Brain development is a multi-level regulated process - The case of the OTX2 gene

Pediatric Endocrinology Reviews

Volumn 9, Issue 1, 2011, Pages 422-430

  Gat Yablonski, Galia ^a,b  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Brain development; OTX2

Indexed keywords

BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; HISTONE ACETYLTRANSFERASE; HISTONE DEACETYLASE; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; RNA; TRANSCRIPTION FACTOR OTX2; OTX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR OTX;

ANOPHTHALMIA; BRAIN DEVELOPMENT; BRAIN REGION; BRAIN TUMOR; CELL DIFFERENTIATION; CENTRAL NERVOUS SYSTEM DISEASE; COMBINED PITUITARY HORMONE DEFICIENCY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EYE DEVELOPMENT; EYE DISEASE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HYPOPHYSIS DISEASE; IN VITRO STUDY; IN VIVO STUDY; LOSS OF FUNCTION MUTATION; MEDULLOBLASTOMA; NERVE CELL PLASTICITY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PROTEIN BINDING; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RECEPTOR UPREGULATION; REVIEW; RISK FACTOR; SEIZURE; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; XENOPUS; ANIMAL; BIOLOGICAL MODEL; BRAIN; CHILD; EMBRYO DEVELOPMENT; EYE; GENE EXPRESSION REGULATION; GENETIC HETEROGENEITY; GENETICS; GROWTH, DEVELOPMENT AND AGING; METABOLISM; PHYSIOLOGY; PRENATAL DEVELOPMENT; SIGNAL TRANSDUCTION;

ANIMALS; BRAIN; CHILD; EMBRYONIC DEVELOPMENT; EYE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HUMANS; MODELS, BIOLOGICAL; OTX TRANSCRIPTION FACTORS; SIGNAL TRANSDUCTION;

EID: 84864395211     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (66)

1. Finkelstein R & Perrimon N. The orthodenticle gene is regulated by bicoid and torso and specifies Drosophila head development. Nature 1990;346:485-488
2. Blitz IL & Cho KW. Anterior neurectoderm is progressively induced during gastrulation: the role of the Xenopus homeobox gene orthodentide Development 1995;121:993-1004
3. Pannese M, Polo C, Andreazzoli M, Vignali R, Kablar B, Barsacchi G & Boncinelli E. The Xenopus homologue of Otx2 is a maternal homeobox gene that demarcates and specifies anterior body regions. Development 1995;121:707-720
4. Acampora D, Mazan S, Lallemand Y, Avantaggiato V, Maury M, Simeone A & Brulet P. Forebrain and midbrain regions are deleted in Otx2-/- mutants due to a defective anterior neuroectoderm specification during gastrulation Development 1995;121:3279-3290
5. Matsuo I, Kuratani S, Kimura C, Takeda N & Aizawa S. Mouse Otx2 functions in the formation and patterning of rostral head. Genes Dev 1995;9:2646-2658
6. Ang SL, Jin O, Rhinn M, Daigle N, Stevenson L & Rossant J. A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain. Development 1996;122:243-252 (Pubitemid 26038436)
7. Boyl PP, Signore M, Acampora D, Martinez-Barbera JP, llengo C, Annino A, Corte G & Simeone A. Forebrain and midbrain development requires epiblast-restricted Otx2 translational control mediated by its 3′ UTR Development 2001;128:2989-3000
8. Simeone A. Otx1 and Otx2 in the development and evolution of the mammalian brain. EMBO J 1998;17:6790-6798 (Pubitemid 28550272)
9. Ang SL, Conlon RA, Jin O & Rossant J. Positive and negative signals from mesoderm regulate the expression of mouse Otx2 in ectoderm explants. Development 1994;120:2979-2989 (Pubitemid 24312065)
10. Simeone A, Gulisano M, Acampora D, Stornaiuolo A, Rambaldi M & Boncinelli E. Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex. EMBO J.1992;11:2541-2550
11. Simeone A, Acampora D, Mallamaci A, Stornaiuolo A, D'Apice MR, Nigra V & Boncinelli E. A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. EMBO J 1993;12:2735-2747 (Pubitemid 23218323)
12. Acampora D, Avantaggiato V, Tuorto F, Briata P, Corte G & Simeone A. Visceral endoderm-restricted translation of Otx1 mediates recovery of Otx2 requirements for specification of anterior neural plate and normal gastrulation. Development 1998;125:5091-5104 (Pubitemid 29026789)
13. Wassarman KM, Lewandoski M, Campbell K, Joyner AL, Rubenstein JL, Martinez S Martin GR. Specification of the anterior hindbrain and establishment of a normal mid/hindbrain organizer is dependent on Gbx2 gene function. Development 1997;124:2923-2934 (Pubitemid 27370908)
14. Millet S, Campbell K, Epstein DJ, Losos K, Harris E & Joyner AL. A role for Gbx2 in repression of Otx2 and positioning the mid/hindbrain organizer. Nature 1999;401:161-164 (Pubitemid 29436318)
15. Sugiyama S, Prochiantz A & Hensch TK. From brain formation to plasticity: insights on Otx2 homeoprotein. Dev Growth Differ 2009;51:369-377
16. Morgan R, Hooiveld MH, Pannese M, Dati G, Broders F, Delarue M, Thiery JP, Boncinelli E & Durston AJ. Calponin modutates the exclusion of Otx-expressing cells from convergence extension movements. Nat Cell Biol1999;1:404-408 (Pubitemid 129502806)
17. Acampora D, Avantaggiato V, Tuorto F, Barone P, Perera M, Choo D, Wu D, Corte G & Simeone A. Differential transcriptional control as the major molecular event in generating Otx1-/- and Otx2-/- divergent phenotypes. Development 1999;126:1417-1426 (Pubitemid 29195231)
18. Martinez-Morales JR, Signore M, Acampora D, Simeone A & Bovolenta P. Otx genes are required for tissue specification in the developing eye. Development 2001;128:2019-2030 (Pubitemid 32600465)
19. Martinez-Morales JR, Dolez V, Rodrigo I, Zaccarini R, Leconte L,Bovolenta P & Saule S. OTX2 activates the molecular network underlying retina pigment epithelium differentiation. J Biol Chem 2003 278 21721-21731 (Pubitemid 36792575)
20. Nishida A, Furukawa A, Koike C, Tano Y, Aizawa S, Matsuo I & Furukawa T. Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development. Nat Neurosci 2003;6:1255-1263 (Pubitemid 37485118)
21. Koike C, Nishida A, Ueno S, Saito H, Sanuki R, Sato S, Furukawa A, Aizawa S, Matsuo I, Suzuki N, Kondo M & Furukawa T. Functional roles of Otx2 transcription factor in postnatal mouse retinal development. Mol Cell Biol 2007;27:8318-8329 (Pubitemid 350234243)
22. Kim DS, Matsuda T & Cepko CL. A core paired-type and POU homeodomain-containing transcription factor program drives retinal bipolar cell gene expression. J Neurosci 2008;28:7748-7764
23. Beby F, Housset M, Fossat N, Le Greneur C, Flamant F, Godement P & Lamonerie T. Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degeneration. PLoS One 2010;5:11673
24. Fuse N, Yasumoto K, Takeda K, Amae S, Yoshizawa M, Udono T, Takahashi K, Tamai M, Tomita Y, Tachibana M & Shibahara S. Molecular cloning of cDNA encoding a novel microphthalmia-associated transcriptionf actor isoform with a distinct amino-terminus. J Biochem 1999;126:1043-1051 (Pubitemid 30014450)
25. Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A & Boncinelli E. Chromosome locations of human EMX and OTX genes. Genomics 1994;22:41-45 (Pubitemid 24234086)
26. Chatelain G, Fossat N, Brun G & Lamonerie T. Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants. J Mol Med 2006;84:604-615 (Pubitemid 43992852)
27. Fossat N, Courtois V, Chatelain G, Brun G & Lamonerie T. Alternative usage of Otx2 promoters during mouse development. Dev Dyn 2005;233:154-160 (Pubitemid 40548034)
28. Kurokawa D, Kiyonari H, Nakayama R, Kimura-Yoshida C, Matsuo I & Aizawa S. Regulation of Otx2 expression and its functions in mouse forebrain and midbrain. Development 2004;131:3319-3331 (Pubitemid 39139879)
29. Kurokawa D, Takasaki N, Kiyonari H, Nakayama R, Kimura-Yoshida C, Matsuo I & Aizawa S. Regulation of Otx2 expression and its functions in mouse epiblast and anterior neuroectoderm. Development 2004;131:3307-3317 (Pubitemid 39139878)
30. Holness MJ, Caton PW & Sugden MC. Acute and long-term nutrient-led modifications of gene expression: potential role of SIRT1 as a central coordinator of short and longer-term programming of tissue function. Nutrition, 2010;26:491-501
31. Lujambio A. How epigenetics can explain human metastasis: a new role for microRNAs. 2009;8:377-382
32. Haberland M, Mokalled MH, Montgomery RL & Olson EN. Epigenetic control of skull morphogenesis by histone deacetylase 8. Genes Dev 2009;23:1625-1630
33. Chen K & Rajewsky N. The evolution of gene regulation by transcription factors and microRNAs. Nat Rev Genet 2007;8:93-103 (Pubitemid 46122839)
34. Esau C, Kang X, Peralta E, Hanson E, Marcusson EG, Ravichandran LV, Sun Y, Koo S, Perera RJ, Jain R, Dean NM, Freier SM, Bennett CF, Lollo B &Griffey R. MicroRNA-143 regulates adipocyte differentiation. J Biol Chem 2004;279:52361-52365 (Pubitemid 39656612)
35. Lovis P, Roggli E, Laybutt DR, Gattesco S, Yang JY, Widmann C, Abderrahmani A & Regazzi R. Alterations in microRNA expression contribute to fatty acid-induced pancreatic beta-cell dysfunction. Diabetes 2008;57:2728-2736
36. Krutzfeldt J & Stoffel M. MicroRNAs: a new class of regulatory genes affecting metabolism. Cell Metab 2006;4:9-12 (Pubitemid 43942256)
37. McManus MT. MicroRNAs and cancer. Semin Cancer Biol 2003;13:253-258 (Pubitemid 38160916)
38. Wang E. MicroRNA, the putative molecular control for mid-life decline Aging Res Rev 2007;6:1-11
39. Baltimore D, Boldin MP, O'Connell RM, Rao DS & Taganov KD. MicroRNAs: new regulators of immune cell development and function. Nat Immunol 2008;9:839-845 (Pubitemid 352038302)
40. Kim J, Inoue K, Ishii J, Vanti WB, Voronov SV, Murchison E, Hannon G & Abeliovich A. A MicroRNA feedback circuit in midbrain dopamine neurons. Science 2007;317:1220-1224
41. Decembrini S, Bressan D, Vignali R, Pitto L, Mariotti S, Rainaldi G, Wang X, Evangelista M, Barsacchi G & Cremisi F. MicroRNAs couple cell fate and developmental timing in retina. Proc Natl Acad Sci U S A 2009;106:21179-21184
42. Qiu R, Liu K, Liu Y, Mo W, Flynt AS, Patton JG, Kar A, Wu JY & He R. The role of miR-124a in early development of the Xenopus eye. Mech Dev 2009;126:804-816
43. Hide T, Hatakeyama J, Kimura-Yoshida C, Tian E, Takeda N, Ushio Y, Shiroishi T, Aizawa S & Matsuo I. Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. Development 2002;129:4347-4357
44. Hever AM, Williamson KA & van Heyningen V. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.Clin Genet 2006;69:459-470
45. Danno H, Michiue T, Hitachi K, Yukita A, Ishiura S & Asashima M.Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. Proc Natl Acad Sci U S A 2008;105:5408-5413 (Pubitemid 351753876)
46. Jin O, Harpal K, Ang SL & Rossant J. Otx2 and HNF3beta genetically interact in anterior patterning. Int J Dev Biol 2001;45:357-365 (Pubitemid 33730609)
47. Nakano T, Murata T, Matsuo I & Aizawa S. OTX2 directly interacts with LIM1 and HNF-3beta. Biochem Biophys Res Commun 2000 267 64-70 (Pubitemid 30072508)
48. Boncinelli E & Morgan R. Downstream of Otx2, or how to get a head Trends Genet 2001;17:633-636 (Pubitemid 32973822)
49. Kelley CG, Lavorgna G, Clark ME, Boncinelli E & Mellon PL. The Otx2 homeoprotein regulates expression from the gonadotropin-releasing hormone proximal promoter. Mol Endocrinol 2000;141:246-1256
50. Dateki S, Fukami M, Sato N, Muroya K, Adachi M & Ogata T.OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. J Clin Endocrinol Metab 2008;93:3697-3702
51. Gherzi R, Briata P, Boncinelli E, Ponassi M, Querze G, Viti F, Corte G & Zardi L. The human homeodomain protein OTX2 binds to the human tenascin-C promoter and trans-represses its activity in transfected cells. DNA Cell Biol 1997;16:559-567 (Pubitemid 27252968)
52. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V & Hanson IM. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 2005;76:1008-1022 (Pubitemid 40705435)
53. Henderson RA, Williamson K, Cumming S, Clarke MP, Lynch SA, Hanson IM, FitzPatrick DR, Sisodiya S & van Heyningen V. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Eur J Hum Genet 2007;15:898-901 (Pubitemid 47109051)
54. Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, FitzPatrick DR, van Heyningen V & Moore AT. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis 2009;15:2442-2447
55. Diaczok D, Romero C, Zunich J, Marshall I & Radovick S. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab 2008;93:4351-4359 (Pubitemid 352789531)
56. Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M & Ogata T. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. J Clin Endocrinol Metab 2010;95:756-764
57. Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D & Ragge N. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat 2008;29:278-283
58. Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K & Fujieda K. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab 2009;94:314-319
59. Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M & Gat-Yablonski G. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. Hum Genet 2010;127:721-729
60. Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z & Zenteno JC Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.Br J Ophthalmol 2010;94:1100-1104
61. Schilter K, Schneider A, Bardakjian T, Soucy JF, Tyler R, Reis L & Semina E. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet 2011;79:158-168
62. Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tarn P, Billson F, Grigg J, Peters G & Jamieson RV. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A 2006;140:1711-1718 (Pubitemid 44148231)
63. Kimura-Yoshida C, Kitajima K, Oda-Ishii I, Tian E, Suzuki M, Yamamoto M, Suzuki T, Kobayashi M, Aizawa S & Matsuo I. Characterization of the pufferfish Otx2 cis-regulators reveals evolutionarily conserved genetic mechanisms for vertebrate head specification. Development 2004;131:57-71 (Pubitemid 38111415)
64. Sabunciyan S, Yolken R, Ragan CM, Potash JB, Nimgaonkar VL, Dickerson F, Llenos IC & Weis S. Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2007;144:1083-1086
65. Clotman F, Van Maele-Fabry G & Picard JJ. Retinoic acid induces a tissue-specific deletion in the expression domain of Otx2. Neurotoxicol Teratol 1997;19:163-169 (Pubitemid 27264801)
66. Di C, Liao S, Adamson DC, Parrett TJ, Broderick DK, Shi Q, Lengauer C, Cummins JM, Velculescu VE, Fults DW, McLendon RE, Bigner DD & Yan. Identification of OTX2 as a medulloblastoma oncogene whose product can be targeted by all-trans retinoic acid. Cancer Res 2005;65:919-924