Mouse knockout solves endocrine puzzle and promotes new pituitary lineage model

Genes and Development

Volumn 17, Issue 6, 2003, Pages 677-682

  Keegan, Catherine E ^a   Camper, Sally A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; CELL DIFFERENTIATION; CELL LINE; ENDOCRINE FUNCTION; GENE EXPRESSION REGULATION; GENETIC ENGINEERING; KNOCKOUT MOUSE; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; REVIEW;

ANIMALS; CELL LINEAGE; ENDOCRINE SYSTEM; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HOMEODOMAIN PROTEINS; HUMANS; HYPERPLASIA; KIDNEY; MICE; MICE, KNOCKOUT; MUTATION; TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 0037444226     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.1085903     Document Type: Review

References (80)

1. Achermann, J.C., Ito, M., Ito, M., Hindmarsh, P.C., and Jameson, J.L. 1999. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat. Genet. 99: 125-126.
2. Achermann, J.C., Ozisik, G., Ito, M., Orun, U.A., Harmanci, K., Gurakan, B., and Jameson, J.L. 2002. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor, steroidogenic factor-1, in a dose dependent manner. J. Clin. Endocrinol. Metab. 87: 1829-1833.
3. Amendt, B.A., Sutherland, L.B., and Russo, A.F. 1999. Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. Mol. Cell. Biol. 19: 7001-7010.
4. Anderson, B., Pearse II, R.V., Jenne, K., Sornson, M., Lin, S.-C., Bartke, A., and Rosenfeld, M.G. 1995. The Ames dwarf gene is required for Pit-1 gene activation. Dev. Biol. 179: 495-503.
5. Beamer, W.G., Sweet, H.O., Bronson, R.T., Shire, J.G., Orth, D.N., and Davisson, M.T. 1994. Adrenocortical dysplasia: A mouse model system for adrenocortical insufficiency. J. Endocrinol. 141: 33-43.
6. Biason-Lauber, A. and Schoenle, E.J. 2000. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am. J. Hum. Genet. 67: 1563-1568.
7. Burke, B.A., Wick, M.R., King, R., Thompson, T., Hansen, J., Darrae, B.T., Francke, U., Seltzer, W.K., McCabe, E.R., and Scheithaue, R.B.W. 1988. Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: A new autosomal recessive syndrome. Am. J. Med. Genet. 31: 75-97.
8. Burrows, H.L., Douglas, K.R., Seasholtz, A.F., and Camper, S.A. 1999. Genealogy of the anterior pituitary gland: Tracing a family tree. Trends Endocrinol. Metab. 10: 343-352.
9. Carlson, H., Ota, S., Song, Y., Chen, Y., and Hurlin, P.J. 2002. Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. Oncogene 21: 3827-3835.
10. Carsner, R. and Rennels, E. 1960. Primary site of gene action in anterior pituitary dwarf mice. Science 131: 829.
11. Childs, G.V., Vestlund, K.N., and Unabia, G. 1989. Characterization of anterior pituitary target cells for arginine vasopressin: Including cells that store adrenocorticotrophin, thyrotrophin, and both hormones. Endocrinology 125: 554-559.
12. Cogan, J., Wu, W., Phillips, J.I., Amhold, I., Agapito, A., Fofanova, O., Osorio, M., Bircan, I., Moreno, A., and Mendonca, B. 1998. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J. Clin. Endocrinol. Metab. 83: 3346-3349.
13. Crawford, P.A., Sadovsky, Y., Woodson, K., Lee, S.L., and Milbrandt, J. 1995. Adrenocortical function and regulation of the steroid 21-hydroxylase gene in NGFI-B-deficient mice. Mol. Cell. Biol. 15: 4331-4336.
14. Dasen, J.S., O'Connell, S.M., Flynn, S.E., Treier, M., Gleiberman, A.S., Szeto, D.P., Hooshmand, F., Aggrawal, A.K., and Rosenfeld, M.G. 1999. Reciprocal interactions of Pitl and GATA2 mediate signaling gradient-induced determination of pituitary cell types. Cell 97: 587-598.
15. Dattani, M.T., Martinez-Barbera, J.-P., Thomas, P.Q., Brickman, J.M., Gupta, R., Mårtensson, I.-L., Toresson, H., Fox, M., Wales, J.K.H., Hindmarsh, P.C., et al. 1998. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat. Genet. 19: 125-133.
16. Dechelotte, P., Darcha, C., Labbe, A., Vanlieferinghen, P., Beaufrere, A.M., and Malpuech, G. 1994. Congenital adrenal hypoplasia due to isolated familial ACTH deficiency. Pediatr. Pathol. 14: 377-380.
17. Drouin, J. and Goodman, H.M. 1980. Most of the coding region of rat ACTH β-LPH precursor gene lacks intervening sequences. Nature 288: 610-613.
18. Ericson, J., Norlin, S., Jessell, T.M., and 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.
19. Estivariz, F.E., Iturriza, F., McLean, C., Hope, J., and Lowry, P.J. 1982. Stimulation of adrenal mitogenesis by N-terminal proopiocortin peptides. Nature 297: 419-422.
20. Firnberg, N. and Neubuser, A. 2002. FGF signaling regulates expression of Tbx2, Erm, Pea3, and Pax3 in the early nasal region. Dev. Biol. 247: 237-250.
21. Gage, P.J., Brinkmeier, M.L., Scarlett, L.M., Knapp, L.T., Camper, S.A., and Mahon, K.A. 1996. The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage specific cell proliferation. Mol. Endocrin. 10: 1570-1581.
22. Gibert, Y. and Begemann, G. 2003. Variations on a 'T': Orchestration of T-box signalling in development. Trends Genet. 18: 615-616.
23. Girod, C., Dubois, M.P., and Trouillas, J. 1982. Immunocytochemical study of Wulzen's cone of the bovine pituitary. Cell Tissue Res. 227: 55-65.
24. Goksu, N., Caglar, M., Tuncer, M., and Senocak, M.E. 1982. A case of congenital adrenal hypoplasia and review of the literature. Turk. J. Pediatr. 24: 103-108.
25. Ikeda, Y., Luo, X., Abbud, R., Nilson, J.H., and Parker, K.L. 1995. The nuclear receptor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus. Mol. Endocrinol. 9: 478-486.
26. Keegan, C.E. and Hammer, G.D. 2002. Recent insights into organogenesis of the adrenal cortex. Trends Endocrinol. Metab. 13: 200-208.
27. Krude, H. and Gruters, A. 2000. Implications of proopiomelanocortin (POMC) mutations in humans: The POMC deficiency syndrome. Trends Endocrinol. Metab. 11: 15-22.
28. Krude, H., Biebermann, H., Luck, W., Horn, R., Brabant, G., and Gruters, A. 1998. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat. Genet. 19: 155-157.
29. Kurotani, R., Tahara, S., Sanno, N., Teramoto, A., Mellon, P.L., Inoue, K., Yoshimura, S., and Osamura, R.Y. 1999. Expression of Ptx1 in the adult rat pituitary glands and pituitary cell lines: Hormone-secreting cells and folliculo-stellate cells. Cell Tissue Res. 298: 55-61.
30. Lamolet, B., Pulichino, A.M., Lamonerie, T., Gauthier, Y., Brue, T., Enjalbert, A., and Drouin, J. 2001. A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. Cell 23: 849-859.
31. Lamonerie, T., Tremblay, J.J., Lanctot, C., Therrien, M., Gauthier, Y., and Drouin, J. 1996. Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene. Genes & Dev. 10: 1284-1295.
32. Lanctot, C., Moreau, A., Chamberland, M., Tremblay, M.L., and Drouin, J. 1999. Hindlimb patterning and mandible development require the Ptx1 gene. Development 126: 1805-1810.
33. Li, S., Crenshaw III, E.B., Rawson, E.J., Simmons, D.M., Swanson, L.W., and Rosenfeld, M.G. 1990. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene Pit-1. Nature 347: 528-533.
34. Liu, J., Lin, C., Gleiberman, A., Ohgi, K.A., Herman, T., Huang, H.P., Tsai, M.J., and Rosenfeld, M.G. 2001. Tbx19, a tissueselective regulator of POMC gene expression. Proc. Natl. Acad. Sci. 98: 8674-8679.
35. Luo, X., Ikeda, Y., and Parker, K.L. 1994. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77: 481-490.
36. Machinis, K., Pantel, J., Netchine, I., Leger, J., Camand, O.J., Sobrier, M.L., Dastot-Le Moal, F., Duquesnoy, P., Abitbol, M., Czernichow, P., et al. 2001. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am. J. Hum. Genet. 69: 961-968.
37. Malecki, M.T., Jhala, U.S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J.H., Montminy, M., and Krolewski, A.S. 1999. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat. Genet. 23: 323-328.
38. McCabe, E.R.B. 2001. Adrenal hypoplasias and aplasias. In The metabolic and molecular basis of inherited disease (ed. C.R. Scriver et al.), pp. 4263-4274. McGraw-Hill, New York.
39. Muscatelli, F., Strom, T.M., Walker, A.P., Zanaria, E., Recan, D., Meindl, A., Bardoni, B., Guioli, S., Zehetner, G., Rabl, W., et al. 1994. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372: 672-676.
40. Naya, F.J., Huang, H.P., Qiu, Y., Mutoh, H., DeMayo, F.J., Leiter, A.B., and Tsai, M.J. 1997. Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice. Genes & Dev. 11: 2323-2334.
41. Netchine, I., Sobrier, M.L., Krude, H., Schnabel, D., Maghnie, M., Marcos, E., Duriez, B., Cacheux, V., Moers, A., Goossens, M., et al. 2000. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat. Genet. 25: 182-186.
42. Ng, J.K., Kawakami, Y., Buscher, D., Raya, A., Itoh, T., Koth, C.M., Rodriguez Esteban, C., Rodriguez-Leon, J., Garrity, D.M., Fishman, M.C., et al. 2002. The limb identity gene Tbx5 promotes limb initiation by interacting with Wnt2b and Fgf10. Development 129: 5161-5170.
43. Papaioannou, V.E. 2001. T-Box genes in development: From hydra to humans. Int. Rev. Cytol. 207: 1-70.
44. Parks, J.S., Brown, M.R., Hurley, D.L., Phelps, C.J., and Wajnrajch, M.P. 1999. Heritable disorders of pituitary development. J. Clin. Endocrinol. Metab. 84: 4362-4370.
45. Philips, A., Lesage, S., Gingras, R., Maira, M.H., Gauthier, Y., Hugo, P., and Drouin, J. 1997a. Novel dimeric Nur77 signaling mechanism in endocrine and lymphoid cells. Mol. Cell. Biol. 17: 5946-5951.
46. Philips, A., Maira, M., Mullick, A., Chamberland, M., Lesage, S., Hugo, P., and Drouin, J. 1997b. Antagonism between Nur77 and glucocorticoid receptor for control of transcription. Mol. Cell. Biol. 17: 5952-5959.
47. Poulin, G., Turgeon, B., and Drouin, J. 1997. NeuroD1/β2 contributes to cell-specific transcription of the proopiomelanocortin gene. Mol. Cell. Biol. 17: 6673-6682.
48. Poulin, G., Chamberland, M., Paradis, F.W., and Drouin, J. 2000. Specific protein-protein interaction between basic helixloop-helix transcription factors and homeoproteins of the Pitx family. Mol. Cell. Biol. 20: 4826-4837.
49. Pulichino, A.-M., Vallette-Kasic, S., Couture, C., Gauthier, Y., Brue, T., David, M., Malpuech, G., Deal, C., Van Vliet, G., De Vroede, M., et al. 2003a. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes & Dev. (this issue).
50. Pulichino, A.-M., Vallette-Kasic, S., Tsai, J.P.-Y., Couture, C., Gauthier, Y., and Drouin, J. 2003b. TPIT determines alternate fates during pituitary cell differentiation. Genes & Dev. (this issue).
51. Quentien, M.H., Manfroid, I., Moncet, D., Gunz, G., Muller, M., Grino, M., Enjalbert, A., and Pellegrini, I. 2002a. Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter. J. Biol. Chem. 277: 44408-44416.
52. Quentien, M.H., Pitoia, F., Gunz, G., Guillet, M.P., Enjalbert, A., and Pellegrini, I. 2002b. Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants. Endocrinology 143: 2839-2851.
53. Quirk, C.C., Lozada, K.L., Keri, R.A., and Nilson, J.H. 2001. A single Pitx1 binding site is essential for activity of the Lβ promoter in transgenic mice. Mol. Endocrinol. 15: 734-746.
54. Raetzman, L.T., Ward, R., and Camper, S.A. 2002. Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia. Development 129: 4229-4239.
55. Sheng, H.Z., Zhadanov, A.B., Mosinger, B.J., Fujii, T., Bertuzzi, S., Grinberg, A., Lee, E.J., Huang, S.P., Mahon, K.A., and Westphal, H. 1996. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 272: 1004-1007.
56. Sheng, H., Moriyama, K., Yamashita, T., Li, H., Potter, S., Mahon, K., and Westphal, H. 1997. Multistep control of pituitary organogenesis. Science 278: 1809-1812.
57. Snell, G.D. 1929. Dwarf, a new Mendelian recessive character of the house mouse. Proc. Natl. Acad. Sci. 15: 733-734.
58. Sornson, M.W., Wu, W., Dasen, J.S., Flynn, S.E., Norman, D.J., O'Connell, S.M., Gukovsky, I., Carrière, C., Ryan, A.K., Miller, A.P., et al. 1996. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism. Nature 384: 327-333.
59. Stefana, B., Ray, D.W., and Melmed, S. 1996. Leukemia inhibitory factor induces differentiation of pituitary corticotroph function: An immuno-neuroendocrine phenotypic switch. Proc. Natl. Acad. Sci. 93: 12502-12506.
60. Suh, H., Gage, P.J., Drouin, J., and Camper, S.A. 2002. Pitx2 is required at multiple stages of pituitary organogenesis: Pituitary primordium formation and cell specification. Development 129: 329-337.
61. Suszko, M.I., Lo, D.J., Suh, H., Camper, S.A., and Woodruff, T.K. 2002. Regulation of the rat FSH β-subunit promoter by activin. Mol. Endocrinol. [epub].
62. Szeto, D., Ryan, A., O'Connell, S., and Rosenfeld, M. 1996. POTX: A PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development. Proc. Natl. Acad. Sci. 93: 7706-7710.
63. Szeto, D.P., Rodriquez-Estaban, C., Ryan, A.K., O'Connell, S.M., Liu, F., Kioussi, C., Gleiberman, A.S., Izpisua-Belmonte, J.C., and Rosenfeld, M.G. 1999. Role of the Bicoidrelated homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development. Genes & Dev. 13: 484-494.
64. Takabatake, Y., Takabatake, T., Sasagawa, S., and Takeshima, K. 2002. Conserved expression control and shared activity between cognate T-box genes Tbx2 and Tbx3 in connection with Sonic hedgehog signaling during Xenopus eye development. Dev. Growth Differ. 44: 257-271.
65. Tatsumi, K., Miyai, K., Notomi, T., Kaibe, K., Amino, N., Mizuno, Y., and Kohno, H. 1992. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat. Genet. 1: 56-58.
66. Therrien, M. and Drouin, J. 1991. Pituitary pro-opiomelanocortin gene expression requires synergistic interactions of several regulatory elements. Mol. Cell. Biol. 11: 3492-3503.
67. -. 1993. Cell-specific helix-loop-helix factor required for pituitary expression of the pro-opiomelanocortin gene. Mol. Cell. Biol. 13: 2342-2353.
68. Thomas, P.Q., Dattani, M.T., Brickman, J.M., McNay, D., Warne, G., Zacharin, M., Cameron, F., Hurst, J., Woods, K., Dunger, D., et al. 2001. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum. Mol. Genet. 10: 39-45.
69. Tremblay, J.J. and Drouin, J. 1999. Egr-1 is a downstream effector of GnRH and synergizes by direct interaction with Ptx1 and SF-1 to enhance luteinizing hormone β gene transcription. Mol. Cell. Biol. 19: 2567-2576.
70. Tremblay, J.J., Lanctôt, C., and Drouin, J. 1998. The pan-pituitary activator of transcription, Ptx1 (pituitary homeobox 1), acts in synergy with SF-1 and Pit1 and is an upstream regulator of the Lim-homeodomain gene Lim3/Lhx3. Mol. Endocrinol. 12: 428-441.
71. Tremblay, J.J., Marcil, A., Gauthier, Y., and Drouin, J. 1999. Ptx1 regulates Sf-1 activity by an interaction that mimics the role of the ligand-binding domain. EMBO J. 18: 3431-3441.
72. Tremblay, Y., Tretjakoff, I., Peterson, A., Antakly, T., Zhang, C.H., and Drouin, J. 1988. Pituitary-specific expression and glucocorticoid regulation of a proopiomelanocortin fusion gene in transgenic mice. Proc. Natl. Acad. Sci. 85: 8890-8894.
73. Tumpel, S., Sanz-Ezquerro, J.J., Isaac, A., Eblaghie, M.C., Dobson, J., and Tickle, C. 2002. Regulation of Tbx3 expression by anteroposterior signalling in vertebrate limb development. Dev. Biol. 250: 251-262.
74. Vonica, A. and Gumbiner, B.M. 2002. Zygotic Wnt activity is required for Brachyury expression in the early Xenopus laevis embryo. Dev. Biol. 250: 112-127.
75. Wilson, V. and Conlon, F.L. 2002. The T-box family. Genome Biol. 3: 3008.
76. Wu, W., Cogan, J.D., Pfaffle, R.W., Dasen, J.S., Frisch, H., O'Connell, S.M., Flynn, S.E., Brown, M.R., Mullis, P.E., Parks, J.S., et al. 1998. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat. Genet. 18: 147-149.
77. Yamagishi, H., Maeda, J., Hu, T., McAnally, J., Conway, S.J., Kume, T., Meyers, E.N., Yamagishi, C., and Srivastava, D. 2003. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog- responsive enhancer. Genes & Dev. 17: 269-281.
78. Yaswen, L., Diehl, N., Brennan, M.B., and Hochgeschwender, U. 1999. Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin. Nat. Med. 5: 1066-1070.
79. Yu, R.N., Ito, M., Saunders, T.L., Camper, S.A., and Jameson, J.L. 1998. Role of Dax1 in gonadal development and gametogenesis. Nat. Genet. 20: 353-357.
80. Zanaria, E., Muscatelli, F., Bardoni, B., Strom, T.M., Guioli, S., Guo, W., Lalli, E., Moser, C., Walker, A.P., McCabe, E.R., et al. 1994. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372: 635-641.