Looking for trouble: A search for developmental defects of the hypothalamus

Hormone Research

Volumn 64, Issue 5, 2005, Pages 222-230

  Caqueret, Aurore ^a   Yang, Chun ^a   Duplan, Sabine ^a   Boucher, Francine ^a   Michaud, Jacques L ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Energy balance; Hypothalamus, developmental defects; Imprinting; Transcription factor

Indexed keywords

HOMEODOMAIN PROTEIN; PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR;

ARCUATE NUCLEUS; BRAIN DEVELOPMENT; BRAIN FUNCTION; CELL TYPE; DEVELOPMENTAL DISORDER; HOMEOSTASIS; HUMAN; HYPERTENSION; HYPOTHALAMUS; HYPOTHALAMUS DISEASE; MAGNOCELLULAR NUCLEUS; NERVE FIBER; NONHUMAN; OBESITY; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SHORT SURVEY; SUPRAOPTIC NUCLEUS; THALAMUS MIDLINE NUCLEUS; THALAMUS VENTRAL NUCLEUS; TRANSCRIPTION REGULATION;

ANIMALS; ARCUATE NUCLEUS; ENERGY METABOLISM; GENOMIC IMPRINTING; HOMEOSTASIS; HUMANS; HYPERTENSION; HYPOTHALAMIC DISEASES; HYPOTHALAMUS; OBESITY; PARAVENTRICULAR HYPOTHALAMIC NUCLEUS; TRANSCRIPTION FACTORS;

EID: 27744602487     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000088977     Document Type: Short Survey

References (72)

1. Wray S: Development of gonadotropin-releasing hormone-1 neurons. Front Neuroendocrinol 2002;23:292-316.
2. Wilson SW, Houart C: Early steps in the development of the forebrain. Dev Cell 2004;6:167-181.
3. Roessler E, Muenke M: How a hedgehog might see holoprosencephaly. Hum Mol Genet 2003; 12:R15-R25.
4. Ming JE, Muenke M: Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 2002;71:1017-1032.
5. Ohkubo Y, Chiang C, Rubenstein JL: Coordinate regulation and synergistic actions of BMP4 SHH and FGF8 in the rostral prosencephalon regulate morphogenesis of the telencephalic and optic vesicles. Neuroscience 2002;111:1-17.
6. Kapsimali M, Caneparo L, Houart C, Wilson SW: Inhibition of Wnt/Axin/beta-catenin pathway activity promotes ventral CNS midline tissue to adopt hypothalamic rather than floorplate identity. Development 2004;131: 5923-5933.
7. Daikoku S, Chikamori M, Adachi T, Okamura Y, Nishiyama T, Tsuruo Y: Ontogenesis of hypothalamic immunoreactive ACTH cells in vivo and in vitro: role of Rathke's pouch. Dev Biol 1983;97:81-88.
8. Hermesz E, Williams-Simons L, Mahon KA: A novel inducible element activated by contact with Rathke's pouch is present in the regulatory region of the Rpx/Hesx1 homeobox gene. Dev Biol 2003;260:68-78.
9. Michaud JL, Rosenquist T, May NR, Fan CM: Development of neuroendocrine lineages requires the BHLH-PAS transcription factor SIM1. Genes Dev 1998;12:3264-3275.
10. Michaud JL, DeRossi C, May NR, Holdener BC, Fan CM: ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus. Mech Dev 2000;90:253-261.
11. Hosoya T, Oda Y, Takahashi S, Morita M, Kawauchi S, Ema M, Yamamoto M, Fujii-Kuriyama Y: Defective development of secretory neurones in the hypothalamus of Arnt2-knockout mice. Genes Cells 2001;6:361-374.
12. Keith B, Adelman DM, Simon MC: Targeted mutation of the murine arylhydrocarbon receptor nuclear translocator 2 (Arnt2) gene reveals partial redundancy with Arnt. Proc Natl Acad Sci USA 2001;98:6692-6697.
13. Acampora D, Postiglione MP, Avantaggiato V, Di Bonito M, Vaccarino FM: Michaud J, Simeone A: Progressive impairment of developing neuroendocrine cell lineages in the hypothalamus of mice lacking the Orthopedia gene. Genes Dev 1999;13:2787-2800.
14. Wang W, Lufkin T: The murine Otp homeobox gene plays an essential role in the specification of neuronal cell lineages in the developing hypothalamus. Dev Biol 2000;227:432-449.
15. Schonemann MD, Ryan AK, McEvilly RJ, O'Connell CA: Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor BRN2. Genes Dev 1995;9:3122-3135.
16. Nakai S, Kawano H, Yudate T, Nishi M, Kuno J, Nagata A, Jishage K, Hamada H, Fujii H, Kawamura K: The POU domain transcription factor Brn-2 is required for the determination of specific neuronal lineages in the hypothalamus of the mouse. Genes Dev 1995;9:3109-3121.
17. Goshu E, Jin H, Lovejoy J, Marion JF, Michaud JL, Fan CM: Sim2 contributes to neuroendocrine hormone gene expression in the anterior hypothalamus. Mol Endocrinol 2004;18: 1251-1262.
18. Dickson SL, Luckman SM: Induction of c-fos messenger ribonucleic acid in neuropeptide Y and growth hormone (GH)-releasing factor neurons in the rat arcuate nucleus following systemic injection of the GH secretagogue GH-releasing peptide-6. Endocrinology 1997;138: 771-777.
19. Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox CH, Ward JM, Gonzalez FJ: The T/Ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid lung ventral forebrain and pituitary. Genes Dev 1996;10:60-69.
20. Ericson J, Muhr J, Placzek M, Lints T, Jessell TM, Edlund T: Sonic hedgehog induces the differentiation of ventral forebrain neurons: a common signal for ventral patterning within the neural tube. Cell 1995;81:747-756.
21. Pabst O, Herbrand H, Takuma N, Arnold HH: NKX2 gene expression in neuroectoderm but not in mesendodermally derived structures depends on Sonic Hedgehog in mouse embryos. Dev Genes Evol 2000;210:47-50.
22. Marin O, Baker J, Puelles L, Rubenstein JL: Patterning of the basal telencephalon and hypothalamus is essential for guidance of cortical projections. Development 2002;129:761-773.
23. Li H, Zeitler PS, Valerius MT, Small K, Potter SS: Gsh-1 an orphan Hox gene is required for normal pituitary development. EMBO J 1996; 15:714-724.
24. Wang W, Grimmer JF, Van De Water TR, Lufkin T: Hmx2 and Hmx3 homeobox genes direct development of the murine inner ear and hypothalamus and can be functionally replaced by Drosophila Hmx. Dev Cell 2004;7: 439-453.
25. Shinoda K, Lei H, Yoshii H, Nomura M, Nagano M, Shiba H, Sasaki H, Osawa Y, Ninomiya Y, Niwa O: Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice. Dev Dyn 1995;204:22-29.
26. Ingraham HA, Lala DS, Ikeda Y, Luo X, Shen WH, Nachtigal MW, Abbud R, Nilson JH, Parker KL: The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis. Genes Dev 1994;8:2302-2312.
27. Dellovade TL, Young M, Ross EP, Henderson R, Caron K, Parker K, Tobet SA: Disruption of the gene encoding SF-1 alters the distribution of hypothalamic neuronal phenotypes. J Comp Neurol 2000;423:579-589.
28. Ikeda Y, Luo X, Abbud R, Nilson JH, Parker KL: The nuclear receptor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus. Mol Endocrinol 1995;9:478-486.
29. Majdic G, Young M, Gomez-Sanchez E, Anderson P, Szczepaniak LS, Dobbins RL, McGarry JD, Parker KL: Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity. Endocrinology 2002;143:607-614.
30. Tran PV, Lee MB, Marin O, Xu B, Jones KR, Reichardt LF, Rubenstein JR, Ingraham HA: Requirement of the orphan nuclear receptor SF-1 in terminal differentiation of ventromedial hypothalamic neurons. Mol Cell Neurosci 2003;22:441-453.
31. Davis AM, Seney ML, Stallings NR, Zhao L, Parker KL, Tobet SA: Loss of steroidogenic factor 1 alters cellular topography in the mouse ventromedial nucleus of the hypothalamus. J Neurobiol 2004;60:424-436.
32. Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Levy E, Mitchell GA, Himms-Hagen J, Fan CM: Sim1 haploinsufficiency causes hyperphagia obesity and reduction of the paraventricular nucleus of the hypothalamus. Hum Mol Genet 2001;10:1465-1473.
33. Holder JL Jr, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn AR: Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab 2004;287: E105-E113.
34. Holder JL Jr, Butte NF, Zinn AR: Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet 2000;9:101-108.
35. Villa A, Urioste M, Bofarall JM, Martinez-Frias ML: De novo interstitial deletion Q16.2q21 on chromosome 6. Am J Med Genet 1995;55:379-383.
36. Turleau C, Demay G, Cabanis MO, Lenoir G, de Grouchy J: 6q1 monosomy: a distinctive syndrome. Clin Genet 1988;34:38-42.
37. Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreels FJ: Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature. Eur J Paediatr Neurol 2000;4:39-43.
38. Meyre D, Lecoeur C, Delplanque J, Francke S, Vatin V, Durand E, Weill J, Dina C, Froguel P: A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-Q23.2. Diabetes 2004;53:803-811.
39. Wong LF, Murphy D: Adenoviral-mediated over-expression of Brn2 in the rat paraventricular nucleus: no effect on vasopressin or corticotrophin releasing factor RNA levels. Mol Cell Endocrinol 2003;200:165-175.
40. Kovacs KJ, Sawchenko PE: Sequence of stress-induced alterations in indices of synaptic and transcriptional activation in parvocellular neurosecretory neurons. J Neurosci 1996;16:262-273.
41. Ramkumar T, Adler SA: Requirement for the POU transcription factor Brn-2 in corticotropin-releasing hormone expression in a neuronal cell line. Mol Endocrinol 1999;13:1237-1248.
42. Rogers MC, Silverman AJ, Gibson MJ: Gonadotropin-releasing hormone axons target the median eminence: in vitro evidence for diffusible chemoattractive signals from the medio-basal hypothalamus. Endocrinology 1997;138: 3956-3966.
43. Deiner MS, Sretavan DW: Altered midline axon pathways and ectopic neurons in the developing hypothalamus of netrin-1- and DCC-deficient mice. J Neurosci 1999;19:9900-9912.
44. Markakis EA: Development of the neuroendocrine hypothalamus. Front Neuroendocrinol 2002;23:257-291.
45. Bouret SG, Draper SJ, Simerly RB: Formation of projection pathways from the arcuate nucleus of the hypothalamus to hypothalamic regions implicated in the neural control of feeding behavior in mice. J Neurosci 2004;24: 2797-2805.
46. Proulx K, Richard D, Walker CD: Leptin regulates appetite-related neuropeptides in the hypothalamus of developing rats without affecting food intake. Endocrinology 2002;143: 4683-4692.
47. Bouret SG, Draper SJ, Simerly RB: Trophic action of leptin on hypothalamic neurons that regulate feeding. Science 2004;304:108-110.
48. Gluckman PD: Maturation of hypothalamic-pituitary function in the ovine fetus and neonate. Ciba Found Symp 1981;86:5-42.
49. Clancy B, Darlington RB, Finlay BL: Translating developmental time across mammalian species. Neuroscience 2001;105:7-17.
50. Avishai-Eliner S, Brunson KL, Sandman CA, Baram TZ: Stressed-out or in (utero)? Trends Neurosci 2002;25:518-524.
51. Rinaman L: Postnatal development of hypothalamic inputs to the dorsal vagal complex in rats. Physiol Behav 2003;79:65-70.
52. Blevins JE, Schwartz MW, Baskin DG: Evidence that paraventricular nucleus oxytocin neurons link hypothalamic leptin action to caudal brain stem nuclei controlling meal size. Am J Physiol Regul Integr Comp Physiol 2004; 287:R87-R96.
53. Rinaman L, Vollmer RR, Karam J, Phillips D, Li X, Amico JA: Dehydration anorexia is attenuated in oxytocin-deficient mice. Am J Physiol Regul Integr Comp Physiol 2005;288: R1791-R1799.
54. Allen ND, Logan K, Lally G, Drage DJ, Norris ML, Keverne EB: Distribution of parthenogenetic cells in the mouse brain and their influence on brain development and behavior. Proc Natl Acad Sci USA 1995;92:10782-10786.
55. Keverne EB, Fundele R, Narasimha M, Barton SC, Surani MA: Genomic imprinting and the differential roles of parental genomes in brain development. Brain Res Dev Brain Res 1996; 92:91-100.
56. Curley JP, Pinnock SB, Dickson SL, Thresher R, Miyoshi N, Surani MA, Keverne EB: Increased body fat in mice with a targeted mutation of the paternally expressed imprinted gene Peg3. FASEB J2005;19:1302-1304.
57. Goldstone AP: Prader-Willi syndrome: advances in genetic pathophysiology and treatment. Trends Endocrinol Metab 2004;15:12-20.
58. Andrieu D, Watrin F, Niinobe M, Yoshikawa K, Muscatelli F, Fernandez PA: Expression of the Prader-Willi gene necdin during mouse nervous system development correlates with neuronal differentiation and P75NTR expression. Gene Expr Patterns 2003;3:761-765.
59. Lee S, Walker CL, Wevrick R: Prader-Willi syndrome transcripts are expressed in phenotypically significant regions of the developing mouse brain. Gene Expr Patterns 2003;3:599-609.
60. Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R: Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Hum Mol Genet 2005;14: 627-637.
61. Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P, Roeckel N, Taviaux S, Lefranc JL, Cau P, Berta P, Lalande M, Muscatelli F: The human necdin gene NDN is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet 1997;17:357-361.
62. Haig D: Genomic imprinting and kinship: how good Is the evidence? Annu Rev Genet 2004; 38:553-585.
63. Pulichino AM, Vallette-Kasic S, Couture C, Gauthier Y, Brue T, David M, Malpuech G, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, Drouin J: Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev 2003;17:711-716.
64. Habener JF, Kemp DM, Thomas MK: Mini-review: transcriptional regulation in pancreatic development. Endocrinology 2005;146: 1025-1034.
65. Elmquist JK, Elias CF, Saper CB: From lesions to leptin: hypothalamic control of food intake and body weight. Neuron 1999;22:221-232.
66. Elias CF, Aschkenasi C, Lee C, Kelly J, Ahima RS, Bjorbaek C, Flier JS, Saper CB, Elmquist JK: Leptin differentially regulated NPY and POMC neurons projecting to the lateral hypothalamic area. Neuron 1999;23:775-786.
67. Cowley MA, Pronchuk N, Fan W, Dinulescu DM, Colmers WF, Cone RD: Integration of NPY AGRP and melanocortin signals in the hypothalamic paraventricular nucleus: evidence of a cellular basis for the adipostat. Neuron 1999;24:155-163.
68. Billington CJ, Briggs JE, Grace M, Levine AS: Effects of intracerebroventricular injection of neuropeptide Y on energy metabolism. Am J Physiol 1991;260:R321-R327.
69. Graham M, Shutter JR, Sarmiento V, Sarosi I, Stark KL: Over-expression of Agrt leads to obesity in transgenic mice. Nat Genet 1997;17: 273-274.
70. Ollmann MM, Wilson BD, Yang YK, Kerns JA, Chen Y, Gantz I, Barsln GS: Antagonism of central melanocortin receptors in vitro and in vivo by Agouti-related protein. Science 1997;278:135-138.
71. Fan W, Boston BA, Kesterson RA, Hruby VJ, Cone RD: Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature 1997;385:165-168.
72. Kristensen P, Judge ME, Thim L, Ribel U, Christjansen KN, Wulff BS, Clausen JT, Jensen PB, Madsen OD, Vrang N, Larsen PJ, Hastrup S: Hypothalamic CART is a new anorectic peptide regulated by leptin. Nature 1998;393: 72-76.