Skip to main content

Tentative mouse model for the congenital central hypoventilation syndrome: heterozygous phox2b mutant newborn mice

  • Chapter
Book cover Genetic Basis for Respiratory Control Disorders

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

Access this chapter

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

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. (1999) Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society. Am J Respir Crit Care Med 160: 368373

    Google Scholar 

  2. Al-Matary A, Kutbi I, Qurashi M, Khalil M, Alvaro R, Kwiatkowski K, Cates D, Rigatto H (2004) Increased peripheral chemoreceptor activity may be critical in destabilizing breathing in neonates. Semin Perinatol 28: 264-272

    Article  PubMed  Google Scholar 

  3. 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

    Article  PubMed  CAS  Google Scholar 

  4. 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

    Article  PubMed  Google Scholar 

  5. Armstrong CM, DeVito LM, Cleland TA (2006) One-trial associative odor learning in neonatal mice. Chem Senses 31: 343-349

    Article  PubMed  Google Scholar 

  6. Bachetti T, Matera I, Borghini S, Duca MD, Ravazzolo R, Ceccherini I (2005) Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Hum Mol Genet 14: 1815-1824

    Article  PubMed  CAS  Google Scholar 

  7. Bachetti T, Robbiano A, Parodi S, Matera I, Merello E, Capra V, Baglietto MP, Rossi A, Ceccherini I, Ottonello G (2006) Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. Am J Respir Crit Care Med 174: 706-709

    Article  PubMed  Google Scholar 

  8. Bamford OS, Carroll JL (1999) Dynamic ventilatory responses in rats: normal development and effects of prenatal nicotine exposure. Respir Physiol 117: 29-40

    Article  PubMed  CAS  Google Scholar 

  9. Blumberg MS, Sokoloff G (1998) Thermoregulatory competence and behavioral expression in the young of altricial species–revisited. Dev Psychobiol 33: 107123

    Article  Google Scholar 

  10. Bouslama M, Chauviere L, Fontaine RH, Matrot B, Gressens P, Gallego J (2006) Treatment-induced prevention of learning deficits in newborn mice with brain lesions. Neuroscience 141: 795-801

    Article  PubMed  CAS  Google Scholar 

  11. 11. Bouslama M, Durand E, Van den Bergh O, Gallego J (2005) Olfactory classical conditioning in newborn mice. Behav Brain Res 161: 102-106

    Article  PubMed  Google Scholar 

  12. Brown LY, Brown SA (2004) Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet 20: 51-58

    Article  PubMed  CAS  Google Scholar 

  13. Burton MD, Kawashima A, Brayer JA, Kazemi H, Shannon DC, Schuchardt A, Costantini F, Pachnis V, Kinane TB (1997) RET proto-oncogene is important for the development of respiratory CO2 sensitivity. J Auton Nerv Syst 63: 37-143

    Article  Google Scholar 

  14. Cross SH, Morgan JE, Pattyn A, West K, McKie L, Hart A, Thaung C, Brunet JF, Jackson IJ (2004) Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. Hum Mol Genet 13: 1433-1439

    Article  PubMed  CAS  Google Scholar 

  15. Dauger S, Aizenfisz S, Renolleau S, Durand E, Vardon G, Gaultier C, Gallego J (2001) Arousal response to hypoxia in newborn mice. Respir Physiol 128: 235240

    Article  Google Scholar 

  16. 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 brain stem control of respiratory frequency in newborn mice. Physiol Genomics 7: 149-157

    PubMed  CAS  Google Scholar 

  17. Dauger S, Nsegbe E, Vardon G, Gaultier C, Gallego J (1998) The effects of restraint on ventilatory responses to hypercapnia and hypoxia in adult mice. Respir Physiol 112: 215-225

    Article  PubMed  CAS  Google Scholar 

  18. 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

    Article  PubMed  CAS  Google Scholar 

  19. 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

    Article  PubMed  CAS  Google Scholar 

  20. 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

    Article  PubMed  Google Scholar 

  21. 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

    Article  PubMed  Google Scholar 

  22. Durand E, Lofaso F, Dauger S, Vardon G, Gaultier C, Gallego J (2004) Intermittent hypoxia induces transient arousal delay in newborn mice. J Appl Physiol 96: 1216-1222

    Article  PubMed  CAS  Google Scholar 

  23. Gaultier C, Amiel J, Dauger S, Trang H, Lyonnet S, Gallego J, Simonneau M (2004) Genetics and early disturbances of breathing control. Pediatr Res 55: 729733

    Article  Google Scholar 

  24. 24. Gaultier C, Dauger S, Simonneau M, Gallego J (2003) Genes modulating chemical breathing control: lessons from mutant animals. Respir Physiol Neurobiol 136: 105-114

    Article  PubMed  Google Scholar 

  25. Gaultier C, Trang H, Praud JP, Gallego J (1997) Cardiorespiratory control during sleep in the Congenital Central Hypoventilation Syndrome. Pediatr Pulmonol 23: 140-142

    Article  Google Scholar 

  26. Gozal D, Marcus CL, Shoseyov D, Keens TG (1993) Peripheral chemoreceptor function in children with the congenital central hypoventilation syndrome. J Appl Physiol 74: 379-387

    PubMed  CAS  Google Scholar 

  27. Guilleminault C, McQuitty J, Ariagno RL, Challamel MJ, Korobkin R, McClead RE, Jr.(1982) Congenital central alveolar hypoventilation syndrome in six infants. Pediatrics 70: 684-694

    PubMed  CAS  Google Scholar 

  28. Karlsson KA, Blumberg MS (2002) The union of the state: myoclonic twitching is coupled with nuchal muscle atonia in infant rats. Behav Neurosci 116: 912-917

    Article  PubMed  Google Scholar 

  29. Karlsson KA, Kreider JC, Blumberg MS (2004) Hypothalamic contribution to sleep-wake cycle development. Neuroscience 123: 575-582

    Article  PubMed  CAS  Google Scholar 

  30. Kline DD, Yang T, Huang PL, Prabhakar NR (1998) Altered respiratory responses to hypoxia in mutant mice deficient in neuronal nitric oxide synthase. J Physiol 511: 273-287

    Article  PubMed  CAS  Google Scholar 

  31. 31. Kumar R, Macey PM, Woo MA, Alger JR, Keens TG, Harper RM (2005) Neuroanatomic deficits in congenital central hypoventilation syndrome. J Comp Neurol 487: 361-371

    Article  PubMed  Google Scholar 

  32. Kuwaki T, Cao WH, Kurihara Y, Kurihara H, Ling GY, Onodera M, Ju KH, Yazaki Y, Kumada M (1996) Impaired ventilatory responses to hypoxia and hypercapnia in mutant mice deficient in endothelin-1. Am J Physiol 270: R1279-1286

    PubMed  CAS  Google Scholar 

  33. Marcus CL, Livingston FR, Wood SE, Keens TG (1991) Hypercapnic and hypoxic ventilatory responses in parents and siblings of children with congenital central hypoventilation syndrome. Am Rev Respir Dis 144: 136-140

    PubMed  CAS  Google Scholar 

  34. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi G, Cilio M, Hennekam R, Hofstra R, Schöber J, Ravazzolo R, Ottonello G, Ceccherini I (2004) PHOX2B mutations and polyalanine expansions corellate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. J Med Genet 41: 373-380

    Article  PubMed  CAS  Google Scholar 

  35. Matrot B, Durand E, Dauger S, Vardon G, Gaultier C, Gallego J (2005) Automatic classification of activity and apneas using whole body plethysmography in newborn mice. J Appl Physiol 98: 365-370

    Article  PubMed  CAS  Google Scholar 

  36. Milerad J, Larsson H, Lin J, Sundell HW (1995) Nicotine attenuates the ventilatory response to hypoxia in the developing lamb. Pediatr Res 37: 652-660

    Article  PubMed  CAS  Google Scholar 

  37. Mortola JP, Tenney SM (1986) Effects of hyperoxia on ventilatory and metabolic rates of newborn mice. Respir Physiol 63: 267-274

    Article  PubMed  CAS  Google Scholar 

  38. Nattie EE (2001) Central chemosensitivity, sleep, and wakefulness. Respir Physiol 129: 257-268

    Article  PubMed  CAS  Google Scholar 

  39. Nattie EE, Li A (2001) CO2 dialysis in the medullary raphe of the rat increases ventilation in sleep. J Appl Physiol 90: 1247-1257

    PubMed  CAS  Google Scholar 

  40. Nattie EE, Li A (2002) CO2 dialysis in nucleus tractus solitarius region of rat increases ventilation in sleep and wakefulness. J Appl Physiol 92: 2119-2130

    PubMed  Google Scholar 

  41. Onodera M, Kuwaki T, Kumada M, Masuda Y (1997) Determination of ventilatory volume in mice by whole body plethysmography. Jpn J Physiol 47: 317-326

    Article  PubMed  CAS  Google Scholar 

  42. Paton JY, Swaminathan S, Sargent CW, Keens TG (1989) Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome. Am Rev Respir Dis 140: 368-372

    PubMed  CAS  Google Scholar 

  43. Pattyn A, Hirsch M, Goridis C, Brunet JF (2000) Control of hindbrain motor neuron differentiation by the homeobox gene Phox2b. Development 127: 1349-1358

    PubMed  CAS  Google Scholar 

  44. 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 

  45. 45. 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 Regul Integr Comp Physiol 290: R1691-1696

    PubMed  Google Scholar 

  46. Renolleau S, Dauger S, Autret F, Vardon G, Gaultier C, Gallego J (2001) Maturation of baseline breathing and of hypercapnic and hypoxic ventilatory responses in newborn mice. Am J Physiol Regul Integr Comp Physiol 281: R1746-1753

    PubMed  CAS  Google Scholar 

  47. Rigatto H, Brady JP (1972) Periodic breathing and apnea in preterm infants. I. Evidence for hypoventilation possibly due to central respiratory depression. Pediatrics 50: 202-218

    CAS  Google Scholar 

  48. Rigatto H, Brady JP (1972) Periodic breathing and apnea in preterm infants. II. Hypoxia as a primary event. Pediatrics 50: 219-228

    CAS  Google Scholar 

  49. Ruggiero DA, Gootman PM, Ingenito S, Wong C, Gootman N, Sica AL (1999) The area postrema of newborn swine is activated by hypercapnia: relevance to sudden infant death syndrome? J Auton Nerv Syst 76: 167-175

    Article  PubMed  CAS  Google Scholar 

  50. 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

    Article  PubMed  CAS  Google Scholar 

  51. 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

    Article  PubMed  CAS  Google Scholar 

  52. Spengler CM, Gozal D, Shea SA (2001) Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome. Respir Physiol 129:247-255

    Article  PubMed  CAS  Google Scholar 

  53. 53. Stornetta RL, Moreira TS, Takakura AC, Kang BJ, Chang DA, West GH, Brunet JF, Mulkey DK, Bayliss DA, Guyenet PG (2006) Expression of Phox2b by brain-stem neurons involved in chemosensory integration in the adult rat. J Neurosci 26: 10305-10314

    Article  Google Scholar 

  54. Trochet D, Jong Hong S, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J (2005) Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet 14: 3697-3708

    Article  PubMed  CAS  Google Scholar 

  55. Ungar A, Bouverot P (1980) The ventilatory responses of conscious dogs to isocapnic oxygen tests. A method of exploring the central component of respiratory drive and its dependence on O2 and CO2. Respir Physiol 39: 183-197

    Article  PubMed  CAS  Google Scholar 

  56. Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D (2004) Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol 37: 217-229

    Article  PubMed  Google Scholar 

  57. Weese-Mayer D, Berry-Kravis E (2004) Genetics of congenital central hypoventilation syndrome. Am J Respir Crit Care Med 170: 16-21

    Article  PubMed  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  59. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML (2003) Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet 123: 267-278

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Gallego, J., Ramanantsoa, N., Vaubourg, V. (2008). Tentative mouse model for the congenital central hypoventilation syndrome: heterozygous phox2b mutant newborn mice. In: Genetic Basis for Respiratory Control Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70765-5_14

Download citation

Publish with us

Policies and ethics