Genes modulating chemical breathing control: Lessons from mutant animals

Respiratory Physiology and Neurobiology

Volumn 136, Issue 2-3, 2003, Pages 105-114

  Gaultier, Claude ^a   Dauger, Stéphane ^a   Simonneau, Michel ^a   Gallego, Jorge ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Chemosensitivity, lack of; Control of breathing, genetic factors; Disease, congenital central hypoventilation syndrome; Mammals, mouse, newborn; Mediators, endothelin; Sleep, chemosensitivity, congenital central hypoventilation syndrome

Indexed keywords

AROUSAL; BREATHING PATTERN; CHEMOSENSITIVITY; CONFERENCE PAPER; DYSAUTONOMIA; GENE MUTATION; HEALTH SURVEY; HUMAN VERSUS ANIMAL COMPARISON; LUNG ALVEOLUS HYPOVENTILATION; MEASUREMENT; MOLECULAR MECHANICS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RESPIRATION CONTROL; RESPIRATORY FUNCTION; SLEEP APNEA SYNDROME;

EID: 0037678453     PISSN: 15699048     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1569-9048(03)00075-2     Document Type: Conference Paper

References (61)

1. Aisenfisz S., Dauger S., Durand E., Vardon G., Levacher B., Simonneau M., Gaultier C., Gallego J. Ventilatory responses to hypercapnia and hypoxia in heterozygous c-ret±newborn mice. Respir. Physiol. 131:2002;213-222.
2. Amiel J., Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J. Med. Genet. 38:2001;729-739.
3. Amiel J., Salomon R., Attié T., Pelet A., Trang H., Mokhtari M., Gaultier C., Munnich A., Lyonnet S. Mutations of the RET-GDNF signaling pathway in Ondine's curse. Am. J. Hum. Genet. 62:1998;715-717.
4. Amiel J., Pelet A., Trang H., Simonneau M., de Pontual L., Munnich A., Gaultier C., Lyonnet S. Exclusion of Rnx as a major gene in congenital central hypoventilation syndrome (CCHS, Ondines curse). Am. J. Med. Genet. 117:2003;18-20.
5. Amiel J., Landier b., Attie-Bitach T., Trang H., de Pontual L., Gener B. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene Phox2b in congenital central hypoventilation syndrome. Nat. Genet. 33:2003;459-461.
6. Balkowiec A., Katz D.M. Brain-derived neurotrophic factor is required for normal development of the central respiratory rhythm in mice. J. Physiol. Lond. 510:1998;527-533.
7. Bolk S., Angrist M., Xie J., Yanagisawa M., Silvestri J.M., Weeze-Mayer D.E., Chakravarti A. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. Nat. Genet. 13:1996;395-396.
8. Brady R., Zaidi S.I., Mayer C., Katz D.M. BDNF is a target-derived survival factor for arterial baroreceptor and chemoafferent primary sensory neurons. J. Neurosci. 19:1999;2131-2142.
9. 2 sensitivity. J. Auton. Nerv. Syst. 63:1997;137-143.
10. Carrasquillo M.M., McCallion A.S., Puffenberger E.G., Kashuk C.S., Nouri N., Chakravarti A. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat. Genet. 32:2002;237-244.
11. Clouthier D.E., Hosoda K., Richardson J.A., Williams S.C., Yanagisawa H., Kuwaki T., Kumada M., Hammer R.E., Yanagisawa M. Cranial and cardiac neural crest defects in endothelin-a receptor-deficient mice. Development. 125:1998;813-824.
12. Dauger S., Nsegbe E., Vardon G., Gaultier C., Gallego J. The effects of restraint on ventilatory responses to hypercapnia and hypoxia in adult mice. Respir. Physiol. 112:1998;215-225.
13. Dauger S., Renolleau S., Nepote V., Mas C., Simonneau M., Gaultier C., Gallego J. Ventilatory responses to hypercapnia and to hypoxia in Mash-1 heterozygous newborn and adult mice. Pediatr. Res. 46:1999;535-542.
14. Dauger S., Aizenfisz S., Renolleau S., Durand E., Vardon G., Gaultier C., Gallego J. Arousal response to hypoxia in newborn mice. Respir. Physiol. 128:2001;235-240.
15. Dauger S., Guimiot F., Renolleau S., Levacher B., Boda B., Mas C., Nepote V., Simonneau M., Gaultier C., Gallego J. Mash-1/Ret pathway involvement in development of brain stem control of respiratory frequency in newborn mice. Physiol. Genomics. 7:2001;149-157.
16. de Pontual L., Attie-Bitach T., Trang H., Pajot C., Simonneau M., Vekemanis M., Munnich A., Lyonnet S., Gaultier C., Amiel J. Polyamine tract contraction and missense mutation of the h-ASH1 gene in congenital central hypoventilation syndrome (Ondines's curse). Am. J. Hum. Genet. 69:2001;A11-177.
17. DeRisi J., Penland L., Brown P.O., Bittner M.L., Meltzer P.S., Ray M., Chen Y., Su Y.A., Trent J.M. Use of a cDNA microarray to analyse gene expression patterns in human cancer. Nat. Genet. 14:1996;457-460.
18. Devriendt K., Fryns J.P., Naulaers G., Devlieger H., Alliet P. Neuroblastoma in a mother and congenital central hypoventilation in her daughter: variable expression of the same genetic disorder. Am. J. Med. Genet. 90:2000;430-431.
19. Del Negro C.A., Morgado-Valle C., Feldman J.L. Respiratory rhythm: an emergent property? Neuron. 34:2002;821-830.
20. Erickson J.T., Conover J.C., Borday V., Champagnat J., Barbacid M., Yancopoulos G., Katz D.M. Mice lacking brain-derived neurotrophic factor exhibit visceral sensory neuron losses distinct from mice lacking NT4 and display a severe developmental deficit in control of breathing. J. Neurosci. 16:1996;5361-5371.
21. Erickson J.T., Brosenitsch T.A., Katz D.M. Brain-derived neurotrophic factor and glial cell line-derived neurotrophic factor are required simultaneously for survival of dopaminergic primary sensory neurons in vivo. J. Neurosci. 15:2001;581-589.
22. Fleetham J.A., Arnup M.E., Anthonisen N.R. Familial aspects of ventilatory control in patients with chronic obstructive pulmonary disease. Am. Rev. Respir. Dis. 129:1984;3-7.
23. Gaultier C.L., Trang H., Praud J.P., Gallego J. Cardiorespiratory control during sleep in the congenital central hypoventilation syndrome. Pediatr. Pulmonol. 23:1997;140-142.
24. Gaultier C., Simonneau M., Dauger S., Gallego J. Génétique et contrôle respiratoire: études chez l'homme normal et pathologique et chez l'animal. Rev. Mal. Respir. 20:2003;1-18.
25. Gozal D. Congenital central hypoventilation syndrome: an update. Pediatr. Pulmonol. 26:1998;273-282.
26. Guo S., Brush J., Teraoka H., Goddard A., Wilson S.W., Mullins M.C., Rosenthal A. Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron. 24:1999;555-566.
27. Harper R.M., Woo M.A., Alger J.R. Visualization of sleep influences on cerebellar and brainstem cardiac and respiratory control mechanisms. Brain Res. Bull. 53:2000;125-131.
28. Kanai M., Numakura C., Sasaki A., Shirahata E., Akaba K., Hashimoto M., Hasegawa H., Shirasawa S., Hayasaka K. Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. Tohoku J. Exp. Med. 196:2002;241-246.
29. Kozian D.H., Kirschbaum B.J. Comparative gene-expression analysis. Trends Biotechnol. 17:1999;73-78.
30. Kuwaki T., Cao W.H., Kurihara Y., Kurihara H., Ling G.Y., Onodera M., Ju K.H., Yazaki Y., Kumada M. Impaired ventilatory responses to hypoxia and hypercapnia in mutant mice deficient in endothelin-1. Am. J. Physiol. 270:1996;R1279-R1286.
31. Kuwaki T., Ling G.Y., Onodera M., Ishii T., Nakamura A., Ju K.H., Cao W.H., Kumada M., Kurihara H., Kurihara Y., Yazaki Y., Ohuchi T., Yanagisawa M., Fukuda Y. Endothelin in the central control of cardiovascular and respiratory functions. Clin. Exp. Pharmacol. Physiol. 26:1999;989-994.
32. Liang P., Pardee A.B. Differential display. A general protocol. Methods Mol. Biol. 85:1997;3-11.
33. Marazita M.L., Maher B.S., Cooper M.E., Silvestri J.M., Huffman A.D., Smok-Pearsall S.M., Kowal M.H., Weese-Meayer D.E. Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. Am. J. Hum. Med. Genet. 100:2001;229-236.
34. Marcus C.L., Livingston F.R., Wood S.E., Keens T.G. Hypercapnic and hypoxic ventilatory responses in parents and siblings of children with congenital central hypoventilation syndrome. Am. Rev. Respir. Dis. 144:1991;114-136.
35. Mirnics K., Middleton F.A., Marquez A., Lewis D.A., Levitt P. Molecular characterization of schizophrenia viewed by microarray analysis of gene expression in prefrontal cortex. Neuron. 28:2000;53-67.
36. Mirnics K., Middleton F.A., Lewis D.A., Levitt P. Analysis of complex brain disorders with gene expression microarrays: schizophrenia as a disease of the synapse. Trends Neurosci. 24:2001;479-486.
37. Nadeau J.H. Modifier genes in mice and humans. Nat. Rev. 2:2001;165-174.
38. Nakamura A., Kuwaki T., Kuriyama T., Yanagisawa M., Fukuda Y. Normal ventilation and ventilatory responses to chemical stimuli in juvenile mutant mice deficient in endothelin-3. Respir. Physiol. 124:2001;1-9.
39. North American CCHS Family Network, 1998. CCHS Network Newsletter 9, 3-6.
40. Onodera M., Kuwaki T., Kumada M., Masuda Y. Determination of ventilatory volume in mice by whole body plethysmography. Jpn. J. Physiol. 47:1997;317-326.
41. Qian Y., Fritzch R., Shirasawa S., Chen C.L., Choi Y., Ma Q. Formation of brainstem (nor) adrenergic centers and first-order relay visceral sensory neurons is dependent on homeodomain protein Rnx/Tlx 3. Gen. Dev. 15:2001;2533-2545.
42. Redline S., Leitner J., Arnold J., Tishler P.V., Altose M.D. Ventilatory-control abnormalities in familial sleep apnea. Am. J. Respir. Crit. Care Med. 156:1997;155-160.
43. Renolleau S., Dauger S., Autret F., Vardon G., Gaultier C., Gallego J. Maturation of baseline breathing and of hypercapnic and hypoxic ventilatory responses in newborn mice. Am. J. Physiol. Regul. Integr. Comp. Physiol. 281:2001;R1746-R1753.
44. Renolleau S., Dauger S., Vardon G., Levacher B., Simonneau M., Yanagisawa M., Gaultier C., Gallego J. Impaired ventilatory responses to hypoxia in mice deficient in endothelin-converting-enzyme-1. Pediatr. Res. 49:2001;705-712.
45. Robinson D.M., Kwork H., Adams B.M., Peebles K.C., Funk G.D. Development of the ventilatory response to hypoxia in Swiss CD-1 mice. J. Appl. Physiol. 88:2000;1907-1914.
46. Sakai T., Wakisaka A., Matsuda H., Nirasawa Y., Itoh Y. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics. 101:1998;924-926.
47. Schena M., Shalon D., Davis R.W., Brown P.O. Quantitative monitoring of gene expression patterns with a complementary DNA microarray. Science. 270:1995;467-470.
48. Schena M., Shalon D., Heller R., Chai A., Brown P.O., Davis R.W. Parallel human genome analysis: microarray-based expression monitoring of 1000 genes. Proc. Natl. Acad. Sci. 93:1996;10614-10619.
49. Shirasawa S., Arata A., Onimaru H., Roth K.A., Brown G.A., Horning S., Arata S., Okumura K., Sasazuki T., Korsmeyer S.J. Rnx deficiency results in congenital central hypoventilation. Nat. Genet. 24:2000;287-290.
50. Silvestri J.M., Chen M.L., Weese-Mayer D.E., McQuitty J.M., Carveth H.J., Nielson D.W., Borowitz D., Cerny F. Idiopathic congenital hypoventilation syndrome: the next generation. Am. J. Med. Genet. 112:2002;46-50.
51. Sritippayawan S., Hamutcu R., Kun S.S., Ner Z., Ponce M., Keens T.G. Mother-daughter transmission of congenital central hypoventilation syndrome. Am. J. Respir. Crit. Care Med. 166:2002;367-369.
52. Svensson, P.J., 1999. Molecular studies on Hirschsprung disease and 'Ondine's curse'. Thesis, Karolinska Institute, Stockholm, Sweden.
53. Tankersley C.G., Fitzgerald R.S., Kleeberger S.R. Differential control of ventilation among inbred strains of mice. Am. J. Physiol. Regul. Integr. Comp. Physiol. 267:1994;R1371-R1377.
54. Tankersley C.G., Elston R.C., Schnell A.H. Genetic determinants of acute hypoxic ventilation: patterns of inheritance in mice. J. Appl. Physiol. 88:2000;2310-2318.
55. Vanderlaan, M., Holbrook, C., Wang, M., Tuell, A., Gozal, D., 2002. Caring of children with congenital central hypoventilation syndrome: a multi-nation family survey of medical conditions and homecare of CCHS children. Proceedings of the Second International Symposium on CCHS, 15-16 February, Paris, France.
56. Velculescu V.E., Zhang L., Vogelstein B., Kinzler K.W. Serial analysis of gene expression. Science. 270:1995;484-487.
57. Weese-Mayer D.E., Shannon D.C., Keens T.G., Silvestri J.M. American Thoracic Society Statement on the diagnosis and management of idiopathic congenital central hypoventilation syndrome. Am. J. Crit. Care Med. 160:1999;368-373.
58. Weese-Mayer D.E., Silvestri J.M., Huffman A.D., Smok-Pearsall S., Kowal M.H., Maher B.S., Cooper M.E., Marazita M.L. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am. J. Med. Genet. 100:2001;237-249.
59. Weese-Mayer D.E., Bolk S., Silvestri J.M., Chakravarti A. Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic/DNA sequence variation. Am. J. Med. Genet. 107:2002;306-310.
60. Yanagisawa H., Yanagisawa M., Kapur R.P., Richardson J.A., Williams S.C., Clouthier D.E., De Wit D., Emoto N., Hammer R.E. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development. 125:1998;825-836.
61. Yaspo M.L. Taking a functional genomics approach in molecular medicine. Trends Mol. Med. 7:2001;494-501.