PHOX2B in respiratory control: Lessons from congenital central hypoventilation syndrome and its mouse models

Respiratory Physiology & Neurobiology - Tập 168 - Trang 125-132 - 2009
Jeanne Amiel1,2, Véronique Dubreuil3,4, Nélina Ramanantsoa5, Gilles Fortin6, Jorge Gallego5,7, Jean-François Brunet3,4, Christo Goridis3,4
1INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris, France
2Département de Génétique, Université Paris Descartes, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris, France
3Ecole normale supérieure, Département de Biologie, 75005 Paris, France
4CNRS, UMR8542, 75005 Paris, France
5INSERM, U676, Hôpital Robert Debré, 48 Bd Sérurier, 75019 Paris, France
6Neurobiologie Génétique et Intégrative, Institut Alfred Fessard, CNRS, 91190, Gif sur Yvette, France
7Université Denis Diderot, Paris, France

Tài liệu tham khảo

Amiel, 2003, Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome, Nat. Genet., 33, 459, 10.1038/ng1130 Amiel, 2004, Polyalanine expansions in human, Hum. Mol. Genet., 13, R235, 10.1093/hmg/ddh251 Arrasate, 2004, Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death, Nature, 431, 805, 10.1038/nature02998 Bachetti, 2007, Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions, Int. J. Biochem. Cell Biol., 39, 327, 10.1016/j.biocel.2006.08.014 Benailly, 2003, PMX2B, a new candidate gene for Hirschsprung's disease, Clin. Genet., 64, 204, 10.1034/j.1399-0004.2003.00105.x Blessing, 1997 Brunet, 2008, Phox2b and the homeostatic brain, 25 Brunet, 2002, Phox2 genes—from patterning to connectivity, Curr. Opin. Genet. Dev., 12, 435, 10.1016/S0959-437X(02)00322-2 Dauger, 2003, Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways, Development, 130, 6635, 10.1242/dev.00866 de Pontual, 2007, Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease, Hum. Mutat., 28, 790, 10.1002/humu.20517 Drorbaugh, 1955, A barometric method for measuring ventilation in newborn infants, Pediatrics, 16, 81, 10.1542/peds.16.1.81 Dubreuil, 2002, The role of Phox2b in synchronizing pan-neuronal and type-specific aspects of neurogenesis, Development, 129, 5241, 10.1242/dev.129.22.5241 Dubreuil, 2008, A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons, Proc. Natl. Acad. Sci. U.S.A., 105, 1067, 10.1073/pnas.0709115105 Dufour, 2006, Precraniate origin of cranial motoneurons, Proc. Natl. Acad. Sci. U.S.A., 103, 8727, 10.1073/pnas.0600805103 Durand, 2005, Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b, Am. J. Respir. Crit. Care Med., 172, 238, 10.1164/rccm.200411-1528OC Epstein, 1978, A theoretical analysis of the barometric method for measurement of tidal volume, Respir. Physiol., 32, 105, 10.1016/0034-5687(78)90103-2 Ericson, 1997, Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling, Cell, 90, 169, 10.1016/S0092-8674(00)80323-2 Feldman, 2006, Looking for inspiration: new perspectives on respiratory rhythm, Nat. Rev. Neurosci., 7, 232, 10.1038/nrn1871 Feldman, 2003, Breathing: rhythmicity, plasticity, chemosensitivity, Annu. Rev. Neurosci., 26, 239, 10.1146/annurev.neuro.26.041002.131103 Gaultier, 2006, Transgenic models to study disorders of respiratory control in newborn mice, ILAR. J., 47, 15, 10.1093/ilar.47.1.15 Gonzalez, 1994, Carotid body chemoreceptors: from natural stimuli to sensory discharges, Physiol. Rev., 74, 829, 10.1152/physrev.1994.74.4.829 Guyenet, 2008, Retrotrapezoid nucleus and central chemoreception, J. Physiol., 586, 2043, 10.1113/jphysiol.2008.150870 Hilaire, 2004, Modulation of the respiratory rhythm generator by the pontine noradrenergic A5 and A6 groups in rodents, Respir. Physiol. Neurobiol., 143, 187, 10.1016/j.resp.2004.04.016 Hodges, 2008, Contributions of 5-HT neurons to respiratory control: neuromodulatory and trophic effects, Respir. Physiol. Neurobiol., 10.1016/j.resp.2008.05.014 Hung, 2007, Unequal crossover recombination—population screening for PHOX2B gene polyalanine polymorphism using CE, Electrophoresis, 28, 894, 10.1002/elps.200600383 Jacquin, 1996, Reorganization of pontine rhythmogenic neuronal networks in Krox-20 knockout mice, Neuron, 17, 747, 10.1016/S0896-6273(00)80206-8 Janvier, 2004, Apnea is associated with neurodevelopmental impairment in very low birth weight infants, J. Perinatol., 24, 763, 10.1038/sj.jp.7211182 Karlsson, 2002, The union of the state: myoclonic twitching is coupled with nuchal muscle atonia in infant rats, Behav. Neurosci., 116, 912, 10.1037/0735-7044.116.5.912 Karlsson, 2004, Hypothalamic contribution to sleep–wake cycle development, Neuroscience, 123, 575, 10.1016/j.neuroscience.2003.09.025 Katz, 2000, Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome, Pediatr. Pulmonol., 29, 62, 10.1002/(SICI)1099-0496(200001)29:1<62::AID-PPUL10>3.0.CO;2-M Kline, 1998, Altered respiratory responses to hypoxia in mutant mice deficient in neuronal nitric oxide synthase, J. Physiol., 511, 273, 10.1111/j.1469-7793.1998.273bi.x Lavoie, 2003, Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains, Hum. Mol. Genet., 12, 2967, 10.1093/hmg/ddg329 Matera, 2004, PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome, J. Med. Genet., 41, 373, 10.1136/jmg.2003.015412 Mellen, 2003, Opioid-induced quantal slowing reveals dual networks for respiratory rhythm generation, Neuron, 37, 821, 10.1016/S0896-6273(03)00092-8 Mellins, 1970, Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature, Medicine (Baltimore), 49, 487, 10.1097/00005792-197011000-00003 Mortola, 1986, Effects of hyperoxia on ventilatory and metabolic rates of newborn mice, Respir. Physiol., 63, 267, 10.1016/0034-5687(86)90094-0 Muchowski, 2005, Modulation of neurodegeneration by molecular chaperones, Nat. Rev. Neurosci., 6, 11, 10.1038/nrn1587 Mulkey, 2004, Respiratory control by ventral surface chemoreceptor neurons in rats, Nat. Neurosci., 7, 1360, 10.1038/nn1357 Nattie, 2001, CO2 dialysis in the medullary raphe of the rat increases ventilation in sleep, J. Appl. Physiol., 90, 1247, 10.1152/jappl.2001.90.4.1247 Nattie, 2002, CO2 dialysis in nucleus tractus solitarius region of rat increases ventilation in sleep and wakefulness, J. Appl. Physiol., 92, 2119, 10.1152/japplphysiol.01128.2001 Onimaru, 2003, A novel functional neuron group for respiratory rhythm generation in the ventral medulla, J. Neurosci., 23, 1478, 10.1523/JNEUROSCI.23-04-01478.2003 Onimaru, 2008, CO2-sensitive preinspiratory neurons of the parafacial respiratory group express Phox2b in the neonatal rat, J. Neurosci., 28, 12845, 10.1523/JNEUROSCI.3625-08.2008 Onodera, 1997, Determination of ventilatory volume in mice by whole body plethysmography, Jpn. J. Physiol., 47, 317, 10.2170/jjphysiol.47.317 Pagliardini, 2008, Central respiratory rhythmogenesis is abnormal in lbx1-deficient mice, J. Neurosci., 28, 11030, 10.1523/JNEUROSCI.1648-08.2008 Pattyn, 2000, Specification of the central noradrenergic phenotype by the homeobox gene Phox2b, Mol. Cell. Neurosci., 15, 235, 10.1006/mcne.1999.0826 Pattyn, 2000, Control of hindbrain motor neuron differentiation by the homeobox gene Phox2b, Development, 127, 1349, 10.1242/dev.127.7.1349 Pattyn, 1997, Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis, Development, 124, 4065, 10.1242/dev.124.20.4065 Pattyn, 1999, The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives, Nature, 399, 366, 10.1038/20700 Pattyn, 2003, Coordinated temporal and spatial control of motor neuron and serotonergic neuron generation from a common pool of CNS progenitors, Genes Dev., 17, 729, 10.1101/gad.255803 Raabe, 2008, Prevalence and functional consequence of PHOX2B mutations in neuroblastoma, Oncogene, 27, 469, 10.1038/sj.onc.1210659 Ramanantsoa, 2006, Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2b, Am. J. Physiol. Regul. Integr. Comp. Physiol., 290, R1691, 10.1152/ajpregu.00875.2005 Ramanantsoa, 2007, Effects of temperature on ventilatory response to hypercapnia in newborn mice heterozygous for transcription factor Phox2b, Am. J. Physiol. Regul. Integr. Comp. Physiol., 293, R2027, 10.1152/ajpregu.00349.2007 Repetto, 2008, Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene, Acta Paediatr. Richerson, 2005, Homing in on the specific phenotype(s) of central respiratory chemoreceptors, Exp. Physiol., 90, 259, 10.1113/expphysiol.2005.029843 Ruggiero, 1999, The area postrema of newborn swine is activated by hypercapnia: relevance to sudden infant death syndrome?, J. Auton. Nerv. Syst., 76, 167, 10.1016/S0165-1838(99)00017-X Silvestri, 2002, Idiopathic congenital central hypoventilation syndrome: the next generation, Am. J. Med. Genet., 112, 46, 10.1002/ajmg.10819 Smith, 1989, Brainstem projections to the major respiratory neuron populations in the medulla of the cat, J. Comp. Neurol., 281, 69, 10.1002/cne.902810107 Stornetta, 2006, Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat, J. Neurosci., 26, 10305, 10.1523/JNEUROSCI.2917-06.2006 Sundin, 2002, Branchial innervation, J. Exp. Zool., 293, 232, 10.1002/jez.10130 Takakura, 2006, Peripheral chemoreceptor inputs to retrotrapezoid nucleus (RTN) CO2-sensitive neurons in rats, J. Physiol., 572, 503, 10.1113/jphysiol.2005.103788 Takeda, 2001, Opioid action on respiratory neuron activity of the isolated respiratory network in newborn rats, Anesthesiology, 95, 740, 10.1097/00000542-200109000-00029 Trang, 2005, The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype, Chest, 127, 72, 10.1378/chest.127.1.72 Trochet, 2008, Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse), Hum. Mutat., 29, 770, 10.1002/humu.20727 Trochet, 2007, Polyalanine expansions might not result from unequal crossing-over, Hum. Mutat., 28, 1043, 10.1002/humu.20562 Trochet, 2008, PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome, Am. J. Respir. Crit. Care Med., 177, 906, 10.1164/rccm.200707-1079OC Trochet, 2005, Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction, Hum. Mol. Genet., 14, 3697, 10.1093/hmg/ddi401 Trochet, 2009, In vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation, Hum. Mutat., 30, E421, 10.1002/humu.20923 Trochet, 2005, PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome, Am. J. Hum. Genet., 76, 421, 10.1086/428366 Ungar, 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, 10.1016/0034-5687(80)90044-4 Warren, 1997, Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13, Science, 275, 408, 10.1126/science.275.5298.408 Weese-Mayer, 2005, In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome, Respir. Physiol. Neurobiol., 149, 73, 10.1016/j.resp.2005.06.010 Weese-Mayer, 1999, Idiopathic congenital central hypoventilation syndrome: diagosis and management, Am. J. Respir. Crit. Care Med., 160, 368, 10.1164/ajrccm.160.1.16010 Weese-Mayer, 1993, Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome, Am. J. Med. Genet., 47, 360, 10.1002/ajmg.1320470313 Wu, 2009, Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants, Hum. Mutat., 30, 655, 10.1002/humu.20929 Yokoyama, 1999, Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation, Genomics, 59, 40, 10.1006/geno.1999.5845