The role of SOX2 in hypogonadotropic hypogonadism

Sexual Development

Volumn 2, Issue 4-5, 2008, Pages 194-199

  Tziaferi, V ^a   Kelberman, D ^a   Dattani, M T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Hypogonadotropic hypogonadism; Hypothalamo pituitary development; SOX2

Indexed keywords

BETA CATENIN; GONADORELIN; TRANSCRIPTION FACTOR SOX2; WNT PROTEIN;

CELL MIGRATION; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE ASSOCIATION; GENE MUTATION; GONAD DEVELOPMENT; GONADOTROPIN DEFICIENCY; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS HYPOPHYSIS SYSTEM; NERVE CELL DIFFERENTIATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION;

ANIMALS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOGONADISM; MALE; MICE; SOXB1 TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 55749108720     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000152035     Document Type: Conference Paper

References (29)

1. Asteria C, Oliveira JH, Abucham J, Beck-Peccoz P: Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene. Eur J Endocrinol 143:347-352 (2000).
2. Avilion AA, Nicolis SK, Pevny LH, Perez L, Vivian N, Lovell-Badge R: Multipotent cell lineages in early mouse development depend on SOX2 function. Genes Dev 17:126-140 (2003).
3. Brunelli S, Silva Casey E, Bell D, Harland R, Lovell-Badge R: 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 (2003).
4. Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, et al: A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest 112:1192-1201 (2003).
5. Cavallaro M, Mariani J, Lancini C, Latorre E, Caccia R, et al: Impaired generation of mature neurons by neural stem cells from hypomorphic Sox2 mutants. Development 135:541-557 (2008).
6. Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, et al: Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Am J Med Genet A 143:289-291 (2007).
7. Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, et al: A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development 122:509-520 (1996).
8. Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, et al: Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A 140:636-639 (2006).
9. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, et al: Mutations in SOX2 cause anophthalmia. Nat Genet 33:461-463 (2003).
10. Fauquier T, Rizzoti K, Dattani M, Lovell-Badge R, Robinson IC: SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland. Proc Natl Acad Sci USA 105:2907-2912 (2008).
11. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, et al: 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 (1990).
12. Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, et al: SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A 138:95-98 (2005).
13. Kan L, Israsena N, Zhang Z, Hu M, Zhao LR, et al: Sox1 acts through multiple independent pathways to promote neurogenesis. Dev Biol 269:580-594 (2004).
14. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, et al: Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitarygonadal axis in mice and humans. J Clin Invest 116:2442-2455 (2006).
15. Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, et al: SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development. J Clin Endocrinol Metab 93:1865-1873 (2008).
16. Kiefer JC: Back to basics: Sox genes. Dev Dyn 236:2356-2366 (2007).
17. Kondoh H, Uchikawa M, Kamachi Y: Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation. Int J Dev Biol 48:819-827 (2004).
18. Lefebvre V, Dumitriu B, Penzo-Mendez A, Han Y, Pallavi B: Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors. Int J Biochem Cell Biol 39:2195-2214 (2007).
19. Mansukhani A, Ambrosetti D, Holmes G, Cornivelli L, Basilico C: Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation. J Cell Biol 168:1065-1076 (2005).
20. Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ: Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. J Clin Endocrinol Metab 84:942-945 (1999).
21. Pernasetti F, Toledo SP, Vasilyev VV, Hayashida CY, Cogan JD, et al: Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. J Clin Endocrinol Metab 85:390-397 (2000).
22. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, et al: SOX2 anophthalmia syndrome. Am J Med Genet A 135:1-7; discussion 8 (2005).
23. Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, et al: Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. Eur J Endocrinol 156:167-171 (2007).
24. Tobet SA, Bless EP, Schwarting GA: Developmental aspect of the gonadotropin-releasing hormone system. Mol Cell Endocrinol 185:173-184 (2001).
25. Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, et al: Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 15:1413-1422 (2006).
26. Wood HB, Episkopou V: Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages. Mech Dev 86:197-201 (1999).
27. Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, et al: Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 76:833-849 (2005).
28. Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL: Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. Clin Genet 68:564-566 (2005).
29. Zorn AM, Barish GD, Williams BO, Lavender P, Klymkowsky MW, Varmus HE: Regulation of Wnt signaling by Sox proteins: XSox17 alpha/ beta and XSox3 physically interact with beta-catenin. Mol Cell 4:487-498 (1999).