Skip to main content
SpringerLink
Log in
Book cover

Genetic Basis for Respiratory Control Disorders pp 191–221Cite as

Transcription factor control of central respiratory neuron development

  • Chapter

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Al-Zubaidy ZA, Erickson RL, Greer JJ (1996) Serotonergic and noradrenergic effects on respiratory neural discharge in the medullary slice preparation of neonatal rats. Pflugers Arch 431: 942-949

    PubMed  CAS  Google Scholar 

  2. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyon-net S (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33: 459-461

    PubMed  CAS  Google Scholar 

  3. Amiel J, Pelet A, Trang H, de Pontual L, Simonneau M, Munnich A, Gaultier C, Lyonnet S (2003) Exclusion of RNX as a major gene in congenital central hypo-ventilation syndrome (CCHS, Ondine’s curse). Am J Med Genet A 117: 18-20

    PubMed  Google Scholar 

  4. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188

    PubMed  CAS  Google Scholar 

  5. Ballantyne D, Scheid P (2000) Mammalian brainstem chemosensitive neurones: linking them to respiration in vitro. J Physiol 525: 567-577

    PubMed  CAS  Google Scholar 

  6. Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE (2006) Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 174: 1139-1144

    PubMed  CAS  Google Scholar 

  7. Bianchi AL, Denavit-Saubie M, Champagnat J (1995) Central control of breathing in mammals: neuronal circuitry, membrane properties, and neurotransmitters. Physiol Rev 75: 1-45

    PubMed  CAS  Google Scholar 

  8. Bissonnette JM, Knopp SJ (2006) Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Pediatr Res 59: 513-518

    PubMed  CAS  Google Scholar 

  9. Blanchi B, Kelly LM, Viemari JC, Lafon I, Burnet H, Bevengut M, Tillmanns S, Daniel L, Graf T, Hilaire G, Sieweke MH (2003) MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth. Nat Neurosci 6: 1091-1100

    PubMed  CAS  Google Scholar 

  10. Blanchi B, Sieweke MH (2005) Mutations of brainstem transcription factors and central respiratory disorders. Trends Mol Med 11: 23-30

    PubMed  CAS  Google Scholar 

  11. Borday C, Chatonnet F, Thoby-Brisson M, Champagnat J, Fortin G (2005) Neural tube patterning by Krox20 and emergence of a respiratory control. Respir Physiol Neurobiol 149: 63-72

    PubMed  CAS  Google Scholar 

  12. Briscoe J, Sussel L, Serup P, Hartigan-O’Connor D, Jessell TM, Rubenstein JL, Ericson J (1999) Homeobox gene Nkx2.2 and specification of neuronal identity by graded Sonic hedgehog signalling. Nature 398: 622-627

    PubMed  CAS  Google Scholar 

  13. Brunet JF, Pattyn A (2002) Phox2 genes - from patterning to connectivity. Curr Opin Genet Dev 12: 435-440

    PubMed  CAS  Google Scholar 

  14. Chatonnet F, del Toro ED, Voiculescu O, Charnay P, Champagnat J (2002) Different respiratory control systems are affected in homozygous and heterozygous kreisler mutant mice. Eur J Neurosci 15: 684-692

    PubMed  Google Scholar 

  15. Chatonnet F, Dominguez del Toro E, Thoby-Brisson M, Champagnat J, Fortin G, Rijli FM, Thaeron-Antono C (2003) From hindbrain segmentation to breathing after birth: developmental patterning in rhombomeres 3 and 4. Mol Neurobiol 28: 277-294

    PubMed  CAS  Google Scholar 

  16. Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL (1998) Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 19: 51-55

    PubMed  Google Scholar 

  17. Chen RZ, Akbarian S, Tudor M, Jaenisch R (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27: 327-331

    PubMed  CAS  Google Scholar 

  18. Cheng L, Chen CL, Luo P, Tan M, Qiu M, Johnson R, Ma Q (2003) Lmx1b, Pet1, and Nkx2.2 coordinately specify serotonergic neurotransmitter phenotype. J Neurosci 23: 9961-9967

    PubMed  CAS  Google Scholar 

  19. Coppola E, Pattyn A, Guthrie SC, Goridis C, Studer M (2005) Reciprocal gene replacements reveal unique functions for Phox2 genes during neural differentiation. Embo J 24: 4392-4403

    PubMed  CAS  Google Scholar 

  20. Cordes SP, Barsh GS (1994) The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor. Cell 79: 1025-1034

    PubMed  CAS  Google Scholar 

  21. Cordes SP (2005) Molecular genetics of the early development of hindbrain serotonergic neurons. Clin Genet 68: 487-494

    PubMed  CAS  Google Scholar 

  22. Craven SE, Lim KC, Ye W, Engel JD, de Sauvage F, Rosenthal A (2004) Gata2 specifies serotonergic neurons downstream of sonic hedgehog. Development 131: 1165-1173

    PubMed  CAS  Google Scholar 

  23. Daley KC (2004) Update on sudden infant death syndrome. Curr Opin Pediatr 16: 227-232

    PubMed  Google Scholar 

  24. Dauger S, Renolleau S, Vardon G, Nepote V, Mas C, Simonneau M, Gaultier C, Gallego J (1999) Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice. Pediatr Res 46: 535-542

    PubMed  CAS  Google Scholar 

  25. Dauger S, Guimiot F, Renolleau S, Levacher B, Boda B, Mas C, Nepote V, Simonneau M, Gaultier C, Gallego J (2001) MASH-1/RET pathway involvement in development of brainstem control of respiratory frequency in newborn mice. Physiol Genomics 7: 149-157

    PubMed  CAS  Google Scholar 

  26. Dauger S, Pattyn A, Lofaso F, Gaultier C, Goridis C, Gallego J, Brunet JF (2003) Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways. Development 130: 6635-6642

    PubMed  CAS  Google Scholar 

  27. De Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J (2003) Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine’s curse). Hum Mol Genet 12: 3173-3180

    PubMed  Google Scholar 

  28. Del Toro ED, Borday V, Davenne M, Neun R, Rijli FM and Champagnat J (2001) Generation of a novel functional neuronal circuit in Hoxa1 mutant mice. J Neurosci 21: 5637-5642

    PubMed  CAS  Google Scholar 

  29. Ding YQ, Marklund U, Yuan W, Yin J, Wegman L, Ericson J, Deneris E, Johnson RL, Chen ZF (2003) Lmx1b is essential for the development of serotonergic neurons. Nat Neurosci 6: 933-938

    PubMed  CAS  Google Scholar 

  30. Durand E, Dauger S, Pattyn A, Gaultier C, Goridis C, Gallego J (2005) Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b. Am J Respir Crit Care Med 172: 238-243

    PubMed  Google Scholar 

  31. Eichmann A, Grapin-Botton A, Kelly L, Graf T, Le Douarin NM, Sieweke M (1997) The expression pattern of the mafB/kr gene in birds and mice reveals that the kreisler phenotype does not represent a null mutant. Mech Dev 65: 111-122

    PubMed  CAS  Google Scholar 

  32. Erickson T, Scholpp S, Brand M, Moens CB, Jan Waskiewicz A (2006) Pbx proteins cooperate with Engrailed to pattern the midbrain-hindbrain and diencephalic-mesencephalic boundaries. Dev Biol 301: 504-517

    PubMed  Google Scholar 

  33. Errchidi S, Monteau R, Hilaire G (1991) Noradrenergic modulation of the medullary respiratory rhythm generator in the newborn rat: an in vitro study. J Physiol 443: 477-498

    PubMed  CAS  Google Scholar 

  34. Feldman JL, Mitchell GS, Nattie EE (2003) Breathing: rhythmicity, plasticity, chemosensitivity. Annu Rev Neurosci 26: 239-266

    PubMed  CAS  Google Scholar 

  35. Feldman JL, Del Negro CA (2006) Looking for inspiration: new perspectives on respiratory rhythm. Nat Rev Neurosci 7: 232-242

    PubMed  CAS  Google Scholar 

  36. Feldman JL, Janczewski WA (2006) The Last Word: Point: Counterpoint authors respond to commentaries on “the parafacial respiratory group (pFRG)/pre-Botzinger complex (preBotC) is the primary site of respiratory rhythm generation in the mammal”. J Appl Physiol 101: 689

    PubMed  Google Scholar 

  37. Forster HV, Pan LG, Lowry TF, Serra A, Wenninger J, Martino P (2000) Important role of carotid chemoreceptor afferents in control of breathing of adult and neonatal mammals. Respir Physiol 119: 199-208

    PubMed  CAS  Google Scholar 

  38. Goridis C, Rohrer H (2002) Specification of catecholaminergic and serotonergic neurons. Nat Rev Neurosci 3: 531-541

    PubMed  CAS  Google Scholar 

  39. Gourine AV, Llaudet E, Dale N, Spyer KM (2005) ATP is a mediator of chemosensory transduction in the central nervous system. Nature 436: 108-111

    PubMed  CAS  Google Scholar 

  40. Gozal D (1998) Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol 26: 273-282

    PubMed  CAS  Google Scholar 

  41. Gray PA, Rekling JC, Bocchiaro CM, Feldman JL (1999) Modulation of respiratory frequency by peptidergic input to rhythmogenic neurons in the pre-Botzinger complex. Science 286: 1566-1568

    PubMed  CAS  Google Scholar 

  42. Gray PA, Janczewski WA, Mellen N, McCrimmon DR, Feldman JL (2001) Normal breathing requires preBotzinger complex neurokinin-1 receptor-expressing neurons. Nat Neurosci 4: 927-930

    PubMed  CAS  Google Scholar 

  43. Guillemot F, Lo LC, Johnson JE, Auerbach A, Anderson DJ, Joyner AL (1993) Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons. Cell 75: 463-476

    PubMed  CAS  Google Scholar 

  44. Guo S, Brush J, Teraoka H, Goddard A, Wilson SW, Mullins MC, Rosenthal A (1999) Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron 24: 555-566

    PubMed  CAS  Google Scholar 

  45. Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27: 322-326

    PubMed  CAS  Google Scholar 

  46. Guyenet PG, Sevigny CP, Weston MC, Stornetta RL (2002) Neurokinin-1 receptor-expressing cells of the ventral respiratory group are functionally heterogeneous and predominantly glutamatergic. J Neurosci 22: 3806-3816

    PubMed  CAS  Google Scholar 

  47. Hendricks T, Francis N, Fyodorov D, Deneris ES (1999) The ETS domain factor Pet-1 is an early and precise marker of central serotonin neurons and interacts with a conserved element in serotonergic genes. J Neurosci 19: 10348-10356

    PubMed  CAS  Google Scholar 

  48. Hendricks TJ, Fyodorov DV, Wegman LJ, Lelutiu NB, Pehek EA, Yamamoto B, Silver J, Weeber EJ, Sweatt JD, Deneris ES (2003) Pet-1 ETS gene plays a critical role in 5HT neuron development and is required for normal anxiety-like and aggressive behavior. Neuron 37: 233-247

    PubMed  CAS  Google Scholar 

  49. Hilaire G, Viemari JC, Coulon P, Simonneau M, Bevengut M (2004) Modulation of the respiratory rhythm generator by the pontine noradrenergic A5 and A6 groups in rodents. Respir Physiol Neurobiol 143: 187-197

    PubMed  CAS  Google Scholar 

  50. Hirsch MR, Tiveron MC, Guillemot F, Brunet JF, Goridis C (1998) Control of noradrenergic differentiation and Phox2a expression by MASH1 in the central and peripheral nervous system. Development 125: 599-608

    PubMed  CAS  Google Scholar 

  51. Holzschuh J, Barrallo-Gimeno A, Ettl AK, Durr K, Knapik EW, Driever W (2003) Noradrenergic neurons in the zebrafish hindbrain are induced by retinoic acid and require tfap2a for expression of the neurotransmitter phenotype. Development 130: 5741-5754

    PubMed  Google Scholar 

  52. Hornbruch A, Ma G, Ballermann MA, Tumova K, Liu D, Cairine Logan C (2005) A BMP-mediated transcriptional cascade involving Cash1 and Tlx-3 specifies first-order relay sensory neurons in the developing hindbrain. Mech Dev 122: 900-913

    PubMed  CAS  Google Scholar 

  53. Hunt CE (2001) Sudden infant death syndrome and other causes of infant mortality: diagnosis, mechanisms, and risk for recurrence in siblings. Am J Respir Crit Care Med 164: 346-357

    PubMed  CAS  Google Scholar 

  54. Jacquin TD, Borday V, Schneider-Maunoury S, Topilko P, Ghilini G, Kato F, Charnay P, Champagnat J (1996) Reorganization of pontine rhythmogenic neuronal networks in Krox-20 knockout mice. Neuron 17: 747-758

    PubMed  CAS  Google Scholar 

  55. Janczewski WA, Feldman JL (2006) Distinct rhythm generators for inspiration and expiration in the juvenile rat. J Physiol 570: 407-420

    PubMed  CAS  Google Scholar 

  56. Johnson SM, Koshiya N, Smith JC (2001) Isolation of the kernel for respiratory rhythm generation in a novel preparation: the pre-Botzinger complex "island". J Neurophysiol 85: 1772-1776

    PubMed  CAS  Google Scholar 

  57. Jrdan D (2001) Central nervous pathways and control of the airways. Respir Physiol 125: 67-81

    Google Scholar 

  58. Julu PO, Kerr AM, Apartopoulos F, Al-Rawas S, Engerstrom IW, Engerstrom L, Jamal GA, Hansen S (2001) Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child 85: 29-37

    PubMed  CAS  Google Scholar 

  59. Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K (2002) Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. Tohoku J Exp Med 196: 241-246

    PubMed  CAS  Google Scholar 

  60. Kelly LM, Englmeier U, Lafon I, Sieweke MH, Graf T (2000) MafB is an inducer of monocytic differentiation. Embo J 19: 1987-1997

    PubMed  CAS  Google Scholar 

  61. Kijima K, Sasaki A, Niki T, Umetsu K, Osawa M, Matoba R, Hayasaka K (2004) Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. Tohoku J Exp Med 203: 65-68

    PubMed  CAS  Google Scholar 

  62. Kinney HC, Filiano JJ, White WF (2001) Medullary serotonergic network deficiency in the sudden infant death syndrome: review of a 15-year study of a single dataset. J Neuropathol Exp Neurol 60: 228-247

    PubMed  CAS  Google Scholar 

  63. Kinney HC (2005) Abnormalities of the brainstem serotonergic system in the sudden infant death syndrome: a review. Pediatr Dev Pathol 8: 507-524

    PubMed  Google Scholar 

  64. Kinney HC, Myers MM, Belliveau RA, Randall LL, Trachtenberg FL, Fingers ST, Youngman M, Habbe D, Fifer WP (2005) Subtle autonomic and respiratory dysfunction in sudden infant death syndrome associated with serotonergic brain-stem abnormalities: a case report. J Neuropathol Exp Neurol 64: 689-694

    PubMed  Google Scholar 

  65. Kohnlein T, Welte T, Tan LB, Elliott MW (2002) Central sleep apnoea syndrome in patients with chronic heart disease: a critical review of the current literature. Thorax 57: 547-554

    PubMed  CAS  Google Scholar 

  66. Li A, Nattie E (2006) Catecholamine neurones in rats modulate sleep, breathing, central chemoreception and breathing variability. J Physiol 570: 385-396

    PubMed  CAS  Google Scholar 

  67. Li MA, Alls JD, Avancini RM, Koo K, Godt D (2003) The large Maf factor Traffic Jam controls gonad morphogenesis in Drosophila. Nat Cell Biol 5: 994-1000

    PubMed  CAS  Google Scholar 

  68. Lim KC, Lakshmanan G, Crawford SE, Gu Y, Grosveld F, Engel JD (2000) Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system. Nat Genet 25: 209-212

    PubMed  CAS  Google Scholar 

  69. Manzke T, Guenther U, Ponimaskin EG, Haller M, Dutschmann M, Schwarzacher S, Richter DW (2003) 5HT4(a) receptors avert opioid-induced breathing depression without loss of analgesia. Science 301: 226-229

    PubMed  CAS  Google Scholar 

  70. Matera I, Bachetti T, Cinti R, Lerone M, Gagliardi L, Morandi F, Motta M, Mosca F, Ottonello G, Piumelli R, Schober JG, Ravazzolo R, Ceccherini I (2002) Mutational analysis of the RNX gene in congenital central hypoventilation syndrome. Am J Med Genet 113: 178-182

    PubMed  Google Scholar 

  71. Matise MP, Epstein DJ, Park HL, Platt KA, Joyner AL (1998) Gli2 is required for induction of floor plate and adjacent cells, but not most ventral neurons in the mouse central nervous system. Development 125: 2759-2770

    PubMed  CAS  Google Scholar 

  72. McKay IJ, Muchamore I, Krumlauf R, Maden M, Lumsden A, Lewis J (1994) The kreisler mouse: a hindbrain segmentation mutant that lacks two rhombomeres. Development 120: 2199-2211

    PubMed  CAS  Google Scholar 

  73. McKay LC, Janczewski WA, Feldman JL (2005) Sleep-disordered breathing after targeted ablation of preBotzinger complex neurons. Nat Neurosci 8: 1142-1144

    PubMed  CAS  Google Scholar 

  74. Mellen NM, Janczewski WA, Bocchiaro CM, Feldman JL (2003) Opioid-induced quantal slowing reveals dual networks for respiratory rhythm generation. Neuron 37: 821-826

    PubMed  CAS  Google Scholar 

  75. Morin X, Cremer H, Hirsch MR, Kapur RP, Goridis C, Brunet JF (1997) Defects in sensory and autonomic ganglia and absence of locus coeruleus in mice deficient for the homeobox gene Phox2a. Neuron 18: 411-423

    PubMed  CAS  Google Scholar 

  76. Mulkey DK, Stornetta RL, Weston MC, Simmons JR, Parker A, Bayliss DA, Guyenet PG (2004) Respiratory control by ventral surface chemoreceptor neurons in rats. Nat Neurosci 7: 1360-1369

    PubMed  CAS  Google Scholar 

  77. Narita N, Narita M, Takashima S, Nakayama M, Nagai T, Okado N (2001) Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population. Pediatrics 107: 690-692

    PubMed  CAS  Google Scholar 

  78. Nattie E, Li A (2000) Muscimol dialysis in the retrotrapezoid nucleus region inhibits breathing in the awake rat. J Appl Physiol 89: 153-162

    PubMed  CAS  Google Scholar 

  79. Nattie E, Li A (2006) Central chemoreception 2005: a brief review. Auton Neurosci 126-127: 332-338

    PubMed  CAS  Google Scholar 

  80. Nattie EE, Li A (2002) Substance P-saporin lesion of neurons with NK1 receptors in one chemoreceptor site in rats decreases ventilation and chemosensitivity. J Physiol 544: 603-616

    PubMed  CAS  Google Scholar 

  81. Nattie EE, Li A, Richerson G, Lappi DA (2004) Medullary serotonergic neurones and adjacent neurones that express neurokinin-1 receptors are both involved in chemoreception in vivo. J Physiol 556: 235-253

    PubMed  CAS  Google Scholar 

  82. Norton WH, Mangoli M, Lele Z, Pogoda HM, Diamond B, Mercurio S, Russell C, Teraoka H, Stickney HL, Rauch GJ, Heisenberg CP, Houart C, Schilling TF, Frohnhoefer HG, Rastegar S, Neumann CJ, Gardiner RM, Strahle U, Geisler R, Rees M, Talbot WS, Wilson SW (2005) Monorail/Foxa2 regulates floorplate differentiation and specification of oligodendrocytes, serotonergic raphe neurones and cranial motoneurones. Development 132: 645-658

    PubMed  CAS  Google Scholar 

  83. Nsegbe E, Wallen-Mackenzie A, Dauger S, Roux JC, Shvarev Y, Lagercrantz H, Perlmann T, Herlenius E (2004) Congenital hypoventilation and impaired hypoxic response in Nurr1 mutant mice. J Physiol 556: 43-59

    PubMed  CAS  Google Scholar 

  84. Onimaru H, Homma I (2003) A novel functional neuron group for respiratory rhythm generation in the ventral medulla. J Neurosci 23: 1478-1486

    PubMed  CAS  Google Scholar 

  85. Onimaru H, Homma I (2006) Point: Counterpoint: The parafacial respiratory group (pFRG)/pre-Botzinger complex (preBotC) is the primary site of respiratory rhythm generation in the mammal. Point: the PFRG is the primary site of respiratory rhythm generation in the mammal. J Appl Physiol 100: 2094-2095

    PubMed  Google Scholar 

  86. Ozawa Y, Okado N (2002) Alteration of serotonergic receptors in the brain stems of human patients with respiratory disorders. Neuropediatrics 33: 142-149

    PubMed  CAS  Google Scholar 

  87. Panigrahy A, Filiano J, Sleeper LA, Mandell F, Valdes-Dapena M, Krous HF, Rava LA, Foley E, White WF, Kinney HC (2000) Decreased serotonergic receptor binding in rhombic lip-derived regions of the medulla oblongata in the sudden infant death syndrome. J Neuropathol Exp Neurol 59: 377-384

    PubMed  CAS  Google Scholar 

  88. Parras CM, Schuurmans C, Scardigli R, Kim J, Anderson DJ, Guillemot F (2002) Divergent functions of the proneural genes Mash1 and Ngn2 in the specification of neuronal subtype identity. Genes Dev 16: 324-338

    PubMed  CAS  Google Scholar 

  89. Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R, Chadwick AE, Krous HF, Kinney HC (2006) Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA 296: 2124-2132

    PubMed  CAS  Google Scholar 

  90. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 124: 4065-4075

    PubMed  CAS  Google Scholar 

  91. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF (1999) The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature 399: 366-370

    PubMed  CAS  Google Scholar 

  92. Pattyn A, Goridis C, Brunet JF (2000) Specification of the central noradrenergic phenotype by the homeobox gene Phox2b. Mol Cell Neurosci 15: 235-243

    PubMed  CAS  Google Scholar 

  93. Pattyn A, Vallstedt A, Dias JM, Samad OA, Krumlauf R, Rijli FM, Brunet JF, Ericson J (2003) Coordinated temporal and spatial control of motor neuron and serotonergic neuron generation from a common pool of CNS progenitors. Genes Dev 17: 729-737

    PubMed  CAS  Google Scholar 

  94. Pattyn A, Simplicio N, van Doorninck JH, Goridis C, Guillemot F, Brunet JF (2004) Ascl1/Mash1 is required for the development of central serotonergic neurons. Nat Neurosci 7: 589-595

    PubMed  CAS  Google Scholar 

  95. Pattyn A, Guillemot F, Brunet JF (2006) Delays in neuronal differentiation in Mash1/Ascl1 mutants. Dev Biol 295: 67-75

    PubMed  CAS  Google Scholar 

  96. Pfaar H, von Holst A, Vogt Weisenhorn DM, Brodski C, Guimera J, Wurst W (2002) mPet-1, a mouse ETS-domain transcription factor, is expressed in central serotonergic neurons. Dev Genes Evol 212: 43-46

    PubMed  CAS  Google Scholar 

  97. Qian Y, Fritzsch B, Shirasawa S, Chen CL, Choi Y, Ma Q (2001) Formation of brainstem (nor)adrenergic centers and first-order relay visceral sensory neurons is dependent on homeodomain protein Rnx/Tlx3. Genes Dev 15: 2533-2545

    PubMed  CAS  Google Scholar 

  98. Ramanantsoa N, Vaubourg V, Dauger S, Matrot B, Vardon G, Chettouh Z, Gaultier C, Goridis C, Gallego J (2006) Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2b. Am J Physiol 290: R1691-1696

    CAS  Google Scholar 

  99. Ramirez JM, Schwarzacher SW, Pierrefiche O, Olivera BM, Richter DW (1998) Selective lesioning of the cat pre-Botzinger complex in vivo eliminates breathing but not gasping. J Physiol 507: 895-907

    PubMed  CAS  Google Scholar 

  100. Rhee JW, Arata A, Selleri L, Jacobs Y, Arata S, Onimaru H, Cleary ML (2004) Pbx3 deficiency results in central hypoventilation. Am J Pathol 165: 1343-1350

    PubMed  CAS  Google Scholar 

  101. Sadl V, Jin F, Yu J, Cui S, Holmyard D, Quaggin S, Barsh G, Cordes S (2002) The mouse Kreisler (Krml1/MafB) segmentation gene is required for differentiation of glomerular visceral epithelial cells. Dev Biol 249: 16-29

    PubMed  CAS  Google Scholar 

  102. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K (2003) Molecular analysis of congenital central hypoventilation syndrome. Hum Genet 114: 22-26

    PubMed  CAS  Google Scholar 

  103. Shimamura K, Hartigan DJ, Martinez S, Puelles L, Rubenstein JL (1995) Longitudinal organization of the anterior neural plate and neural tube. Development 121: 3923-3933

    PubMed  CAS  Google Scholar 

  104. Shirasawa S, Arata A, Onimaru H, Roth KA, Brown GA, Horning S, Arata S, Okumura K, Sasazuki T, Korsmeyer SJ (2000) Rnx deficiency results in congenital central hypoventilation. Nat Genet 24: 287-290

    PubMed  CAS  Google Scholar 

  105. Sieweke MH, Tekotte H, Frampton J, Graf T (1996) MafB is an interaction part ner and repressor of Ets-1 that inhibits erythroid differentiation. Cell 85: 49-60

    PubMed  CAS  Google Scholar 

  106. Sieweke MH, Graf T (1998) A transcription factor party during blood cell differentiation. Curr Opin Genet Dev 8: 545-551

    PubMed  CAS  Google Scholar 

  107. Smith JC, Ellenberger HH, Ballanyi K, Richter DW, Feldman JL (1991) Pre-Botzinger complex: a brainstem region that may generate respiratory rhythm in mammals. Science 254: 726-729

    PubMed  CAS  Google Scholar 

  108. Stornetta RL, Rosin DL, Wang H, Sevigny CP, Weston MC, Guyenet PG (2003) A group of glutamatergic interneurons expressing high levels of both neurokinin 1 receptors and somatostatin identifies the region of the pre-Botzinger complex. J Comp Neurol 455: 499-512

    PubMed  CAS  Google Scholar 

  109. Sussel L, Kalamaras J, Hartigan-O’Connor DJ, Meneses JJ, Pedersen RA, Ruben-stein JL, German MS (1998) Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due to arrested differentiation of pancreatic beta cells. De velopment 125: 2213-2221

    CAS  Google Scholar 

  110. Taylor NC, Li A, Nattie EE (2005) Medullary serotonergic neurones modulate the ventilatory response to hypercapnia, but not hypoxia in conscious rats. J Physiol 566: 543-557

    PubMed  CAS  Google Scholar 

  111. Taylor NC, Li A, Nattie EE (2006) Ventilatory effects of muscimol microdialysis into the rostral medullary raphe region of conscious rats. Respir Physiol Neurobiol 153: 203-216

    PubMed  CAS  Google Scholar 

  112. Van Doorninck JH, van Der Wees J, Karis A, Goedknegt E, Engel JD, Coesmans M, Rutteman M, Grosveld F, De Zeeuw CI (1999) GATA-3 is involved in the development of serotonergic neurons in the caudal raphe nuclei. J Neurosci 19: RC12

    PubMed  Google Scholar 

  113. Viemari JC, Burnet H, Bevengut M, Hilaire G (2003) Perinatal maturation of the mouse respiratory rhythm-generator: in vivo and in vitro studies. Eur J Neurosci 17: 1233-1244

    PubMed  Google Scholar 

  114. Viemari JC, Bevengut M, Burnet H, Coulon P, Pequignot JM, Tiveron MC, Hilaire G (2004) Phox2a gene, A6 neurons, and noradrenaline are essential for development of normal respiratory rhythm in mice. J Neurosci 24: 928-937

    PubMed  CAS  Google Scholar 

  115. Viemari JC, Roux JC, Tryba AK, Saywell V, Burnet H, Pena F, Zanella S, Bevengut M, Barthelemy-Requin M, Herzing LB, Moncla A, Mancini J, Ramirez JM, Villard L, Hilaire G (2005) Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci 25: 11521-11530

    PubMed  CAS  Google Scholar 

  116. Wallen AA, Castro DS, Zetterstrom RH, Karlen M, Olson L, Ericson J, Perlmann T (2001) Orphan nuclear receptor Nurr1 is essential for Ret expression in midbrain dopamine neurons and in the brain stem. Mol Cell Neurosci 18: 649-663 Warnecke M, Oster H, Revelli JP, Alvarez-Bolado G, Eichele G (2005) Abnormal development of the locus coeruleus in Ear2(Nr2f6)-deficient mice impairs the functionality of the forebrain clock and affects nociception. Gene Dev 19:614-625

    Google Scholar 

  117. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML (2003) Idiopathic congenital central hypoventilation syn drome: analysis of genes pertinent to early autonomic nervous system embryolo gic development and identification of mutations in PHOX2B. Am J Med Genet 123: 267-278

    Google Scholar 

  118. Weese-Mayer DE, Zhou L, Berry-Kravis EM, Maher BS, Silvestri JM, Marazita ML (2003) Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet 122: 238-245

    Google Scholar 

  119. Weese-Mayer DE, Berry-Kravis EM, Maher BS, Silvestri JM, Curran ME, Marazita ML (2003) Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet 117: 268-274

    Google Scholar 

  120. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Curran ME, Silvestri JM, Marazita ML (2004) Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res 56: 391-395

    PubMed  CAS  Google Scholar 

  121. Weese-Mayer DE, Berry-Kravis EM, Marazita ML (2005) In pursuit (and dis covery) of a genetic basis for congenital central hypoventilation syndrome. Res pir Physiol Neurobiol 149: 73-82

    CAS  Google Scholar 

  122. Weese-Mayer DE (2006) Sudden infant death syndrome: is serotonin the key factor? JAMA 296: 2143-2144

    PubMed  CAS  Google Scholar 

  123. Weese-Mayer DE, Lieske SP, Boothby CM, Kenny AS, Bennett HL, Silvestri JM, Ramirez JM (2006) Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatr Res 60: 443-449

    PubMed  Google Scholar 

  124. Wenninger JM, Pan LG, Klum L, Leekley T, Bastastic J, Hodges MR, Feroah TR, Davis S, Forster HV (2004) Large lesions in the pre-Botzinger complex area eliminate eupneic respiratory rhythm in awake goats. J Appl Physiol 97: 1629

    Google Scholar 

  125. Wenninger JM, Pan LG, Klum L, Leekley T, Bastastic J, Hodges MR, Feroah T, Davis S, Forster HV (2004) Small reduction of neurokinin-1 receptor-expressing neurons in the pre-Bötzinger complex area induces abnormal breathing periods in awake goats. J Appl Physiol 97: 1620-1628

    PubMed  CAS  Google Scholar 

  126. White DP (2005) Pathogenesis of obstructive and central sleep apnea. Am J Res pir Crit Care Med 172: 1363-1370

    Google Scholar 

  127. Zanella S, Roux JC, Viemari JC, Hilaire G (2006) Possible modulation of the mouse respiratory rhythm generator by A1/C1 neurones. Respir Physiol Neurobiol 153: 126-138

    PubMed  CAS  Google Scholar 

  128. Zetterstrom RH, Solomin L, Jansson L, Hoffer BJ, Olson L, Perlmann T (1997) Dopamine neuron agenesis in Nurr1-deficient mice. Science 276: 248-250

    PubMed  CAS  Google Scholar 

  129. Zhou QY, Palmiter RD (1995) Dopamine-deficient mice are severely hypoactive, adipsic, and aphagic. Cell 83: 1197-1209

    PubMed  CAS  Google Scholar 

  130. Zoghbi HY (2003) Postnatal neurodevelopmental disorders: meeting at the synapse? Science 302: 826-830

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Semel Institute for Neuroscience and Human Behavior, Mental Retardation Research Center, Neuroscience Research Building, University of California-Los Angeles, Los Angeles, CA, 90095-7332, U.S.A.

    Bruno C. Blanchi & Michael H. Sieweke

Authors
  1. Bruno C. Blanchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Michael H. Sieweke
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Blanchi, B.C., Sieweke, M.H. (2008). Transcription factor control of central respiratory neuron development. In: Genetic Basis for Respiratory Control Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70765-5_12

Download citation

Publish with us

Policies and ethics

Search

Navigation