franco D, Moorman A, Dewerchin M, Collen D, Carmeliet P. Cardia bifida, defective heart development and abnormal neural crest migration in embryos lacking hypoxia-inducible factor-1alpha. Cardiovasc Res 2003, 60:569-579. 10.1016/j.cardiores.2003.07.003, 14659802.
37. Krishnan J, Ahuja P, Bodenmann S, Knapik D, Perriard E, Krek W, Perriard JC. Essential role of developmentally activated hypoxia-Inducible factor 1α for cardiac morphogenesis and function. Circ Res 2008, 103:1139-1146. 10.1161/01.RES.0000338613.89841.c1, 18849322.
38. Bhattacharya S, Michels CL, Leung MK, Arany ZP, Kung AL, Livingston DM. Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1. Genes Dev 1999, 13:64-75. 10.1101/gad.13.1.64, 316375, 9887100.
39. Bamforth SD, Bragança J, Farthing CR, Schneider JE, Broadbent C, Michell AC, Clarke K, Neubauer S, Norris D, Brown NA, Anderson RH, Bhattacharya S. Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway. Nat Genet 2004, 36:1189-1196. 10.1038/ng1446, 15475956.
40. Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum Mutat 2005, 26:575-582. 10.1002/humu.20262, 16287139.
41. Shin DH, Li SH, Chun YS, Huang LE, Kim MS, Park JW. CITED2 mediates the paradoxical responses of HIF-1a to proteasome inhibition. Oncogene 2008, 27:1939-1944. 10.1038/sj.onc.1210826, 17906695.
42. Freedman SJ, Sun ZY, Kung AL, France DS, Wagner G, Eck MJ. Structural basis for negative regulation of hypoxia-inducible factor-1alpha by CITED2. Nat Struct Biol 2003, 10:504-12. 10.1038/nsb936, 12778114.
43. Poon E, Harris AL, Ashcroft M. Targeting the hypoxia-inducible factor (HIF) pathway in cancer. Expert Rev Mol Med 2009, 11:e26. 10.1017/S1462399409001173, 19709449.
44. Semenza GL, Agani F, Feldser D, Iyer N, Kotch L, Laughner E, Yu A. Hypoxia, HIF-1, and the pathophysiology of common human diseases. Adv Exp Med Biol 2000, 475:123-130. full_text, 10849654.
45. Yasui H, Morishima M, Nakazawa M, Aikawa E. Anomalous looping, atrioventricular cushion dysplasia, and unilateral ventricular hypoplasia in the mouse embryos with right isomerism induced by retinoic acid. Anat Rec 1998, 250:210-219. 10.1002/(SICI)1097-0185(199802)250:2<210::AID-AR11>3.0.CO;2-R, 9489782.
46. Yasui H, Nakazawa M, Morishima M, Miyagawa-Tomita S, Momma K. Morphological observations on the pathogenetic process of transposition of the great arteries induced by retinoic acid in mice. Circulation 1995, 91:2478-2486.
47. Licht AH, Müller-Holtkamp F, Flamme I, Breier G. Inhibition of hypoxia-inducible factor activity in endothelial cells disrupts embryonic cardiovascular development. Blood 2006, 107:584-590. 10.1182/blood-2005-07-3033, 16189264.
48. Moss JB, Xavier-Neto J, Shapiro MD, Nayeem SM, McCaffery P, Dräger UC, Rosenthal N. Dynamic patterns of retinoic acid synthesis and response in the developing mammalian heart. Dev Biol 1998, 199:55-71. 10.1006/dbio.1998.8911, 9676192.
49. Zhang J, Song LP, Huang Y, Zhao Q, Zhao KW, Chen GQ. Accumulation of hypoxia inducible factor-1α protein and its role in the differentiation of myeloid leukemic cells induced by all-trans retinoic acid. Haematologica 2008, 93:1480-1487. 10.3324/haematol.13096, 18728026.
50. Mader S, Chen JY, Chen Z, White J, Chambon P, Gronemeyer H. The patterns of binding of RAR, RXR and TR homo- and heterodimers to direct repeats are dictated by the binding specificites of the DNA binding domains. EMBO J 1993, 12:5029-5041. 413763, 8262045.
51. Ifergan I, Assaraf YG. Molecular mechanisms of adaptation to folate deficiency. Vitam Horm 2008, 79:99-143. 10.1016/S0083-6729(08)00404-4, 18804693.
52. Botto LD, Mulinare J, Erickson JD. Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps. Am J Med Genet A 2003, 121A:95-101. 10.1002/ajmg.a.20132, 12910485.
53. Li D, Rozen R. Maternal folate deficiency affects proliferation, but not apoptosis, in embryonic mouse heart. J Nutr 2006, 136:1774-1778.
54. Nafee T, Farrell W, Carroll W, Fryer A, Ismail K. Epigenetic control of fetal gene expression. BJOG 2008, 115:158-168.
55. Sperling S. Array analysis applied to malformed hearts: Molecular dissection of tetralogy of Fallot. Methods Mol Med 2006, 126:233-246.