The role of SOX proteins in normal pituitary development

Journal of Endocrinology

Volumn 200, Issue 3, 2009, Pages 245-258

  Alatzoglou, Kyriaki S ^a   Kelberman, Daniel ^a   Dattani, Mehul T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; NOTCH1 RECEPTOR; TRANSCRIPTION FACTOR LHX3; TRANSCRIPTION FACTOR NKX2.2; TRANSCRIPTION FACTOR POU; TRANSCRIPTION FACTOR SOX1; TRANSCRIPTION FACTOR SOX2; TRANSCRIPTION FACTOR SOX3;

BINDING AFFINITY; DIENCEPHALON; DOWN REGULATION; ENDOCRINE GLAND; GENE DISRUPTION; GENE MUTATION; HUMAN; HYPOTHALAMUS HYPOPHYSIS SYSTEM; NONHUMAN; ORGANOGENESIS; PHENOTYPE; PITUITARY DEVELOPMENT; PLASTICITY; PRIMORDIUM; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MICE; PITUITARY GLAND; SOX TRANSCRIPTION FACTORS;

EID: 67449111200     PISSN: 00220795     EISSN: 14796805     Source Type: Journal    
DOI: 10.1677/JOE-08-0447     Document Type: Review

References (136)

1. Ambrosetti DC, Basilico C & Dailey L 1997 Synergistic activation of the fibroblast growth factor 4 enhancer by Sox2 and Oct-3 depends on protein-protein interactions facilitated by a specific spatial arrangement of factor binding sites. Molecular and Cellular Biology 17 6321-6329.
2. Ambrosetti D, Scholer HR, Dailey L & Basilico C 2000 Modulation of the activity of multiple transcriptional activation domains by the DNA binding domains mediates the synergistic action of Sox2 and Oct-3 on the fibroblast growth factor-4 enhancer. Journal of Biological Chemistry 275 23387-23397.
3. Andersen B & Rosenfeld MG 2001 POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease. Endocrine Reviews 22 2-35.
4. Andoniadou CL, Signore M, Sajedi E, Gaston-Massuet C, Kelberman D, Burns AJ, Itasaki N, Dattani M & Martinez-Barbera JP 2007 Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. Development 134 1499-1508.
5. Avilion AA, Nicolis SK, Pevny LH, Perez L, Vivian N & Lovell-Badge R 2003 Multipotent cell lineages in early mouse development depend on SOX2 function. Genes and Development 17 126-140.
6. Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A et al. 2007 SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. British Journal of Ophthalmology 91 1471-1476.
7. Bani-Yaghoub M, Tremblay RG, Lei JX, Zang D, Zutakowski B, Sandhu JK, Smith B, Ribecco-Lutkiewicz M, Kennedy J, Walker PR et al. 2006 Role of Sox2 in the development of the mouse neocortex. Developmental Biology 291 52-66.
8. Barker N, Hurlstone A, Musisi H, Miles A, Bienz M & Clevers H 2001 The chromatin remodelling factor Brg-1 interacts with beta-catenin to promote target gene activation. EMBO Journal 20 4935-4943.
9. Bergstrom DE, Young M, Albrecht KH & Eicher EM 2000 Related function of mouse SOX3, SOX9, and SRY HMG domains assayed by male sex determination. Genesis 28 111-124.
10. Boer B, Cox JL, Claassen D, Mallanna SK, Desler M & Rizzino A 2009 Regulation of the Nanog gene by both positive and negative cis-regulatory elements in embryonal carcinoma cells and embryonic stem cells. Molecular Reproduction and Development 176 173-182.
11. Bowles J, Schepers G & Koopman P 2000 Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. Developmental Biology 227 239-255.
12. Boyer LA, Lee TI, Cole MF, Johnstone SE, Levine SS, Zucker JP, Guenther MG, Kumar RM, Murray HL, Jenner RG et al. 2005 Core transcriptional regulatory circuitry in human embryonic stem cells. Cell 122 947-956.
13. Brinkmeier ML, Potok MA, Cha KB, Gridley T, Stifani S, Meeldijk J, Clevers H & Camper SA 2003 TCF and Groucho-related genes influence pituitary growth and development. Molecular Endocrinology 17 2152-2161.
14. Brinkmeier ML, Potok MA, Davis SW & Camper SA 2007 TCF4 deficiency expands ventral diencephalon signaling and increases induction of pituitary progenitors. Developmental Biology 311 396-407.
15. Brunelli S, Silva Casey E, Bell D, Harland R & Lovell-Badge R 2003 Expression of Sox3 throughout the developing central nervous system is dependent on the combined action of discrete, evolutionarily conserved regulatory elements. Genesis 36 12-24.
16. Buescher M, Hing FS & Chia W 2002 Formation of neuroblasts in the embryonic central nervous system of Drosophila melanogaster is controlled by SoxNeuro. Development 129 4193-4203.
17. Bylund M, Andersson E, Novitch BG & Muhr J 2003 Vertebrate neurogenesis is counteracted by Sox1-3 activity. Nature Neuroscience 6 1162-1168.
18. Camper SA 2004 Sox3 and sexual dysfunction: it's in the head. Nature Genetics 36 217-219.
19. Cavallaro M, Mariani J, Lancini C, Latorre E, Caccia R, Gullo F, Valotta M, DeBiasi S, Spinardi L, Ronchi A et al. 2008 Impaired generation of mature neurons by neural stem cells from hypomorphic Sox2 mutants. Development 135 541-557.
20. Cha KB, Douglas KR, Potok MA, Liang H, Jones SN & Camper SA 2004 WNT5A signaling affects pituitary gland shape. Mechanisms of Development 121 183-194.
21. Chakravarthy H, Boer B, Desler M, Mallanna SK, McKeithan TW & Rizzino A 2008 Identification of DPPA4 and other genes as putative Sox2:Oct-3/4 target genes using a combination of in silico analysis and transcription-based assays. Journal of Cellular Physiology 216 651-662.
22. Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A & Calvas P 2007 Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. American Journal of Medical Genetics. Part A 143 289-291.
23. Chew JL, Loh YH, Zhang W, Chen X, tam WL, Yeap LS, Ang YS, Lim B, Robson P & Ng HH 2005 Reciprocal transcriptional regulation of Pou5f1 and Sox2 via the Oct4/Sox2 complex in embryonic stem cells. Molecular and Cellular Biology 25 6031-6046.
24. Clevers H 2006 Wnt/beta-catenin signaling in development and disease. Cell 127 469-480.
25. Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN & Lovell-Badge R 1996 A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development 122 509-520.
26. Daniels DL & Weis WI 2005 Beta-catenin directly displaces Groucho/TLE repressors from Tcf/Lef in Wnt-mediated transcription activation. Nature Structural and Molecular Biology 12 364-371.
27. Dasen JS & Rosenfeld MG 2001 Signaling and transcriptional mechanisms in pituitary development. Annual Review of Neuroscience 24 327-355.
28. Dattani MT 2004 Novel insights into the aetiology and pathogenesis of hypopituitarism. Hormone Research 62 1-13.
29. Dattani MT 2005 Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clinical Endocrinology 63 121-130.
30. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC et al. 1998 Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics 19 125-133.
31. Davis SW & Camper SA 2007 Noggin regulates Bmp4 activity during pituitary induction. Developmental Biology 305 145-160.
32. Denny P, Swift S, Brand N, Dabhade N, Barton P & Ashworth A 1992 A conserved family of genes related to the testis determining gene, SRY. Nucleic Acids Research 20 2887.
33. Ekonomou A, Kazanis I, Malas S, Wood H, Alifragis P, Denaxa M, Karagogeos D, Constanti A, Lovell-Badge R & Episkopou V 2005 Neuronal migration and ventral subtype identity in the telencephalon depend on SOX1. PLoS Biology 3 e186.
34. Ellsworth BS, Butts DL & Camper SA 2008 Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. Developmental Biology 313 118-129.
35. Ericson J, Norlin S, Jessell TM & Edlund T 1998 Integrated FGF and BMP signaling controls the progression of progenitor cell differentiation and the emergence of pattern in the embryonic anterior pituitary. Development 125 1005-1015.
36. Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A et al. 2006 Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. American Journal of Medical Genetics. Part A 140 636-639.
37. Fantes JA, Ragge NK, Lynch SA, McGill N, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson KA, van Heyningen V et al. 2003 Mutations in SOX2 cause anophthalmia. Nature Genetics 33 461-463.
38. Fauquier T, Rizzoti K, Dattani M, Lovell-Badge R & Robinson IC 2008 SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland. PNAS 105 2907-2912.
39. Ferri AL, Cavallaro M, Braida D, Di Cristofano A, Canta A, Vezzani A, Ottolenghi S, Pandolfi PP, Sala M, DeBiasi S et al. 2004 Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain. Development 131 3805-3819.
40. Filali M, Cheng N, Abbott D, Leontiev V & Engelhardt JF 2002 Wnt3A/ beta-catenin signaling induces transcription from the LEF-1 promoter. Journal of Biological Chemistry 277 33398-33410.
41. Foster JW & Graves JA 1994 An SRY-related sequence on the marsupial X chromosome: implications for the evolution of the mammalian testisdetermining gene. PNAS 91 1927-1931.
42. Gonzalez-Martinez D, Hu Y & Bouloux PM 2004 Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. Frontiers in Neuroendocrinology 25 108-130.
43. Gordon MD & Nusse R 2006 Wnt signaling: multiple pathways, multiple receptors, and multiple transcription factors. Journal of Biological Chemistry 281 22429-22433.
44. Graham V, Khudyakov J, Ellis P & Pevny LH 2003 SOX2 functions to maintain neural progenitor identity. Neuron 39 749-765.
45. Grindley JC, Davidson DR & Hill RE 1995 The role of Pax-6 in eye and nasal development. Development 121 1433-1442.
46. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Munsterberg A, Vivian N, Goodfellow P & Lovell-Badge R 1990 A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346 245-250.
47. Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH & Traboulsi EI 2005 SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. American Journal of Medical Genetics 138 95-98.
48. Hamel BC, Smits AP, Otten BJ, van den HB, Ropers HH & Mariman EC 1996 Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. American Journal of Medical Genetics 64 35-41.
49. Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC & Zucchi I 2000 Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics 69 174-181.
50. Hume CR, Bratt DL & Oesterle EC 2007 Expression of LHX3 and SOX2 during mouse inner ear development. Gene Expression Patterns 7 798-807.
51. Inoue M, Kamachi Y, Matsunami H, Imada K, Uchikawa M & Kondoh H 2007 PAX6 and SOX2-dependent regulation of the Sox2 enhancer N-3 involved in embryonic visual system development. Genes to Cells 12 1049-1061.
52. Kamachi Y, Uchikawa M, Collignon J, Lovell-Badge R & Kondoh H 1998 Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction. Development 125 2521-2532.
53. Kamachi Y, Cheah KS & Kondoh H 1999 Mechanism of regulatory target selection by the SOX high-mobility-group domain proteins as revealed by comparison of SOX1/2/3 and SOX9. Molecular and Cellular Biology 19 107-120.
54. Kamachi Y, Uchikawa M & Kondoh H 2000 Pairing SOX off: with partners in the regulation of embryonic development. Trends in Genetics 16 182-187.
55. Kan L, Israena N, Zhang Z, Hu M, Zhao LR, Jalali A, Sahni V & Kessler JA 2004 Sox1 acts through multiple independent pathways to promote neurogenesis. Developmental Biology 269 580-594.
56. Karsten SL, Kudo LC, Jackson R, Sabatti C, Kornblum HI & Geschwind DH 2003 Global analysis of gene expression in neural progenitors reveals specific cell-cycle, signaling, and metabolic networks. Developmental Biology 261 165-182.
57. Kelberman D & Dattani MT 2006 The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Annals of Medicine 38 560-577.
58. Kelberman D & Dattani MT 2007 Hypothalamic and pituitary development: novel insights into the aetiology. European Journal of Endocrinology 157 S3-S14.
59. Kelberman D & Dattani MT 2008 Septo-optic dysplasia - novel insights into the aetiology. Hormone Research 69 257-265.
60. Kelberman D, Rizzoti K, Avilio A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R et al. 2006 Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. Journal of Clinical Investigation 116 2442-2445.
61. Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R et al. 2008 SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development. Journal of Clinical Endocrinology and Metabolism 93 1865-1873.
62. Kiefer JC 2007 Back to basics: Sox genes. Developmental Dynamics 236 2356-2366.
63. Kondoh H, Uchikawa M & Kamachi Y 2004 Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation. International Journal of Developmental Biology 48 819-827.
64. Lagerstrom-Fermer M, Sundvall M, Johnsen E,Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U & Pettersson U 1997 X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. American Journal of Human Genetics 60 910-916.
65. Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP et al. 2002 Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. American Journal of Human Genetics 71 1450-1455.
66. Lefebvre V, Dumitriu B, Penzo-Mendez A, Han Y & Pallavi B 2007 Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors. International Journal of Biochemistry and Cell Biology 39 2195-2214.
67. Levy A 2002 Physiological implications of pituitary trophic activity. Journal of Endocrinology 174 147-155.
68. Mansukhani A, Ambrosetti D, Holmes G, Cornivelli L & Basilico C 2005 Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation. Journal of Cell Biology 168 1065-1076.
69. Mehta A & Dattani MT 2008 Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism. Best Practice and Research. Clinical Endocrinology and Metabolism 22 191-206.
70. Mertin S, McDowall SG & Harley VR 1999 The DNA-binding specificity of SOX9 and other SOX proteins. Nucleic Acids Research 27 1359-1364.
71. Miyagi S, Saito T, Mizutani K, Masuyama N, Gotoh Y, Iwama A, Nakauchi H, Masui S, Niwa H, Nishimoto M et al. 2004 The Sox-2 regulatory regions display their activities in two distinct types of multipotent stem cells. Molecular and Cellular Biology 24 4207-4220.
72. Miyagi S, Masui S, Niwa H, Saito T, Shimazaki T, Okano H, Nishimoto M, Muramatsu M, Iwama A & Okuda A 2008 Consequence of the loss of Sox2 in the developing brain of the mouse. FEBS Letters 582 2811-2815.
73. Nichols J, Zevnik B, Anastassiadis K, Niwa H, Klewe-Nebenius D, Chambers I, Scholer H & Smith A 1998 Formation of pluripotent stem cells in the mammalian embryo depends on the POU transcription factor Oct4. Cell 95 379-391.
74. Nishiguchi S, Wood H, Kondoh H, Lovell-Badge R & Episkopou V 1998 Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice. Genes and Development 12 776-781.
75. Okubo T, Pevny LH & Hogan BL 2006 Sox2 is required for development of taste bud sensory cells. Genes and Development 20 2654-2659.
76. Olson LE, Dasen JS, Ju BG, Tollkuhn J & Rosenfeld MG 2003 Paired-like repression/activation in pituitary development. Recent Progress in Hormone Research 58 249-261.
77. Olson LE, Tollkuhn J, Scafoglio C, Krones A, Zhang J, Ohgi KA, Wu W, Taketo MM, Kemler R, Grosschedl R et al. 2006 Homeodomain-mediated beta-catenin-dependent switching events dictate cell-lineage determination. Cell 125 593-605.
78. Overton PM, Meadows LA, Urban J & Russell S 2002 Evidence for differential and redundant function of the Sox genes Dichaete and SoxN during CNS development in Drosophila. Development 129 4219-4228.
79. Pabst O, Herbrand H & Arnold HH 1998 Nkx2-9 is a novel homeobox transcription factor which demarcates ventral domains in the developing mouse CNS. Mechanisms of Development 73 85-93.
80. Pevny LH & Lovell-Badge R 1997 Sox genes find their feet. Current Opinion in Genetics and Development 7 338-344.
81. Pevny LH & Placzek M 2005 SOX genes and neural progenitor identity. Current Opinion in Neurobiology 15 7-13.
82. Pevny LH, Sockanathan S, Placzek M & Lovell-Badge R 1998 A role for SOX1 in neural determination. Development 125 1967-1978.
83. Potok MA, Cha KB, Hunt A, Brinkmeier ML, Leitges M, Kispert A & Camper SA 2008 WNT signaling affects gene expression in the ventral diencephalon and pituitary gland growth. Developmental Dynamics 237 1006-1020.
84. Que J, Okubo T, Goldenring JR, Nam KT, Kurotani R, Morrisey EE, Taranova O, Pevny LH & Hogan BL 2007 Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. Development 134 2521-2531.
85. Raetzman LT, Ward R & Camper SA 2002 Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia. Development 129 4229-4239.
86. Raetzman LT, Wheeler BS, Ross SA, Thomas PQ & Camper SA 2006 Persistent expression of Notch2 delays gonadotrope differentiation. Molecular Endocrinology 20 2898-2908.
87. Ragge NK, Lorenz B, Schneider A, Bushby K, de SL, de SU, Salt A, Collin JR, Vivian AJ, Free SL et al. 2005 SOX2 anophthalmia syndrome. American Journal of Medical Genetics. Part A 135 1-7.
88. Rajab A, Kelberman D, de Castro SC, Biebermann H, Shaikh H, Pearce K, Hall CM, Shaikh G, Gerrelli D, Grueters A et al. 2008 Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. Human Molecular Genetics 17 2150-2159.
89. Rizzoti K & Lovell-Badge R 2005 Early development of the pituitary gland: induction and shaping of Rathke's pouch. Reviews in Endocrine and Metabolic Disorders 6 161-172.
90. Rizzoti K & Lovell-Badge R 2007 SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis. Development 134 3437-3448.
91. Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC & Lovell-Badge R 2004 SOX3 is required during the formation of the hypothalamo-pituitary axis. Nature Genetics 36 247-255.
92. Rogers CD, Archer TC, Cunningham DD, Grammer TC & Casey EM 2008 Sox3 expression is maintained by FGF signaling and restricted to the neural plate by Vent proteins in the Xenopus embryo. Developmental Biology 313 307-319.
93. Salinas PC & Zou Y 2008 Wnt signaling in neural circuit assembly. Annual Review of Neuroscience 31 339-358.
94. Sasaki F 1988 Changes with age in the number and size of anterior pituitary cells in female mice from suckling to adulthood. Journal of Endocrinology 117 5-10.
95. Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R & Ogata T 2007 Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. European Journal of Endocrinology 156 167-171.
96. Schepers GE, Teasdale RD & Koopman P 2002 Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. Developmental Cell 3 167-170.
97. Schonemann MD, Ryan AK, McEvilly RJ, O'Connell SM, Arias CA, Kalla KA, Li P, Sawchenko PE & Rosenfeld MG 1995 Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2. Genes and Development 9 3122-3135.
98. Scully KM & Rosenfeld MG 2002 Pituitary development: regulatory codes in mammalian organogenesis. Science 295 2231-2235.
99. Sharov AA, Masui S, Sharova LV, Piao Y, Aiba K, Matoba R, Xin L, Niwa H & KO MS 2008 Identification of Pou5f1, Sox2, and Nanog downstream target genes with statistical confidence by applying a novel algorithm to time course microarray and genome-wide chromatin immunoprecipitation data. BMC Genomics 9 269.
100. Sheng HZ & Westphal H 1999 Early steps in pituitary organogenesis. Trends in Genetics 15 236-240.
101. Sheng HZ, Zhadanov AB, Mosinger BJr Jr, Fujii T, Bertuzzi S, Grinberg A, Lee EJ, Huang SP, Mahon KA & Westphal H 1996 Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 272 1004-1007.
102. Sheng HZ, Moriyama K, Yamashita T, Li H, Potter SS, Mahon KA & Westphal H 1997 Multistep control of pituitary organogenesis. Science 278 1809-1812.
103. Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ et al. 2006 Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 47 534-542.
104. Sobrier ML, Attie-Bitach T, Netchine I, Encha-Razavi F, Vekemans M & Amselem S 2004 Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Gene Expression Patterns 5 279-284.
105. Solomon NM, Nouri S, Warne GL, Lagerstrom-Fermer M, Forrest SM & Thomas PQ 2002 Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism. Genomics 79 553-559.
106. Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL et al. 2004 Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. Journal of Medical Genetics 41 669-678.
107. Stevanovic M, Lovell-Badge R, Collignon J & Goodfellow PN 1993 SOX3 is an X-linked gene related to SRY. Human Molecular Genetics 2 2013-2018.
108. Stevanovic M, Zuffardi O, Collignon J, Lovell-Badge R & Goodfellow P 1994 The cDNA sequence and chromosomal location of the human SOX2 gene. Mammalian Genome 5 640-642.
109. Takuma N, Sheng HZ, Furuta Y, Ward JM, Sharma K, Hogan BL, Pfaff SL, Westphal H, Kimura S & Mahon KA 1998 Formation of Rathke's pouch requires dual induction from the diencephalon. Development 125 4835-4840.
110. Tanaka S, Kamachi Y, Tanouchi A, Hamada H, Jing N & Kondoh H 2004 Interplay of SOX and POU factors in regulation of the Nestin gene in neural primordial cells. Molecular and Cellular Biology 24 8834-8846.
111. Taranova OV, Magness ST, Fagan BM, Wu Y, Surzenko N, Hutton SR & Pevny LH 2006 SOX2 is a dose-dependent regulator of retinal neural progenitor competence. Genes and Development 20 1187-1202.
112. Tobet SA, Bless EP & Schwarting GA 2001 Developmental aspect of the gonadotropin-releasing hormone system. Molecular and Cellular Endocrinology 185 173-184.
113. Tomioka M, Nishimoto M, Miyagi S, Katayanagi T, Fukui N, Niwa H, Muramatsu M & Okuda A 2002 Identification of Sox-2 regulatory region which is under the control of Oct-3/4-Sox-2 complex. Nucleic Acids Research 30 3202-3213.
114. Treier M & Rosenfeld MG 1996 The hypothalamic-pituitary axis: co-development of two organs. Current Opinion in Cell Biology 8 833-843.
115. Uchikawa M, Ishida Y, Takemoto T, Kamachi Y & Kondoh H 2003 Functional ana\is of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals. Developmental Cell 4 509-519.
116. Uwanogho D, Rex M, Cartwright EJ, Pearl G, Healy C, Scotting PJ & Sharpe PT 1995 Embryonic expression of the chicken Sox2, Sox3 and Sox11 genes suggests an interactive role in neuronal development. Mechanisms of Development 49 23-36.
117. Valerius MT, Li H, Stock JL, Weinstein M, Kaur S, Singh G & Potter SS 1995 Gsh-1: a novel murine homeobox gene expressed in the central nervous system. Developmental Dynamics 203 337-351.
118. Vankelecom H 2007 Non-hormonal cell types in the pituitary candidating for stem cell. Seminars in Cell and Developmental Biology 18 559-570.
119. Wang TW, Stromberg GP, Whitney JT, Brower NW, Klymkowsky MW & Parent JM 2006 Sox3 expression identifies neural progenitors in persistent neonatal and adult mouse forebrain germinative zones. Journal of Comparative Neurology 497 88-100.
120. Ward RD, Stone BM, Raetzman LT & Camper SA 2006 Cell proliferation and vascularization in mouse models of pituitary hormone deficiency. Molecular Endocrinology 20 1378-1390.
121. Wegner M 1999 From head to toes: the multiple facets of Sox proteins. Nucleic Acids Research 27 1409-1420.
122. Wegner M & Stolt CC 2005 From stem cells to neurons and glia: a Soxist's view of neural development. Trends in Neuroscience 28 583-588.
123. Weiss MA 2001 Floppy SOX: mutual induced fit in hmg (high-mobility group) box-DNA recognition. Molecular Endocrinology 15 353-362.
124. Weiss J, Meeks JJ, Hurley L, Raverot G, Frassetto A & Jameson JL 2003 Sox3 is required for gonadal function, but not sex determination, in males and females. Molecular and Cellular Biology 23 8084-8091.
125. Williamson KA, Hver AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ et al. 2006 Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Human Molecular Genetics 15 1413-1422.
126. Wilson M & Koopman P 2002 Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators. Current Opinion in Genetics & Development 12 441-446.
127. Wood HB & Episkopou V 1999 Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages. Mechanisms of Development 86 197-201.
128. Woods KS, Cundall M, Turton J, Rizzoti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M et al. 2005 Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. American Journal of Human Genetics 76 833-849.
129. Yuan H, Corbi N, Basilico C & Dailey L 1995 Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3. Genes and Development 9 2635-2645.
130. Zappone MV, Galli R, Catena R, Meani N, De BS, Mattei E, Tiveron C, Vescovi AL, Lovell-Badge R, Ottolenghi S et al. 2000 Sox2 regulatory sequences direct expression of a (beta)-geo transgene to telencephalic neural stem cells and precursors of the mouse embryo, revealing regionalization of gene expression in CNS stem cells. Development 127 2367-2382.
131. Zenteno JC, Gascon-Guzman G & Tovilla-Canales JL 2005 Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. Clinical Genetics 68 564-566.
132. Zhao G & Skeath JB 2002 The Sox-domain containing gene Dichaete/ fish-hook acts in concert with vnd and ind to regulate cell fate in the Drosophila neuroectoderm. Development 129 1165-1174.
133. Zhu X, Zhang J, Tollkuhn J, Ohsawa R, Bresnick EH, Guillemot F, Kageyama R & Rosenfeld MG 2006 Sustained Notch signaling in progenitors is required for sequential emergence of distinct cell lineages during organogenesis. Genes and Development 20 2739-2753.
134. Zhu X, Gleiberman AS & Rosenfeld MG 2007a Molecular physiology of pituitary development: signaling and transcriptional networks. Physiological Reviews 87 933-963.
135. Zhu X, Wang J, Ju BG & Rosenfeld MG 2007b Signaling and epigenetic regulation of pituitary development. Current Opinion in Cell Biology 19 605-611.
136. Zorn AM, Barish GD, Williams BO, Lavender P, Klymkowsky MW & Varmus HE 1999 Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin. Molecular Cell 4 487-498.